Professor Andrew Hattersley FRCP FMedSci FRS
Gillings Chair of Precision Medicine, Professor of Molecular Medicine & Consultant Physician
A.T.Hattersley@exeter.ac.uk
+44 (0) 1392 408260
RILD Building 3.10
University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK
Overview
Prof Andrew Hattersley FRS is an outstanding clinical scientist, who is distinguished for his contributions to the understanding of the genetics of diabetes and the application of that knowledge to clinical practice. He became Gillings Chair in Precision Medicine in 2015 and leads the Precision medicine initiative in Exeter working with both scientific and clinical colleagues.
He and Prof Sian Ellard set up and currently head the premier international research team working on monogenic diabetes and has played a major role in the UK research effort into the genetics of type 2 diabetes. He continues to work as a consultant physician in diabetes while at the same time leading a large research team. His research combines state-of-the-art molecular genetics with physiological and clinical investigations in patients. He uses the accidents of nature that cause monogenic diabetes to understand the critical role of the gene product in man, in a similar fashion to many laboratory scientists who study knockout animals. A key theme of his approach is that his scientific discoveries are rapidly and effectively translated into improvements in clinical care.
Qualifications
1998 - Fellow of the Royal College of Physicians, London, UK
1997 - D.M. Oxford University “The genetics of Type 2 diabetes”
1984 - BM BCh Oxford University
1981 - B.A. Cambridge University UK
Links
Research group links
Research
Research interests
Professor Andrew Hattersley is a clinical researcher whose work on diabetes combines state-of-the-art molecular genetics, physiological studies and clinical observations to generate important scientific insights. He is medically trained, still clinically active, and reknowned for his ability to translate his basic science discoveries into advances in patient care.
His medical degree was obtained at Cambridge (pre-clinical) and Oxford (clinical). After general medical training in London, he undertook post-graduate training in diabetes at the Hammersmith hospital and Birmingham. His scientific research career began as an MRC training fellow in Oxford in 1990, working with Professor Turner, Dr Wainscoat and Professor Weatherall on clinical, physiological and molecular biological aspects of maturity-onset diabetes of the young (MODY). This work led to the identification of glucokinase as the first gene to cause diabetes (simultaneously with a French group). It also instilled Hattersley with a life-long interest in monogenic diabetes. He continued this work as a lecturer in Birmingham for 2 years, and then moved to a senior lecturership and consultant physician post at Exeter (1995).
Hattersley rapidly transformed Exeter from a centre without a genetics lab to being the premier international centre for monogenic diabetes. He now leads a 29-person research team that integrates cutting-edge scientific research with an NHS diagnostic laboratory, and routine patient care in diabetes.
His major contribution in the past 10 years has been to define the genetic aetiology of monogenic diabetes and, by studying these patients, to improve our knowledge of the development, function and regulation of the insulin-secreting pancreatic beta-cells. This work, both independently and in collaboration with others, has led to the identification of >10 genes that cause neonatal diabetes. Discovery of the causal role of activating mutations in KATP channel genes in neonatal diabetes (2004) immediately led to the possibility that sulphonylurea drugs, which close the channel, might stimulate insulin secretion in these patients. Hattersley subsequently demonstrated that these drugs produce excellent glycaemic control without hypoglycaemia (2006). This work led to the rewriting of international guidelines for all patients diagnosed with diabetes before 6 months to include immediate genetic diagnosis. Hattersley now offers rapid, free, genetic testing patients with neonatal diabetes. As a result, >1200 patients from over 80 countries have now switched from insulin injections to oral sulphonylurea therapy.
Hattersley has developed and assessed biomarkers and diagnostic approaches for the diagnosis of MODY (2010-2013). His work on the treatment and management of the different subgroups of MODY has transformed international guidelines. Recent work has led to a greater understanding of the role and regulation of transcription factors in beta-cell development and function (2009-2013).
His work has not been confined to monogenic diabetes: from 1995-2008 he co-led the UK research effort to identify genetic polymorphisms that predispose to Type 2 diabetes including FTO the major polymorphism predisposing to obesity. Latterly, this work has provided novel insights into the relationship between birth weight and diabetes in later life (2007-2012). Current studies include the development and implementation of a personalised approach to the treatment of Type 2 diabetes.
Links
Publications
Journal articles
De Franco E, Wakeling M, Frew R, Russ-Silsby J, Peters C, Marks S, Hattersley A, Flanagan S (In Press). A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Clinical Genetics
Wakeling M, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, et al (In Press). A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1. Nature Genetics Abstract.
Hope S, Wienand-Barnett S, Shepherd M, King S, Fox C, Khunti K, Oram R, Knight B, Hattersley A, Jones A, et al (In Press). Assessment of Practical Classification Guidelines for Diabetes in insulin-treated patients. British Journal of General Practice
Demirbilek H, Cayir A, Flanagan S, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, et al (In Press). Clinical characteristics and long-term follow-up of patients with diabetes due to PTF1A enhancer mutations. Journal of Clinical Endocrinology and Metabolism
Rodgers LR, weedon MN, Henley WE, Hattersley AT, Shields BM (In Press). Cohort profile for the MASTERMIND study: Using the Clinical Practice Research Datalink (CPRD) to investigate stratification of response to treatment in patients with Type 2 diabetes. BMJ Open
Beaumont R, Kotecha SJ, Wood AR, Knight BA, Sebert S, McCarthy MI, Hattersley AT, Järvelin M-R, Timpson NJ, Freathy RM, et al (In Press). Common maternal and fetal genetic variants show expected polygenic effects on risk of small- or large-for-gestational-age (SGA or LGA), except in the smallest 3% of babies. PLoS Genetics Abstract.
Cardoso P, McDonald T, Patel K, Hattersley A, Shields B, McKinley T (In Press). Comparison of Bayesian approaches for developing prediction models in rare disease: application to the identification of patients with Maturity-Onset Diabetes of the Young. BMC Medical Research Methodology
Dennis J, Jones A, Shields B, Hattersley A (In Press). Comparison of causal forest and regression-based approaches to evaluate treatment effect heterogeneity: an application for type 2 diabetes precision medicine. BMC Medical Informatics and Decision Making Abstract.
De Franco E, Caswell R, Johnson M, Wakeling M, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Vivanco Jury M, El- Khateeb M, et al (In Press). De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction. Diabetes
Lynam A, McDonald T, Hill A, Dennis J, Oram R, Pearson E, Weedon M, Hattersley A, Owen K, Shields B, et al (In Press). Development and validation of multivariable clinical diagnostic models to identify type 1 diabetes requiring rapid insulin therapy in adults aged 18 to 50. BMJ Open
Shields B, Carlsson A, Patel K, Knupp J, Kaur A, Johnston D, Colclough K, Elding Larsson H, Forsander G, Samuelsson U, et al (In Press). Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosis. Scientific Reports
Dennis J, Shields B, Jones A, Pearson E, Hattersley A, Henley W (In Press). Evaluating associations between the benefits and risks of drug therapy in type 2 diabetes: a joint modelling approach. Clinical Epidemiology
Clissold R, Fulford J, Hudson M, Shields B, McDonald T, Ellard S, Hattersley A, Bingham C (In Press). Exocrine pancreatic dysfunction is common in HNF1B-associated renal disease and can be symptomatic. Clinical Kidney Journal
Green H, Weedon M (In Press). Hyperglycemia is a causal risk factor for upper limb pathologies. International Journal of Epidemiology Abstract.
Shields B, Hattersley A, Farmer A (In Press). Identifying routine clinical predictors of non-adherence to second line therapies in Type 2 diabetes: a retrospective cohort analysis in a large primary care database. Diabetes, Obesity and Metabolism
De Franco E, Wakeling M, Flanagan S, Hattersley A (In Press). Infancy-onset diabetes caused by de-regulated AMPylation of the human endoplasmic reticulum chaperone BiP. EMBO Molecular Medicine
Hattersley AT, Shepherd M, Brook AJ, Chakera AJ (In Press). Management of sulfonylurea treated monogenic diabetes in pregnancy: implications of placental Glibenclamide transfer. Diabetic Medicine
Jones AG, mcdonald TJ, Shields BM, Hill AV, Hyde CJ, Knight BA, Hattersley AT (In Press). Markers of beta cell failure predict poor glycemic response to GLP-1 receptor agonist therapy in type 2 diabetes. Diabetes Care
Hattersley AT, Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Flanagan SE, Ellard S (In Press). Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. Journal of Pediatric Endocrinoyl Metabolism
Caswell R, Snowsill T, Houghton J, Chakera A, Shepherd M, Laver T, Knight BA, Hattersley AT, Ellard S (In Press). Non-invasive fetal genotyping by droplet digital PCR to identify maternally-inherited monogenic diabetes variants. Clinical Chemistry
De Franco E, Owens N, Hattersley A, Flanagan S, Wakeling M, Johnson M, Wright C (In Press). Primate-specific ZNF808 is essential for pancreatic development in humans. Nature Genetics
Johnson MB, De Franco E, Lango-Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Ullah I, et al (In Press). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes
Dennis J, Henley W, Weedon M, Lonergan M, Rodgers L, Jones A, Hamilton W, Sattar N, Janmohamed S, Holman R, et al (In Press). Sex and BMI alter the benefits and risks of sulfonylureas and thiazolidinediones in type 2 diabetes: a framework for evaluating stratification using routine clinical and individual trial data. Diabetes Care
Peters J, Anderson R, Shields B, Hudson M, Shepherd M, McDonald T, Hattersley A, Hyde C (In Press). Strategies to Identify Individuals with Monogenic Diabetes: Results of an Economic Evaluation. BMJ Open
Leete P, Oram R, McDonald T, Ziller C, Hattersley A, Richardson S, Morgan N (In Press). Studies of insulin and proinsulin in pancreas and serum support the existence of aetiopathological endotypes of type 1 diabetes associated with age at diagnosis. Diabetologia
Dennis J, Henley W, McGovern A, Farmer A, Sattar N, Holman R, Pearson E, Hattersley A, Shields B, Jones AG, et al (In Press). Time trends in prescribing of type 2 diabetes drugs, glycemic response and risk factors: a retrospective analysis of primary care data, 2010-2017 Running title: Prescribing and patient outcomes in type 2 diabetes. Diabetes, Obesity and Metabolism
Johnson M, Patel K, De Franco E, McDonald T, Hudson M, Dobbs R, Ellard S, Flanagan S, Hattersley A, Oram R, et al (In Press). Type 1 Diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta-cells. Diabetologia
Weedon M, Jackson L, Harrison J, Ruth K, Tyrrell J, Hattersley A, Wright C (In Press). Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation. BMJ: British Medical Journal
McGovern A, Shields B, Hattersley A, Pearson E, Jones AG (In Press). What to do with diabetes therapies when HbA1c lowering is inadequate: add, switch, or continue? a MASTERMIND study. BMC Medicine
Derakhshan A, Männistö T, Chen L, Osinga JAJ, Ashoor G, Lu X, Bliddal S, Tao F-B, Brown SJ, Vaidya B, et al (2024). Association of Gestational Free and Total Triiodothyronine with Gestational Hypertension, Preeclampsia, Preterm Birth, and Birth Weight: an Individual Participant Data Meta-analysis. J Clin Endocrinol Metab, 109(3), e1290-e1298. Abstract. Author URL.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Melloni GEM, Kanoni S, et al (2024). Genetic drivers of heterogeneity in type 2 diabetes pathophysiology. Nature, 627(8003), 347-357. Abstract. Author URL.
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galão RP, Caswell R, et al (2024). Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency. The Journal of experimental medicine, 221(6). Abstract.
Borges MC, Clayton GL, Freathy RM, Felix JF, Fernández-Sanlés A, Soares AG, Kilpi F, Yang Q, McEachan RRC, Richmond RC, et al (2024). Integrating multiple lines of evidence to assess the effects of maternal BMI on pregnancy and perinatal outcomes. BMC Med, 22(1). Abstract. Author URL.
Felton JL, Redondo MJ, Oram RA, Speake C, Long SA, Onengut-Gumuscu S, Rich SS, Monaco GSF, Harris-Kawano A, Perez D, et al (2024). Islet autoantibodies as precision diagnostic tools to characterize heterogeneity in type 1 diabetes: a systematic review. Commun Med (Lond), 4(1). Abstract. Author URL.
Thompson WD, Reynolds RM, Beaumont RN, Warrington NM, Tyrrell J, Wood AR, Evans DM, McDonald TJ, Hattersley AH, Freathy RM, et al (2024). Maternal plasma cortisol's effect on offspring birth weight: a Mendelian Randomisation study. BMC Pregnancy Childbirth, 24(1). Abstract. Author URL.
Cannon SJ, Hall T, Hawkes G, Colclough K, Boggan RM, Wright CF, Pickett SJ, Hattersley AT, Weedon MN, Patel KA, et al (2024). Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. Hum Mol Genet, 33(5), 465-474. Abstract. Author URL.
Osinga JAJ, Liu Y, Männistö T, Vafeiadi M, Tao F-B, Vaidya B, Vrijkotte TGM, Mosso L, Bassols J, López-Bermejo A, et al (2024). Risk Factors for Thyroid Dysfunction in Pregnancy: an Individual Participant Data Meta-Analysis. Thyroid, 34(5), 646-658. Abstract. Author URL.
Güdemann LM, Young KG, Thomas NJM, Hopkins R, Challen R, Jones AG, Hattersley AT, Pearson ER, Shields BM, Bowden J, et al (2024). Safety and effectiveness of SGLT2 inhibitors in a UK population with type 2 diabetes and aged over 70 years: an instrumental variable approach. Diabetologia Abstract.
Osinga JAJ, Derakhshan A, Feldt-Rasmussen U, Huang K, Vrijkotte TGM, Männistö T, Bassols J, López-Bermejo A, Aminorroaya A, Vafeiadi M, et al (2024). TSH and FT4 Reference Interval Recommendations and Prevalence of Gestational Thyroid Dysfunction: Quantification of Current Diagnostic Approaches. J Clin Endocrinol Metab, 109(3), 868-878. Abstract. Author URL.
Allesøe RL, Lundgaard AT, Hernández Medina R, Aguayo-Orozco A, Johansen J, Nissen JN, Brorsson C, Mazzoni G, Niu L, Biel JH, et al (2023). Author Correction: Discovery of drug-omics associations in type 2 diabetes with generative deep-learning models. Nat Biotechnol, 41(7). Author URL.
Solé-Navais P, Flatley C, Steinthorsdottir V, Vaudel M, Juodakis J, Chen J, Laisk T, LaBella AL, Westergaard D, Bacelis J, et al (2023). Author Correction: Genetic effects on the timing of parturition and links to fetal birth weight. Nat Genet, 55(7). Author URL.
Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, et al (2023). Author Correction: the power of genetic diversity in genome-wide association studies of lipids. Nature, 618(7965), E19-E20. Author URL.
Hughes AE, Houghton JAL, Bunce B, Chakera AJ, Spyer G, Shepherd MH, Flanagan SE, Hattersley AT (2023). Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing. Diabetologia, 66(11), 1997-2006. Abstract.
Clissold R, Bingham C, Hattersley A (2023). Comment on a recent article titled ‘Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia’. Journal of Diabetes Investigation
Allesøe RL, Lundgaard AT, Hernández Medina R, Aguayo-Orozco A, Johansen J, Nissen JN, Brorsson C, Mazzoni G, Niu L, Biel JH, et al (2023). Discovery of drug–omics associations in type 2 diabetes with generative deep-learning models. Nature Biotechnology, 41(3), 399-408. Abstract.
Wyatt RC, Olek S, De Franco E, Samans B, Patel K, Houghton J, Walter S, Schulze J, Bacchetta R, Hattersley AT, et al (2023). FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome. J Clin Immunol, 43(3), 662-669. Abstract. Author URL.
Brown AA, Fernandez-Tajes JJ, Hong M-G, Brorsson CA, Koivula RW, Davtian D, Dupuis T, Sartori A, Michalettou T-D, Forgie IM, et al (2023). Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits. Nature Communications, 14(1).
Solé-Navais P, Flatley C, Steinthorsdottir V, Vaudel M, Juodakis J, Chen J, Laisk T, LaBella AL, Westergaard D, Bacelis J, et al (2023). Genetic effects on the timing of parturition and links to fetal birth weight. Nat Genet, 55(4), 559-567. Abstract. Author URL.
Beaumont RN, Flatley C, Vaudel M, Wu X, Chen J, Moen G-H, Skotte L, Helgeland Ø, Solé-Navais P, Banasik K, et al (2023). Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth. Nature Genetics, 55(11), 1807-1819. Abstract.
Young KG, McGovern AP, Barroso I, Hattersley AT, Jones AG, Shields BM, Thomas NJ, Dennis JM (2023). HbA1c screening for the diagnosis of diabetes. Reply to Brož J, Brabec M, Krollová P et al [letter]. Diabetologia, 66(8), 1578-1579. Author URL.
Bowman P, Patel KA, McDonald TJ, Holst JJ, Hartmann B, Leveridge M, Shields BM, Hammersley S, Spaull SR, Knight BA, et al (2023). Incretin hormone responses to carbohydrate and protein/fat are preserved in adults with sulfonylurea-treated KCNJ11 neonatal diabetes. J Diabetes Investig, 14(12), 1378-1382. Abstract. Author URL.
Hattersley AT (2023). Laboratory Guidelines Are Needed for Diagnostic Genetic Testing for Monogenic Diabetes. Clinical Chemistry, 69(8), 788-790.
Hughes AE, De Franco E, Freathy RM, Fetal Insulin and Growth Consortium, Flanagan SE, Hattersley AT (2023). Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth. J Clin Invest, 133(6). Author URL.
Chwiejczak K, Byles D, Gerry P, Von Lany H, Tasiopoulou A, Hattersley A (2023). Multimodal analysis in symptomatic MIDD-associated retinopathy. A case report and literature review. GMS Ophthalmol Cases, 13 Abstract. Author URL.
Dawed AY, Mari A, Brown A, McDonald TJ, Li L, Wang S, Hong M-G, Sharma S, Robertson NR, Mahajan A, et al (2023). Pharmacogenomics of GLP-1 receptor agonists: a genome-wide analysis of observational data and large randomised controlled trials. The Lancet Diabetes & Endocrinology, 11(1), 33-41.
Cardoso P, Young KG, Nair ATN, Hopkins R, McGovern AP, Haider E, Karunaratne P, Donnelly L, Mateen BA, Sattar N, et al (2023). Phenotype-based targeted treatment of SGLT2 inhibitors and GLP-1 receptor agonists in type 2 diabetes. Abstract.
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, et al (2023). Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. Nature Medicine, 29(10), 2438-2457.
Russ-Silsby J, Patel KA, Laver TW, Hawkes G, Johnson MB, Wakeling MN, Patil PP, Hattersley AT, Flanagan SE, Weedon MN, et al (2023). The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus. Diabetes, 72(11), 1729-1734. Abstract. Author URL.
Thomas NJ, Walkey HC, Kaur A, Misra S, Oliver NS, Colclough K, Weedon MN, Johnston DG, Hattersley AT, Patel KA, et al (2023). The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes. Diabetologia, 66(2), 310-320. Abstract. Author URL.
Nakanga WP, Crampin AC, Mkandawire J, Banda L, Andrews RC, Hattersley AT, Nyirenda MJ, Rodgers LR (2023). Waist circumference and glycaemia are strong predictors of progression to diabetes in individuals with prediabetes in sub-Saharan Africa: 4-year prospective cohort study in Malawi. PLOS Global Public Health, 3(9), e0001263-e0001263. Abstract.
Ramdas S, Judd J, Graham SE, Kanoni S, Wang Y, Surakka I, Wenz B, Clarke SL, Chesi A, Wells A, et al (2022). A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. Am J Hum Genet, 109(8), 1366-1387. Abstract. Author URL.
Yengo L, Vedantam S, Marouli E, Sidorenko J, Bartell E, Sakaue S, Graff M, Eliasen AU, Jiang Y, Raghavan S, et al (2022). A saturated map of common genetic variants associated with human height. Nature, 610(7933), 704-712. Abstract. Author URL.
Nakanga WP, Balungi P, Niwaha AJ, Shields BM, Hughes P, Andrews RC, Mc Donald TJ, Nyirenda MJ, Hattersley AT (2022). Alternative pre-analytic sample handling techniques for glucose measurement in the absence of fluoride tubes in low resource settings. PLoS One, 17(2). Abstract. Author URL.
Cujba A-M, Alvarez-Fallas ME, Pedraza-Arevalo S, Laddach A, Shepherd MH, Hattersley AT, Watt FM, Sancho R (2022). An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function. Cell Reports, 38(9).
Haulder M, Hughes AE, Beaumont RN, Knight BA, Hattersley AT, Shields BM, Freathy RM (2022). Assessing whether genetic scores explain extra variation in birthweight, when added to clinical and anthropometric measures. BMC Pediatrics, 22(1). Abstract.
Bliddal S, Derakhshan A, Xiao Y, Chen L-M, Männistö T, Ashoor G, Tao F, Brown SJ, Vafeiadi M, Itoh S, et al (2022). Association of Thyroid Peroxidase Antibodies and Thyroglobulin Antibodies with Thyroid Function in Pregnancy: an Individual Participant Data Meta-Analysis. Thyroid, 32(7), 828-840. Abstract. Author URL.
Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, et al (2022). Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study. Diabetologia, 65(1), 246-249. Author URL.
Wyatt RC, Hagopian WA, Roep BO, Patel KA, Resnick B, Dobbs R, Hudson M, EXE-T1D Consortium, De Franco E, Ellard S, et al (2022). Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes. Diabetologia, 65(7), 1179-1184. Abstract. Author URL.
Niwaha AJ, Rodgers LR, Carr ALJ, Balungi PA, Mwebaze R, Hattersley AT, Shields BM, Nyirenda MJ, Jones AG (2022). Continuous glucose monitoring demonstrates low risk of clinically significant hypoglycemia associated with sulphonylurea treatment in an African type 2 diabetes population: results from the OPTIMAL observational multicenter study. BMJ Open Diabetes Res Care, 10(2). Abstract. Author URL.
Casanova F, Tyrrell J, Beaumont RN, Ji Y, Jones SE, Hattersley AT, Weedon MN, Murray A, Shore AC, Frayling TM, et al (2022). Corrigendum to: a genome-wide association study implicates multiple mechanisms influencing raised urinary albumin–creatinine ratio. Human Molecular Genetics, 31(9), 1544-1544.
Laver TW, Wakeling MN, Knox O, Colclough K, Wright CF, Ellard S, Hattersley AT, Weedon MN, Patel KA (2022). Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not be Included in Diagnostic Testing for MODY. Diabetes, 71(5), 1128-1136. Abstract. Author URL.
Wesolowska-Andersen A, Brorsson CA, Bizzotto R, Mari A, Tura A, Koivula R, Mahajan A, Vinuela A, Tajes JF, Sharma S, et al (2022). Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: an IMI DIRECT study. Cell Reports Medicine, 3(1), 100477-100477.
Vogelezang S, Bradfield JP, Vogelezang S, Bradfield JP, Johansson S, Stergiakouli E, Thiering E, Pennell CE, Ahluwalia TS, Karhunen V, et al (2022). Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes. BMC Medical Genomics, 15(1). Abstract.
Nair ATN, Wesolowska-Andersen A, Brorsson C, Rajendrakumar AL, Hapca S, Gan S, Dawed AY, Donnelly LA, McCrimmon R, Doney ASF, et al (2022). Heterogeneity in phenotype, disease progression and drug response in type 2 diabetes. Nat Med, 28(5), 982-988. Abstract. Author URL.
Clark CE, Warren FC, Boddy K, McDonagh STJ, Moore SF, Teresa Alzamora M, Ramos Blanes R, Chuang S-Y, Criqui MH, Dahl M, et al (2022). Higher Arm Versus Lower Arm Systolic Blood Pressure and Cardiovascular Outcomes: a Meta-Analysis of Individual Participant Data from the INTERPRESS-IPD Collaboration. Hypertension, 79(10), 2328-2335. Abstract. Author URL.
Greeley SAW, Polak M, Njølstad PR, Barbetti F, Williams R, Castano L, Raile K, Chi DV, Habeb A, Hattersley AT, et al (2022). ISPAD Clinical Practice Consensus Guidelines 2022: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes, 23(8), 1188-1211.
Thomas NJ, McGovern A, Young KG, Sharp SA, Weedon MN, Hattersley AT, Dennis J, Jones AG (2022). Identifying type 1 and 2 diabetes in population level data: assessing the accuracy of published approaches. Abstract.
Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, et al (2022). Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. Genome Biol, 23(1). Abstract. Author URL.
Shields B, Pang L, Colclough K, Shepherd M, McLean J, Pearson E, Ellard S, Hattersley A (2022). Improvements in awareness and testing have led to a threefold increase over 10 years in the identification of monogenic diabetes in the U.K. Diabetes Care
Kibirige D, Sekitoleko I, Balungi P, Kyosiimire-Lugemwa J, Lumu W, Jones AG, Hattersley AT, Smeeth L, Nyirenda MJ (2022). Islet autoantibody positivity in an adult population with recently diagnosed diabetes in Uganda. PLOS ONE, 17(5), e0268783-e0268783. Abstract.
Chopra M, Caswell R, Barcia G, Rondeau S, Jonard L, Nitchké P, Amram D, Bellaiche M-L, Abadie V, Parodi M, et al (2022). Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. Eur J Hum Genet, 30(8), 960-966. Abstract. Author URL.
Mahajan A, Spracklen CN, Zhang W, Ng MCY, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJ, et al (2022). Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat Genet, 54(5), 560-572. Abstract. Author URL.
Patel KA, Burman S, Laver TW, Hattersley AT, Frayling TM, Weedon MN (2022). PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile. J Clin Endocrinol Metab, 107(6), e2318-e2323. Abstract. Author URL.
Shields BM, Angwin CD, Shepherd MH, Britten N, Jones AG, Sattar N, Holman R, Pearson ER, Hattersley AT (2022). Patient preference for second- and third-line therapies in type 2 diabetes: a prespecified secondary endpoint of the TriMaster study. Nature Medicine, 29(2), 384-391.
Shields BM, Dennis JM, Angwin CD, Warren F, Henley WE, Farmer AJ, Sattar N, Holman RR, Jones AG, Pearson ER, et al (2022). Patient stratification for determining optimal second-line and third-line therapy for type 2 diabetes: the TriMaster study. Nature Medicine, 29(2), 376-383.
McGovern AP, Hirwa KD, Wong AK, Holland CJE, Mayne I, Hashimi A, Thompson R, Creese V, Havill S, Sanders T, et al (2022). Patient-led rapid titration of basal insulin in gestational diabetes is associated with improved glycaemic control and lower birthweight. Diabet Med, 39(10). Abstract. Author URL.
Cannon S, Clissold R, Sukcharoen K, Tuke M, Hawkes G, Beaumont RN, Wood AR, Gilchrist M, Hattersley AT, Oram RA, et al (2022). Recurrent 17q12 microduplications contribute to renal disease but not diabetes. Journal of Medical Genetics, 60(5), 491-497. Abstract.
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM, et al (2022). Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. Am J Hum Genet, 109(11), 2018-2028. Abstract. Author URL.
Meek CL, Oram RA, McDonald TJ, Feig DS, Hattersley AT, Murphy HR (2022). Response to Comment on Meek et al. Reappearance of C-Peptide During the Third Trimester in Type 1 Diabetes Pregnancy: Pancreatic Regeneration or Fetal Hyperinsulinism? Diabetes Care 2021;44:1826-1834. Diabetes Care, 45(2), e43-e44. Author URL.
Eason RJ, Thomas NJ, Hill AV, Knight BA, Carr A, Hattersley AT, McDonald TJ, Shields BM, Jones AG (2022). Routine islet autoantibody testing in clinically diagnosed adult-onset type 1 diabetes can help identify misclassification and guide successful insulin cessation. DIABETOLOGIA, 65(SUPPL 1), S153-S154. Author URL.
Colclough K, Ellard S, Hattersley A, Patel K (2022). Syndromic Monogenic Diabetes Genes Should be Tested in Patients with a Clinical Suspicion of Maturity-Onset Diabetes of the Young. Diabetes, 71(3), 530-537. Abstract. Author URL.
Patel KA, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Siklar Z, Atar M, Colclough K, Houghton J, et al (2022). Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics. Diabetologia, 65(2), 336-342. Abstract. Author URL.
Young KG, McGovern AP, Barroso I, Hattersley AT, Jones AG, Shields BM, Thomas NJ, Dennis JM (2022). The impact of population-level HbA1c screening on reducing diabetes diagnostic delay in middle-aged adults: a UK Biobank analysis. Diabetologia, 66(2), 300-309. Abstract.
Kibirige D, Sekitoleko I, Lumu W, Jones AG, Hattersley AT, Smeeth L, Nyirenda MJ (2022). Understanding the pathogenesis of lean non-autoimmune diabetes in an African population with newly diagnosed diabetes. Diabetologia, 65(4), 675-683. Abstract.
Ludwig-Słomczyńska AH, Seweryn MT, Radkowski P, Kapusta P, Machlowska J, Pruhova S, Gasperikova D, Bellanne-Chantelot C, Hattersley A, Kandasamy B, et al (2022). Variants influencing age at diagnosis of HNF1A-MODY. Molecular Medicine, 28(1). Abstract.
MEEK CL, ORAM RA, MCDONALD TJ, FEIG D, HATTERSLEY AT, MURPHY HR (2021). 94-OR: Reappearance of C-Peptide during the Third Trimester in Type 1 Diabetes Pregnancy: Pancreatic Regeneration or Fetal Hyperinsulinism?. Diabetes, 70(Supplement_1).
MAYNE IK, THOMAS N, HATTERSLEY AT, MCGOVERN AP (2021). 954-P: in Gestational Diabetes, Patient-Led Insulin Titration is Rapidly Effective without Detrimental Hypoglycaemia. Diabetes, 70(Supplement_1).
A C, M S, S E, M W, a L, G F, K C, Q B, C V-A, SA I, et al (2021). Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should Lead to testing for MODY: lessons from a 5-year pediatric Swedish National Cohort study.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2021). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Greiner R, Nyirenda M, Rodgers L, Asiki G, Banda L, Shields B, Hattersley A, Crampin A, Newton R, Jones A, et al (2021). Associations between low HDL, sex and cardiovascular risk markers are substantially different in sub-Saharan Africa and the UK: analysis of four population studies. BMJ Global Health, 6(5), e005222-e005222. Abstract.
Rodgers LR, Hill AV, Dennis JM, Craig Z, May B, Hattersley AT, McDonald TJ, Andrews RC, Jones A, Shields BM, et al (2021). Choice of HbA1c threshold for identifying individuals at high risk of type 2 diabetes and implications for diabetes prevention programmes: a cohort study. BMC Medicine, 19(1). Abstract.
Koivula RW, Atabaki-Pasdar N, Giordano GN, White T, Adamski J, Bell JD, Beulens J, Brage S, Brunak S, De Masi F, et al (2021). Correction to: the role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study (Diabetologia, (2020), 63, 4, (744-756), 10.1007/s00125-019-05083-6). Diabetologia, 64(1), 260-261. Abstract.
Dennis JM, Young KG, McGovern AP, Mateen BA, Vollmer SJ, Simpson MD, Henley WE, Holman RR, Sattar N, Pearson ER, et al (2021). Derivation and validation of a type 2 diabetes treatment selection algorithm for SGLT2-inhibitor and DPP4-inhibitor therapies based on glucose-lowering efficacy: cohort study using trial and routine clinical data. Abstract.
Evans BD, Słowiński P, Hattersley AT, Jones SE, Sharp S, Kimmitt RA, Weedon MN, Oram RA, Tsaneva-Atanasova K, Thomas NJ, et al (2021). Estimating disease prevalence in large datasets using genetic risk scores. Nature Communications, 12(1). Abstract.
Volz E, Hill V, McCrone JT, Price A, Jorgensen D, O’Toole Á, Southgate J, Johnson R, Jackson B, Nascimento FF, et al (2021). Evaluating the Effects of SARS-CoV-2 Spike Mutation D614G on Transmissibility and Pathogenicity. Cell, 184(1), 64-75.e11.
Thompson WD, Beaumont RN, Kuang A, Warrington NM, Ji Y, Tyrrell J, Wood AR, Scholtens DM, Knight BA, Evans DM, et al (2021). Fetal alleles predisposing to metabolically favorable adiposity are associated with higher birth weight. Human Molecular Genetics, 31(11), 1762-1775. Abstract.
Viñuela A, Brown AA, Fernandez J, Hong M-G, Brorsson CA, Koivula RW, Davtian D, Dupuis T, Forgie IM, Adam J, et al (2021). Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study. Abstract.
Niwaha AJ, Rodgers LR, Greiner R, Balungi PA, Mwebaze R, McDonald TJ, Hattersley AT, Shields BM, Nyirenda MJ, Jones AG, et al (2021). HbA1c performs well in monitoring glucose control even in populations with high prevalence of medical conditions that may alter its reliability: the OPTIMAL observational multicenter study. BMJ Open Diabetes Research & Care, 9(1), e002350-e002350. Abstract.
Hughes AE, De Franco E, Globa E, Zelinska N, Hilgard D, Sifianou P, Hattersley AT, Flanagan SE (2021). Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: a case series and review of clinical features. Pediatr Diabetes, 22(6), 876-881. Abstract. Author URL.
Støy J, De Franco E, Ye H, Park S-Y, Bell GI, Hattersley AT (2021). In celebration of a century with insulin - Update of insulin gene mutations in diabetes. Mol Metab, 52 Abstract. Author URL.
Jones AG, McDonald TJ, Shields BM, Hagopian W, Hattersley AT (2021). Latent Autoimmune Diabetes of Adults (LADA) is Likely to Represent a Mixed Population of Autoimmune (Type 1) and Nonautoimmune (Type 2) Diabetes. Diabetes Care, 44(6), 1243-1251. Abstract.
Bowman P, Mathews F, Barbetti F, Shepherd MH, Sanchez J, Piccini B, Beltrand J, Letourneau-Freiberg LR, Polak M, Greeley SAW, et al (2021). Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients with Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. Diabetes Care, 44(1), 35-42. Abstract. Author URL.
Montaser H, Patel KA, Balboa D, Ibrahim H, Lithovius V, Näätänen A, Chandra V, Demir K, Acar S, Ben-Omran T, et al (2021). Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress. Diabetes, 70(4), 1006-1018. Abstract. Author URL.
Hiller H, Beachy DE, Lebowitz JJ, Engler S, Mason JR, Miller DR, Kusmarteva I, Jacobsen LM, Posgai AL, Khoshbouei H, et al (2021). Monogenic Diabetes and Integrated Stress Response Genes Display Altered Gene Expression in Type 1 Diabetes. Diabetes, 70(8), 1885-1897. Abstract. Author URL.
Johnson MB, Hattersley AT, Patel KA (2021). More on STAT1 Gain of Function, Type 1 Diabetes, and JAK Inhibition. N Engl J Med, 384(1). Author URL.
I A, MA M, E DF, V G, S F, J G-H, G M, P R, L P, S E, et al (2021). Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.
Akerman I, Maestro MA, De Franco E, Grau V, Flanagan S, García-Hurtado J, Mittler G, Ravassard P, Piemonti L, Ellard S, et al (2021). Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene. Cell Rep, 35(2). Abstract. Author URL.
Tura A, Grespan E, Göbl CS, Koivula RW, Franks PW, Pearson ER, Walker M, Forgie IM, Giordano GN, Pavo I, et al (2021). Profiles of Glucose Metabolism in Different Prediabetes Phenotypes, Classified by Fasting Glycemia, 2-Hour OGTT, Glycated Hemoglobin, and 1-Hour OGTT: an IMI DIRECT Study. Diabetes, 70(9), 2092-2106. Abstract. Author URL.
Meek CL, Oram RA, McDonald TJ, Feig DS, Hattersley AT, Murphy HR, CONCEPTT Collaborative Group (2021). Reappearance of C-Peptide During the Third Trimester of Pregnancy in Type 1 Diabetes: Pancreatic Regeneration or Fetal Hyperinsulinism?. Diabetes Care, 44(8), 1826-1834. Abstract. Author URL.
Thomas NJ, Walkey HC, Kaur A, Misra S, Oliver NS, Colclough K, Weedon MN, Johnston DG, Hattersley AT, Patel KA, et al (2021). The absence of islet autoantibodies in clinically diagnosed older-adult onset type 1 diabetes suggests an alternative pathology, advocating for routine testing in this age group. Abstract.
McGovern AP, Thomas NJ, Vollmer SJ, Hattersley AT, Mateen BA, Dennis JM (2021). The disproportionate excess mortality risk of COVID-19 in younger people with diabetes warrants vaccination prioritisation. Diabetologia, 64(5), 1184-1186. Author URL.
Graham SE, Clarke SL, Wu K-HH, Kanoni S, Zajac GJM, Ramdas S, Surakka I, Ntalla I, Vedantam S, Winkler TW, et al (2021). The power of genetic diversity in genome-wide association studies of lipids. Nature, 600(7890), 675-679. Abstract. Author URL.
Hughes AE, Hattersley AT, Flanagan SE, Freathy RM (2021). Two decades since the fetal insulin hypothesis: what have we learned from genetics?. Diabetologia, 64(4), 717-726. Abstract.
Masoli JAH, Jeffries A, Temperton B, Auckland C, Michelsen M, Warwick-Dugdale J, Manley R, Farbos A, Ellard S, Knight B, et al (2021). Viral genetic sequencing identifies staff transmission of COVID-19 is important in a community hospital outbreak. Abstract.
Casanova F, Wood AR, Yaghootkar H, Beaumont RN, Jones SE, Gooding KM, Aizawa K, Strain WD, Hattersley AT, Khan F, et al (2020). A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function. Diabetes, 69(5), 1072-1082. Abstract. Author URL.
Kishore S, De Franco E, Cardenas-Diaz FL, Letourneau-Freiberg LR, Sanyoura M, Osorio-Quintero C, French DL, Greeley SAW, Hattersley AT, Gadue P, et al (2020). A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. Cell Stem Cell, 27(1), 137-146.e6. Abstract. Author URL.
Bar N, Korem T, Weissbrod O, Zeevi D, Rothschild D, Leviatan S, Kosower N, Lotan-Pompan M, Weinberger A, Le Roy CI, et al (2020). A reference map of potential determinants for the human serum metabolome. Nature, 588(7836), 135-140. Abstract.
Carlsson A, Shepherd M, Ellard S, Weedon M, Lernmark Å, Forsander G, Colclough K, Brahimi Q, Valtonen-Andre C, Ivarsson SA, et al (2020). Absence of Islet Autoantibodies and Modestly Raised Glucose Values at Diabetes Diagnosis Should Lead to Testing for MODY: Lessons from a 5-Year Pediatric Swedish National Cohort Study. Diabetes Care, 43(1), 82-89. Abstract. Author URL.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Hughes AE, Hayes MG, Egan AM, Patel KA, Scholtens DM, Lowe LP, Lowe Jr WL, Dunne FP, Hattersley AT, Freathy RM, et al (2020). All thresholds of maternal hyperglycaemia from the WHO 2013 criteria for gestational diabetes identify women with a higher genetic risk for type 2 diabetes. Wellcome Open Research, 5, 175-175. Abstract.
Clark C, Warren F, Boddy K, McDonagh S, Moore S, Goddard J, Reed N, Turner M, Alzamora MT, Ramos Blanes R, et al (2020). Associations Between Systolic Interarm Differences in Blood Pressure and Cardiovascular Disease Outcomes and Mortality: Individual Participant Data Meta-Analysis, Development and Validation of a Prognostic Algorithm: the INTERPRESS-IPD Collaboration. Hypertension, n/a, 1-12.
Evans BD, Słowiński P, Hattersley AT, Jones SE, Sharp S, Kimmitt RA, Weedon MN, Oram RA, Tsaneva-Atanasova K, Thomas NJ, et al (2020). Estimating population level disease prevalence using genetic risk scores. Abstract.
Thompson WD, Beaumont RN, Kuang A, Warrington NM, Ji Y, Tyrrell J, Wood AR, Scholtens D, Knight BA, Evans DM, et al (2020). Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight. Abstract.
Thompson WD, Beaumont RN, Kuang A, Warrington NM, Ji Y, Tyrrell J, Wood AR, Scholtens D, Knight BA, Evans DM, et al (2020). Higher maternal adiposity reduces offspring birth weight if associated with a metabolically favourable profile. Abstract.
Erzurumluoglu AM, Liu M, Jackson VE, Barnes DR, Datta G, Melbourne CA, Young R, Batini C, Surendran P, Jiang T, et al (2020). Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci. Mol Psychiatry, 25(10), 2392-2409. Abstract. Author URL.
Riddle MC, Philipson LH, Rich SS, Carlsson A, Franks PW, Greeley SAW, Nolan JJ, Pearson ER, Zeitler PS, Hattersley AT, et al (2020). Monogenic Diabetes: from Genetic Insights to Population-Based Precision in Care. Reflections from a <i>Diabetes Care</i> Editors’ Expert Forum. Diabetes Care, 43(12), 3117-3128. Abstract.
Vogelezang S, Bradfield JP, Ahluwalia TS, Curtin JA, Lakka TA, Grarup N, Scholz M, van der Most PJ, Monnereau C, Stergiakouli E, et al (2020). Novel loci for childhood body mass index and shared heritability with adult cardiometabolic traits. PLoS Genet, 16(10). Abstract. Author URL.
Zeman AZJ, Milton F, Della Sala S, Dewar M, Frayling T, Gaddum J, Hattersley A, Heuerman-Williamson B, Jones K, Mackisack M, et al (2020). Phantasia - the psychological significance of lifelong visual imagery vividness extremes. Cortex, 130, 426-440.
Zeman A, Milton F, Della Sala S, Dewar M, Frayling T, Gaddum J, Hattersley A, Heuerman-Williamson B, Jones K, MacKisack M, et al (2020). Phantasia - the psychological significance of lifelong visual imagery vividness extremes. Abstract.
Chung WK, Erion K, Florez JC, Hattersley AT, Hivert M-F, Lee CG, McCarthy MI, Nolan JJ, Norris JM, Pearson ER, et al (2020). Precision Medicine in Diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetes Care, 43(7), 1617-1635. Abstract.
Dennis JM (2020). Precision Medicine in Type 2 Diabetes: Using Individualized Prediction Models to Optimize Selection of Treatment. Diabetes, 69(10), 2075-2085. Abstract.
Chung WK, Erion K, Florez JC, Hattersley AT, Hivert M-F, Lee CG, McCarthy MI, Nolan JJ, Norris JM, Pearson ER, et al (2020). Precision medicine in diabetes: a Consensus Report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). Diabetologia, 63(9), 1671-1693. Abstract. Author URL.
Atabaki-Pasdar N, Ohlsson M, Viñuela A, Frau F, Pomares-Millan H, Haid M, Jones AG, Thomas EL, Koivula RW, Kurbasic A, et al (2020). Predicting and elucidating the etiology of fatty liver disease: a machine learning modeling and validation study in the IMI DIRECT cohorts. PLOS Medicine, 17(6), e1003149-e1003149.
Agbaje OF, Coleman RL, Hattersley AT, Jones AG, Pearson ER, Shields BM, Holman RR (2020). Predicting post one-year durability of glucose-lowering monotherapies in patients with newly-diagnosed type 2 diabetes mellitus – a MASTERMIND precision medicine approach (UKPDS 87). Diabetes Research and Clinical Practice, 166, 108333-108333.
Rodgers LR, Dennis JM, Shields BM, Mounce L, Fisher I, Hattersley AT, Henley WE (2020). Prior event rate ratio adjustment produced estimates consistent with randomized trial: a diabetes case study. Journal of Clinical Epidemiology, 122, 78-86.
Bizzotto R, Jennison C, Jones AG, Kurbasic A, Tura A, Kennedy G, Bell JD, Thomas EL, Frost G, Eriksen R, et al (2020). Processes Underlying Glycemic Deterioration in Type 2 Diabetes: an IMI DIRECT Study. Diabetes Care, 44(2), 511-518. Abstract.
McGovern AP, Hogg M, Shields BM, Sattar NA, Holman RR, Pearson ER, Hattersley AT, Jones AG, Dennis JM (2020). Risk factors for genital infections in people initiating SGLT2 inhibitors and their impact on discontinuation. BMJ Open Diabetes Research & Care, 8(1), e001238-e001238. Abstract.
Donnelly LA, Dennis JM, Coleman RL, Sattar N, Hattersley AT, Holman RR, Pearson ER (2020). Risk of Anemia with Metformin Use in Type 2 Diabetes: a MASTERMIND Study. Diabetes Care, 43(10), 2493-2499. Abstract.
Jones AG, Shields BM, Dennis JM, Hattersley AT, McDonald TJ, Thomas NJ (2020). The challenge of diagnosing type 1 diabetes in older adults. Diabet Med, 37(10), 1781-1782. Author URL.
Koivula RW, Atabaki-Pasdar N, Giordano GN, White T, Adamski J, Bell JD, Beulens J, Brage S, Brunak S, De Masi F, et al (2020). The role of physical activity in metabolic homeostasis before and after the onset of type 2 diabetes: an IMI DIRECT study. Diabetologia, 63(4), 744-756. Abstract. Author URL.
Angwin C, Jenkinson C, Jones A, Jennison C, Henley W, Farmer A, Sattar N, Holman RR, Pearson E, Shields B, et al (2020). TriMaster: randomised double-blind crossover study of a DPP4 inhibitor, SGLT2 inhibitor and thiazolidinedione as second-line or third-line therapy in patients with type 2 diabetes who have suboptimal glycaemic control on metformin treatment with or without a sulfonylurea—a MASTERMIND study protocol. BMJ Open, 10(12), e042784-e042784. Abstract.
Dennis JM, Mateen BA, Sonabend R, Thomas NJ, Patel KA, Hattersley AT, Denaxas S, McGovern AP, Vollmer SJ (2020). Type 2 Diabetes and COVID-19–Related Mortality in the Critical Care Setting: a National Cohort Study in England, March–July 2020. Diabetes Care, 44(1), 50-57. Abstract.
Gudmundsdottir V, Pedersen HK, Mazzoni G, Allin KH, Artati A, Beulens JW, Banasik K, Brorsson C, Cederberg H, Chabanova E, et al (2020). Whole blood co-expression modules associate with metabolic traits and type 2 diabetes: an IMI-DIRECT study. Genome Medicine, 12(1). Abstract.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling M, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, et al (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. Journal of Clinical Investigation, 130
PATEL KA, THOMAS N, WEEDON MN, WALKEY HC, KAUR A, WILLIAMS AJ, MISRA S, OLIVER N, JOHNSTON DG, HATTERSLEY AT, et al (2019). 1683-P: Analysis of Type 1 Diabetes Genetic Risk Score Shows 1 in 8 People with Clinically Diagnosed Adult-Onset T1D Are Misdiagnosed, and Presenting Features at Diagnosis Do Not Identify Those Misdiagnosed. Diabetes, 68(Supplement_1).
Casanova F, Tyrrell J, Beaumont RN, Ji Y, Jones SE, Hattersley AT, Weedon MN, Murray A, Shore AC, Frayling TM, et al (2019). A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio. Hum Mol Genet, 28(24), 4197-4207. Abstract. Author URL.
De Franco E, Flanagan S, Caswell R, Ellard S, Hattersley A, Watson RA, Weninger WJ, Wong CC, Caswell R, Green A, et al (2019). A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. American Journal of Human Genetics
Wright CF, West B, Tuke M, Jones SE, Patel K, Laver TW, Beaumont RN, Tyrrell J, Wood AR, Frayling TM, et al (2019). Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting. American Journal of Human Genetics, 104(2), 275-286. Abstract.
Thompson WD, Tyrrell J, Borges MC, Beaumont RN, Knight BA, Wood AR, Ring SM, Hattersley AT, Freathy RM, Lawlor DA, et al (2019). Association of maternal circulating 25(OH)D and calcium with birth weight: a mendelian randomisation analysis. PLoS Medicine, 16
Dennis JM, Shields BM, Henley WE, Jones AG, Hattersley AT (2019). Clusters provide a better holistic view of type 2 diabetes than simple clinical features - Authors' reply. Lancet Diabetes Endocrinol, 7(9). Author URL.
Bowman P, Day J, Torrens L, Shepherd MH, Knight BA, Ford TJ, Flanagan SE, Chakera A, Hattersley AT, Zeman A, et al (2019). Cognitive, Neurological, and Behavioral Features in Adults with KCNJ11 Neonatal Diabetes. Diabetes Care, 42(2), 215-224. Abstract. Author URL.
Romagnoni A, Jégou S, Van Steen K, Wainrib G, Hugot JP, Peyrin-Biroulet L, Chamaillard M, Colombel JF, Cottone M, D’Amato M, et al (2019). Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data. Scientific Reports, 9(1). Abstract.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(3). Abstract. Author URL.
Koivula RW, Forgie IM, Kurbasic A, Viñuela A, Heggie A, Giordano GN, Hansen TH, Hudson M, Koopman ADM, Rutters F, et al (2019). Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: descriptive characteristics of the epidemiological studies within the IMI DIRECT Consortium. Diabetologia, 62(9), 1601-1615. Abstract. Author URL.
Dennis J, Shields B, Henley W, Jones A, Hattersley A (2019). Disease progression and treatment response in data-driven subgroups of type 2 diabetes compared to models based on simple clinical features: an evaluation using clinical trial data. Lancet Diabetes and Endocrinology
Myngheer N, Allegaert K, Hattersley A, McDonald T, Kramer H, Ashcroft FM, Verhaeghe J, Mathieu C, Casteels K (2019). Erratum: Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes (Diabetes Care (2014) 37 (3333–3335) DOI: 10.2337/dc14-1247). Diabetes Care, 42(7). Abstract.
Chia CY, Madrigal P, Denil SLIJ, Martinez I, Garcia-Bernardo J, El-Khairi R, Chhatriwala M, Shepherd MH, Hattersley AT, Dunn NR, et al (2019). GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation. Stem Cell Reports, 12(1), 57-70. Abstract. Author URL.
Alves AC, De Silva NMG, Karhunen V, Sovio U, Das S, Rob Taal H, Warrington NM, Lewin AM, Kaakinen M, Cousminer DL, et al (2019). GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. Science Advances, 5(9). Abstract.
Ji Y, Yiorkas AM, Frau F, Mook-Kanamori D, Staiger H, Thomas EL, Atabaki-Pasdar N, Campbell A, Tyrrell J, Jones SE, et al (2019). Genome-Wide and Abdominal MRI Data Provide Evidence That a Genetically Determined Favorable Adiposity Phenotype is Characterized by Lower Ectopic Liver Fat and Lower Risk of Type 2 Diabetes, Heart Disease, and Hypertension. Diabetes, 68(1), 207-219. Abstract. Author URL.
Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(4), 982-986. Abstract. Author URL.
Warrington NM, Beaumont RN, Horikoshi M, Day FR, Helgeland Ø, Laurin C, Bacelis J, Peng S, Hao K, Feenstra B, et al (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nat Genet, 51(5), 804-814. Abstract. Author URL.
Pulit SL, Stoneman C, Morris AP, Wood AR, Glastonbury CA, Tyrrell J, Yengo L, Ferreira T, Marouli E, Ji Y, et al (2019). Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. Hum Mol Genet, 28(1), 166-174. Abstract. Author URL.
Shah N, Coathup V, Teare H, Forgie I, Giordano GN, Hansen TH, Groeneveld L, Hudson M, Pearson E, Ruetten H, et al (2019). Motivations for data sharing—views of research participants from four European countries: a DIRECT study. European Journal of Human Genetics, 27(5), 721-729. Abstract.
Bowman P, McDonald TJ, Knight BA, Flanagan SE, Leveridge M, Spaull SR, Shields BM, Hammersley S, Shepherd MH, Andrews RC, et al (2019). Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-K ATP -channel pathways. BMJ Open Diabetes Research and Care, 7(1). Abstract.
Marren SM, Hammersley S, McDonald TJ, Shields BM, Knight BA, Hill A, Bolt R, Tree TI, Roep BO, Hattersley AT, et al (2019). Persistent C-peptide is associated with reduced hypoglycaemia but not HbA1c in adults with longstanding Type 1 diabetes: evidence for lack of intensive treatment in UK clinical practice?. Diabet Med, 36(9), 1092-1099. Abstract. Author URL.
Ellard S, Colclough K, Patel KA, Hattersley AT (2019). Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. Journal of Clinical Investigation, 130(1), 14-16.
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, et al (2019). Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. Nature Genetics, 51(3), 452-469. Abstract.
Strakova V, Elblova L, Johnson MB, Dusatkova P, Obermannova B, Petruzelkova L, Kolouskova S, Snajderova M, Fronkova E, Svaton M, et al (2019). Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?. J Pediatr Endocrinol Metab, 32(10), 1147-1153. Abstract. Author URL.
Middeldorp CM, Felix JF, Mahajan A, McCarthy MI (2019). The early growth genetics (Egg) and early genetics and lifecourse epidemiology (eagle) consortia: Design, results and future prospects. European Journal of Epidemiology, 34(3), 279-300. Abstract.
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Johnson MBJ, De Franco E, Atma W Greeley S, Letourneau LR, Gillespie K, Wakeling MN, Ellard S, Flanagan SE, Patel K, Hattersley AT, et al (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated. Diabetes
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Bowman P, Flanagan SE, Hattersley AT (2018). Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity. JOURNAL OF DIABETES RESEARCH, 2018 Author URL.
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Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, et al (2018). PLIN1 Haploinsufficiency is Not Associated with Lipodystrophy. J Clin Endocrinol Metab, 103(9), 3225-3230. Abstract. Author URL.
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Dennis J, Shields B, Hill A, Knight B, McDonald T, Rodgers L, Weedon M, Henley W, Sattar N, Holman R, et al (2018). Precision medicine in Type 2 diabetes: Clinical markers of insulin resistance are associated with altered short- and long-term glycemic response to DPP-4 inhibitor therapy. Diabetes Care
Davis WA, Peters KE, Makepeace A, Griffiths S, Bundell C, Grant SFA, Ellard S, Hattersley AT, Paul Chubb SA, Bruce DG, et al (2018). Prevalence of diabetes in Australia: insights from the Fremantle Diabetes Study Phase II. Intern Med J, 48(7), 803-809. Abstract. Author URL.
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, et al (2018). Protein-Coding Variants Implicate Novel Genes Related to Lipid Homeostasis Contributing to Body Fat Distribution. Abstract.
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Laver T, Wakeling M, Knox O, De-Franco E, Flanagan S, Colclough K, Ellard S, Hattersley A, Weedon M, Patel K, et al (2018). Redefining the pathogenicity of Maturity Onset Diabetes of the Young (MODY) genes: BLK, PAX4 and KLF11 do not cause MODY. DIABETIC MEDICINE, 35, 10-10. Author URL.
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Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, et al (2018). The Common HNF1A Variant I27L is a Modifier of Age at Diabetes Diagnosis in Individuals with HNF1A-MODY. Diabetes, 67(9), 1903-1907. Abstract. Author URL.
Rewers M, Hyöty H, Lernmark Å, Hagopian W, She JX, Schatz D, Ziegler PG, Toppari J, Akolkar B, Krischer J, et al (2018). The Environmental Determinants of Diabetes in the Young (TEDDY) Study: 2018 Update. Current Diabetes Reports, 18(12). Abstract.
Curtis HJ, Dennis JM, Shields BM, Walker AJ, Bacon S, Hattersley AT, Jones AG, Goldacre B (2018). Time trends and geographical variation in prescribing of drugs for diabetes in England from 1998 to 2017. Diabetes Obes Metab, 20(9), 2159-2168. Abstract. Author URL.
Thomas N, Grubb A, McDonald T, Hill A, Weedon M, Oram R, Hattersley A, Jones A (2018). Type 1 diabetes leading to severe insulin deficiency occurs after 30 years of age and is commonly treated as type 2 diabetes in clinical practice. DIABETOLOGIA, 61, S152-S152. Author URL.
Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikainen L-P, et al (2017). <i>SOS2</i> and <i>ACP1</i> Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 28(3), 981-994. Author URL.
Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, et al (2017). A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population is Associated with Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes, 66(7), 2019-2032. Abstract. Author URL.
Katanic D, Vorgučin I, Hattersley A, Ellard S, Houghton JAL, Obreht D, Knežević Pogančev M, Vlaški J, Pavkov D (2017). A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up. Diabetes Res Clin Pract, 129, 59-61. Abstract. Author URL.
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De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (2017). Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med, 34(4), 582-585. Abstract. Author URL.
Hope SV, Taylor PJ, Shields BM, Hattersley AT, Hamilton W (2017). Are we missing hypoglycaemia?. Elderly patients with insulin-treated diabetes present to. primary care frequently with non-specific symptoms. associated with hypoglycaemia. Primary Care Diabetes
Chalkia D, Singh LN, Leipzig J, Lvova M, Derbeneva O, Lakatos A, Hadley D, Hakonarson H, Wallace DC (2017). Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders. JAMA psychiatry, 74(11), 1161-1168. Abstract.
Kemppainen KM, Vehik K, Lynch KF, Larsson HE, Canepa RJ, Simell V, Koletzko S, Liu E, Simell OG, Toppari J, et al (2017). Association between early-life antibiotic use and the risk of islet or celiac disease autoimmunity. JAMA Pediatrics, 171(12), 1217-1225. Abstract.
Song C, Burgess S, Eicher JD, O'Donnell CJ, Johnson AD, Huang J, Sabater-Lleal M, Asselbergs FW, Tregouet D, Shin SY, et al (2017). Causal effect of plasminogen activator inhibitor type 1 on coronary heart disease. Journal of the American Heart Association, 6(6). Abstract.
Hoffman JD, Graff RE, Emami NC, Tai CG, Passarelli MN, Hu D, Huntsman S, Hadley D, Leong L, Majumdar A, et al (2017). Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk. PLoS Genetics, 13(3). Abstract.
Glessner JT, Li J, Wang D, March M, Lima L, Desai A, Hadley D, Kao C, Gur RE, Cohen N, et al (2017). Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. Genome Medicine, 9(1). Abstract.
Eibich P, Green A, Hattersley AT, Jennison C, Lonergan M, Pearson ER, Gray AM (2017). Costs and Treatment Pathways for Type 2 Diabetes in the UK: a Mastermind Cohort Study. Diabetes Ther, 8(5), 1031-1045. Abstract. Author URL.
Lonergan M, Senn SJ, McNamee C, Daly AK, Sutton R, Hattersley A, Pearson E, Pirmohamed M (2017). Defining drug response for stratified medicine. Drug Discov Today, 22(1), 173-179. Abstract. Author URL.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract. Author URL.
Gopalakrishna G, Langendam M, Scholten R, Bossuyt P, Leeflang M, Noel-Storr A, Thomas J, Marshall I, Wallace B, Whiting P, et al (2017). Erratum to: Methods for evaluating medical tests and biomarkers. Diagn Progn Res, 1 Abstract. Author URL.
Hinney A, Kesselmeier M, Jall S, Volckmar AL, Föcker M, Antel J, Heid IM, Winkler TW, Grant SFA, Guo Y, et al (2017). Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. Molecular Psychiatry, 22(2), 192-201. Abstract.
De Silva NMG, Sebert S, Alves AC, Sovio U, Das S, Taal R, Warrington NM, Lewin AM, Kaakinen M, Cousminer D, et al (2017). Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity. Abstract.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous <i>RFX6</i> protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance. Abstract.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract. Author URL.
Day JO, Flanagan SE, Shepherd MH, Patrick AW, Abid N, Torrens L, Zeman AJ, Patel KA, Hattersley AT (2017). Hyperglycaemia‐related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes. Diabetic Medicine, 34(7), 1000-1004. Abstract.
Köhler M, Beyerlein A, Vehik K, Greven S, Umlauf N, Lernmark Å, Hagopian WA, Rewers M, She JX, Toppari J, et al (2017). Joint modeling of longitudinal autoantibody patterns and progression to type 1 diabetes: results from the TEDDY study. Acta Diabetologica, 54(11), 1009-1017. Abstract.
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Bowman P, Hattersley AT, Knight BA, Broadbridge E, Pettit L, Reville M, Flanagan SE, Shepherd MH, Ford TJ, Tonks J, et al (2017). Neuropsychological impairments in children with KCNJ11 neonatal diabetes. Diabet Med, 34(8), 1171-1173. Author URL.
Hilbrands R, Keymolen K, Michotte A, Marichal M, Cools F, Goossens A, Veld PI, De Schepper J, Hattersley A, Heimberg H, et al (2017). Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. BMC Med Genet, 18(1). Abstract. Author URL.
Shields B, Shepherd M, Hudson M, McDonald T, Colclough K, Peters J, Knight B, Hyde C, Ellard S, Pearson E, et al (2017). Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients. Diabetes Care
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Hattersley AT, Patel KA (2017). Precision diabetes: learning from monogenic diabetes. Diabetologia, 60(5), 769-777. Abstract. Author URL.
Smith LB, Lynch KF, Kurppa K, Koletzko S, Krischer J, Liu E, Johnson SB, Agardh D, Rewers M, Bautista K, et al (2017). Psychological manifestations of celiac disease autoimmunity in young children. Pediatrics, 139(3). Abstract.
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Habeb AM, George ET, Mathew V, Hattersley AL (2017). Response to Oral Glidazide in a Pre-Pubertal Child with Hepatic Nuclear Factor-1 Alpha Maturity Onset Diabetes of the Young. Annals of Saudi Medicine, 31(2), 190-193.
McDonald TJ, Besser RE, Perry M, Babiker T, Knight BA, Shepherd MH, Ellard S, Flanagan SE, Hattersley AT (2017). Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement. Diabetologia, 60(11), 2168-2173. Abstract.
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, et al (2017). Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data, 4 Abstract. Author URL.
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Collins TA, Hattersley MM, Yates JWT, Clark E, Mondal M, Mettetal JT (2017). Translational Modeling of Drug-Induced Myelosuppression and Effect of Pretreatment Myelosuppression for AZD5153, a Selective BRD4 Inhibitor. CPT: Pharmacometrics & Systems Pharmacology, 6(6), 357-364.
Oram RA, Patel K, Hill A, Shields B, McDonald TJ, Jones A, Hattersley AT, Weedon MN (2016). A Type 1 Diabetes Genetic Risk Score can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care, 39(3), 337-344. Abstract. Author URL.
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Farmer AJ, Rodgers LR, Lonergan M, Shields B, Weedon MN, Donnelly L, Holman RR, Pearson ER, Hattersley AT (2016). Adherence to Oral Glucose-Lowering Therapies and Associations with 1-Year HbA1c: a Retrospective Cohort Analysis in a Large Primary Care Database. Diabetes Care, 39(2), 258-263. Abstract. Author URL.
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Pitt A, Knight BA, Hudson M, Beall L, Hattersley AT, Jones AG, Frayling TM (2016). Evaluating the Exeter Glucose Potentiated Arginine Insulin Secretion (E-GPAIS) test for recruit by genotype studies. DIABETIC MEDICINE, 33, 29-29. Author URL.
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Paik H, Chen B, Sirota M, Hadley D, Butte AJ (2016). Integrating clinical phenotype and gene expression data to prioritize novel drug uses. CPT: Pharmacometrics and Systems Pharmacology, 5(11), 599-607. Abstract.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract. Author URL.
Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ (2016). Low IgE is a Useful Tool to Identify STAT3 Gain-of-Function Mutations. Clin Chem, 62(11), 1536-1538. Author URL.
Knight BA, Shields BM, Hattersley AT, Vaidya B (2016). Maternal hypothyroxinaemia in pregnancy is associated with obesity and adverse maternal metabolic parameters. EUROPEAN JOURNAL OF ENDOCRINOLOGY, 174(1), 51-57. Author URL.
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Besser REJ, Flanagan SE, Mackay DGJ, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT (2016). Prematurity and Genetic Testing for Neonatal Diabetes. Pediatrics, 138(3). Abstract. Author URL.
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Hope SV, Knight BA, Shields BM, Hattersley AT, McDonald TJ, Jones AG (2016). Random non-fasting C-peptide: bringing robust assessment of endogenous insulin secretion to the clinic. Diabet Med, 33(11), 1554-1558. Abstract. Author URL.
Qureshi SA, Burch N, Druce M, Hattersley JG, Khan S, Gopalakrishnan K, Darby C, Wong JLH, Davies L, Fletcher S, et al (2016). Screening for malnutrition in patients with gastro-entero-pancreatic neuroendocrine tumours: a cross-sectional study. BMJ Open, 6(5). Abstract. Author URL.
Jones AG, Lonergan M, Henley WE, Pearson ER, Hattersley AT, Shields BM (2016). Should Studies of Diabetes Treatment Stratification Correct for Baseline HbA1c?. PLoS One, 11(4). Abstract. Author URL.
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Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (2016). Specific psychiatric disorders can be identified using systematic assessment in patients with <i>KCNJ11</i> neonatal diabetes. DIABETIC MEDICINE, 33, 172-173. Author URL.
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Desai A, Connolly JJ, March M, Hou C, Chiavacci R, Kim C, Lyon G, Hadley D, Hakonarson H (2016). Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. BMC Musculoskeletal Disorders, 17(1). Abstract.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (2016). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract. Author URL.
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Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Abstract.
Oram RA, Hill A, Mcdonald TJ, Patel KA, Jones AG, Hattersley AT, Weedon MN (2015). 3. A Novel, Inexpensive Test can Discriminate between Type 1 and Type 2 Diabetes (1745-P). Nederlands Tijdschrift voor Diabetologie, 13(3), 57-57.
Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, et al (2015). A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. Diabetes, 64(11), 3951-3962. Abstract. Author URL.
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Clissold R, Shields B, Ellard S, Hattersley A, Bingham C (2015). Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. Nephron, 130(2), 134-140. Abstract. Author URL.
Yaghootkar H, Stancáková A, Freathy RM, Vangipurapu J, Weedon MN, Xie W, Wood AR, Ferrannini E, Mari A, Ring SM, et al (2015). Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion. Diabetes, 64(6), 2279-2285. Abstract. Author URL.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. European Journal of Human Genetics, 23(12), 1744-1748. Abstract.
Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12), 1744-1748. Abstract. Author URL.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12). Author URL.
Pers TH, Karjalainen JM, Chan Y, Westra H-J, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, et al (2015). Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun, 6 Abstract. Author URL.
Shields BM, Peters JL, Cooper C, Lowe J, Knight BA, Powell RJ, Jones A, Hyde CJ, Hattersley AT (2015). Can clinical features be used to differentiate type 1 from type 2 diabetes? a systematic review of the literature. BMJ Open, 5(11). Abstract. Author URL.
Demirbilek H, Arya VB, Ozbek MN, Houghton JAL, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, et al (2015). Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol, 172(6), 697-705. Abstract. Author URL.
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Hadley D, Hagopian W, Liu E, She JX, Simell O, Akolkar B, Ziegler AG, Rewers M, Krischer JP, Chen WM, et al (2015). HLA-DPB1∗04:01 protects genetically susceptible children from celiac disease autoimmunity in the TEDDY study. American Journal of Gastroenterology, 110(6), 915-920. Abstract.
Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C (2015). HNF1B-associated renal and extra-renal disease - an expanding clinical spectrum. Nature Reviews Nephrology, 11(2), 102-112. Abstract.
Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert M-F, Raghavan S, Lipovich L, et al (2015). Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun, 6 Abstract. Author URL.
Knight BA, Shields BM, Brook A, Hill A, Bhat DS, Hattersley AT, Yajnik CS (2015). Lower Circulating B12 is Associated with Higher Obesity and Insulin Resistance during Pregnancy in a Non-Diabetic White British Population. PLoS One, 10(8). Abstract. Author URL.
Roth R, Lynch K, Lernmark B, Baxter J, Simell T, Smith L, Swartling U, Ziegler AG, Johnson SB, Rewers M, et al (2015). Maternal anxiety about a child's diabetes risk in the TEDDY study: the potential role of life stress, postpartum depression, and risk perception. Pediatric Diabetes, 16(4), 287-298. Abstract.
Oram RA, McDonald TJ, Shields BM, Hudson MM, Shepherd MH, Hammersley S, Pearson ER, Hattersley AT, UNITED Team (2015). Most people with long-duration type 1 diabetes in a large population-based study are insulin microsecretors. Diabetes Care, 38(2), 323-328. Abstract. Author URL.
Abraham M, Loh R, Cole C, Townshend S, Houghton J, Hattersley A, Davis E (2015). Neonatal diabetes as an isolated manifestation of ipex: an expanding spectrum of disease phenotype with FOXP3 mutation. International Journal of Pediatric Endocrinology, 2015(S1).
Shungin D, Winkler TW, Croteau-Chonka DC, Ferreira T, Locke AE, Mägi R, Strawbridge RJ, Pers TH, Fischer K, Justice AE, et al (2015). New genetic loci link adipose and insulin biology to body fat distribution. Nature, 518(7538), 187-196. Abstract. Author URL.
Taylor EL, Armstrong KR, Perrett D, Hattersley AT, Winyard PG (2015). Optimisation of an advanced oxidation protein products assay: its application to studies of oxidative stress in diabetes mellitus. Oxidative Medicine and Cellular Longevity, 2015 Abstract.
Barrow B, Ellard S, Shepherd M, McCarthy M, Hattersley A, Gloyn A (2015). Patient recruitment strategy for family studies investigating novel genetic causes of maturity‐onset diabetes of the young. International Diabetes Nursing, 2(1), 24-29.
Chakera AJ, Steele AM, Gloyn AL, Shepherd MH, Shields B, Ellard S, Hattersley AT (2015). Recognition and Management of Individuals with Hyperglycemia Because of a Heterozygous Glucokinase Mutation. Diabetes Care, 38(7), 1383-1392. Abstract. Author URL.
Chen B, Greenside P, Paik H, Sirota M, Hadley D, Butte AJ (2015). Relating Chemical Structure to Cellular Response: an Integrative Analysis of Gene Expression, Bioactivity, and Structural Data Across 11,000 Compounds. CPT: Pharmacometrics and Systems Pharmacology, 4(10), 576-584. Abstract.
Chen B, Sirota M, Fan-Minogue H, Hadley D, Butte AJ (2015). Relating hepatocellular carcinoma tumor samples and cell lines using gene expression data in translational research. BMC Medical Genomics, 8(2). Abstract.
Törn C, Hadley D, Lee HS, Hagopian W, Lernmark Å, Simell O, Rewers M, Ziegler A, Schatz D, Akolkar B, et al (2015). Role of type 1 diabetes- Associated snps on risk of autoantibody positivity in the TEDDY study. Diabetes, 64(5), 1818-1829. Abstract.
Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, et al (2015). The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: a Large-Scale Genome-Wide Interaction Study. PLOS Genetics, 11(10), e1005378-e1005378.
De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 386(9997), 957-963. Abstract. Author URL.
O'Connell SM, Proks P, Kramer H, Mattis KK, Sachse G, Joyce C, Houghton JAL, Ellard S, Hattersley AT, Ashcroft FM, et al (2015). The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation. Clin Case Rep, 3(10), 884-887. Abstract. Author URL.
Hattersley AT, Thorens B (2015). Type 2 Diabetes, SGLT2 Inhibitors, and Glucose Secretion. New England Journal of Medicine, 373(10), 974-976.
Babiker T, Chakera AJ, Shepherd M, Hattersley AT (2014). A diagnostic approach for defining idiopathic remitting diabetes: a retrospective cohort study. BMC Endocrine Disorders, 14 Abstract.
Babiker T, Chakera AJ, Shepherd M, Hattersley AT (2014). A diagnostic approach for defining idiopathic remitting diabetes: a retrospective cohort study. BMC Endocr Disord, 14 Abstract. Author URL.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract. Author URL.
Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, Wallis S, et al (2014). Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man. Cell Metabolism
Stride A, Shields B, Gill-Carey O, Chakera AJ, Colclough K, Ellard S, Hattersley AT (2014). Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia, 57(1), 54-56. Abstract. Author URL.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, et al (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics, 46(11), 1173-1186. Abstract.
Wood AR, Esko T, Yang J, Vedantam S, Pers TH, Gustafsson S, Chu AY, Estrada K, Luan J, Kutalik Z, et al (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nat Genet, 46(11), 1173-1186. Abstract. Author URL.
Koivula RW, Heggie A, Barnett A, Cederberg H, Hansen TH, Koopman AD, Ridderstråle M, Rutters F, Vestergaard H, Gupta R, et al (2014). Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: Rationale and design of the epidemiological studies within the IMI DIRECT Consortium. Diabetologia, 57(6), 1132-1142. Abstract.
Koivula RW, Heggie A, Barnett A, Cederberg H, Hansen TH, Koopman AD, Ridderstråle M, Rutters F, Vestergaard H, Gupta R, et al (2014). Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: rationale and design of the epidemiological studies within the IMI DIRECT Consortium. Diabetologia
Jones AG, McDonald TJ, Hattersley AT, Shields BM (2014). Effect of the holiday season in patients with diabetes: Glycemia and lipids increase postholiday, but the effect is small and transient. Diabetes Care, 37(5).
Oram RA, Jones AG, Besser RE, Knight BA, Shields BM, Brown RJ, Hattersley AT, McDonald TJ (2014). Erratum to: the majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells. Diabetologia, 57(1). Author URL.
Chen G-B, Lee SH, Brion M-JA, Montgomery GW, Wray NR, Radford-Smith GL, Visscher PM, International IBD Genetics Consortium (2014). Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data. Hum Mol Genet, 23(17), 4710-4720. Abstract. Author URL.
Tillin T, Hughes AD, Whincup P, Mayet J, Sattar N, McKeigue PM, Chaturvedi N, SABRE Study Group (2014). Ethnicity and prediction of cardiovascular disease: performance of QRISK2 and Framingham scores in a U.K. tri-ethnic prospective cohort study (SABRE--Southall and Brent REvisited). Heart, 100(1), 60-67. Abstract. Author URL.
Myngheer N, Allegaert K, Hattersley A, McDonald T, Kramer H, Ashcroft FM, Verhaeghe J, Mathieu C, Casteels K (2014). Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes. Diabetes Care, 37(12), 3333-3335. Abstract. Author URL.
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Hara K, Fujita H, Johnson TA, Yamauchi T, Yasuda K, Horikoshi M, Peng C, Hu C, Ma RCW, Imamura M, et al (2014). Genome-wide association study identifies three novel loci for type 2 diabetes. Hum Mol Genet, 23(1), 239-246. Abstract. Author URL.
Cousminer DL, Stergiakouli E, Berry DJ, Ang W, Groen-Blokhuis MM, Körner A, Siitonen N, Ntalla I, Marinelli M, Perry JRB, et al (2014). Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. Human Molecular Genetics, 23(16), 4452-4464. Abstract.
Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MCY, Prokopenko I, et al (2014). Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NATURE GENETICS, 46(3), 234-+. Author URL.
Oram RA, Brooks AM, Forbes S, Eckoldt S, Smith RM, Choudhary P, Rosenthal MJ, Johnson P, Rutter MK, Burling KA, et al (2014). Home urine C-peptide creatinine ratio can be used to monitor islet transplant function. Diabetes Care, 37(6), 1737-1740. Abstract. Author URL.
Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R, Roef GL, Plantinga TS, Vermeulen SH, et al (2014). Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genet, 10(2). Abstract. Author URL.
Matsunami N, Hensel CH, Baird L, Stevens J, Otterud B, Leppert T, Varvil T, Hadley D, Glessner JT, Pellegrino R, et al (2014). Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. Molecular Autism, 5(1). Abstract.
Jones AG, Shields BM, Hyde CJ, Henley WE, Hattersley AT (2014). Identifying good responders to glucose lowering therapy in type 2 diabetes: implications for stratified medicine. PLoS One, 9(10). Abstract. Author URL.
Hadley D, Cheung RK, Becker DJ, Girgis R, Palmer JP, Cuthbertson D, Krischer JP, Dosch HM (2014). Large-scale prospective T cell function assays in shipped, unfrozen blood samples: Experiences from the multicenter TRIGR trial. Clinical and Vaccine Immunology, 21(2), 203-211. Abstract.
Claussnitzer M, Dankel SN, Klocke B, Grallert H, Glunk V, Berulava T, Lee H, Oskolkov N, Fadista J, Ehlers K, et al (2014). Leveraging cross-species transcription factor binding site patterns: from diabetes risk loci to disease mechanisms. Cell, 156(1-2), 343-358. Abstract. Author URL.
Hattersley AT, Marcovecchio ML, Chiarelli F, Silverstein J, Heller S, Damm P, Mathiesen ER, Zinman B, Sinclair A (2014). Lifecourse: management of type 1 diabetes. LANCET DIABETES & ENDOCRINOLOGY, 2(3), 194-195. Author URL.
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Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia
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Bee YM, Zhao Y, Ellard S, Hattersley AT, Yap F (2014). Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism. Pediatric Diabetes, 15(4), 324-328. Abstract.
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McDonald TJ, Perry MH, Peake RWA, Pullan NJ, O'Connor J, Shields BM, Knight BA, Hattersley AT (2012). EDTA improves stability of whole blood C-peptide and insulin to over 24 hours at room temperature. PLoS One, 7(7). Abstract. Author URL.
Lucas R, Fraga S, Ramos E, Barros H (2012). Early Initiation of Smoking and Alcohol Drinking as a Predictor of Lower Forearm Bone Mineral Density in Late Adolescence: a Cohort Study in Girls. PLOS ONE, 7(10). Author URL.
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Rachmiel M, Rubio-Cabezas O, Ellard S, Hattersley AT, Perlman K (2012). Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. Pediatric Diabetes, 13(6). Abstract.
Rachmiel M, Rubio-Cabezas O, Ellard S, Hattersley AT, Perlman K (2012). Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. Pediatr Diabetes, 13(6), e26-e29. Abstract. Author URL.
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Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S (2012). Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia, 55(1), 123-127. Abstract. Author URL.
Eyre S, Bowes J, Diogo D, Lee A, Barton A, Martin P, Zhernakova A, Stahl E, Viatte S, McAllister K, et al (2012). High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. Nat Genet, 44(12), 1336-1340. Abstract. Author URL.
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Murphy R, Ibáñez L, Hattersley A, Tost J (2012). IGF2/H19 hypomethylation in a patient with very low birthweight, preocious pubarche and insulin resistance. BMC Medical Genetics, 13 Abstract.
Shields BM, Peters JL, Cooper C, Powell RJ, Knight BA, Hyde C, Hattersley AT (2012). Identifying clinical criteria to predict Type 1 diabetes, as defined by absolute insulin deficiency: a systematic review protocol. BMJ Open, 2(6). Abstract. Author URL.
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Habeb AM, Al-Magamsi MSF, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S (2012). Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatric Diabetes, 13(6), 499-505. Abstract.
Habeb AM, Al-Magamsi MSF, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S (2012). Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes, 13(6), 499-505. Abstract. Author URL.
Delorme A, Palmer J, Onton J, Oostenveld R, Makeig S (2012). Independent EEG Sources Are Dipolar. PLOS ONE, 7(2). Author URL.
Thong KY, Ryder REJ, Cull ML, Walton C, ABCD Nationwide Exenatide and Liraglutide Audit Contributors (2012). Insulin avoidance and treatment outcomes among patients with a professional driving licence starting glucagon-like peptide 1 (GLP-1) agonists in the Association of British Clinical Diabetologists (ABCD) nationwide exenatide and liraglutide audits. Diabet Med, 29(5), 690-692. Author URL.
Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S (2012). K<inf>ATP</inf> channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatric Diabetes, 13(4), 322-325. Abstract.
Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S (2012). KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatr Diabetes, 13(4), 322-325. Abstract. Author URL.
Morris AP, Voight BF, Teslovich TM, Ferreira T, Segrè AV, Steinthorsdottir V, Strawbridge RJ, Khan H, Grallert H, Mahajan A, et al (2012). Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nature Genetics, 44(9), 981-990. Abstract.
McDonald TJ, McEneny J, Pearson ER, Thanabalasingham G, Szopa M, Shields BM, Ellard S, Owen KR, Malecki MT, Hattersley AT, et al (2012). Lipoprotein composition in HNF1A-MODY: Differentiating between HNF1A-MODY and Type 2 diabetes. Clinica Chimica Acta, 413(9-10), 927-932. Abstract.
McDonald TJ, McEneny J, Pearson ER, Thanabalasingham G, Szopa M, Shields BM, Ellard S, Owen KR, Malecki MT, Hattersley AT, et al (2012). Lipoprotein composition in HNF1A-MODY: differentiating between HNF1A-MODY and type 2 diabetes. Clin Chim Acta, 413(9-10), 927-932. Abstract. Author URL.
Marquez M, Huyvaert M, Perry JRB, Pearson RD, Falchi M, Morris AP, Vivequin S, Lobbens S, Yengo L, Gaget S, et al (2012). Low-Frequency Variants in <i>HMGA1</i> Are Not Associated with Type 2 Diabetes Risk. DIABETES, 61(2), 524-530. Author URL.
Cho YS, Chen C-H, Hu C, Long J, Ong RTH, Sim X, Takeuchi F, Wu Y, Go MJ, Yamauchi T, et al (2012). Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. NATURE GENETICS, 44(1), 67-U97. Author URL.
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, et al (2012). New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics
Dastani Z, Hivert MF, Timpson NJ, Yuan X, Lyytikäinen LP, Tanaka T, Morris AP, Isaacs A, Lohman K, Qi L, et al (2012). Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genetics, 8(3). Abstract.
Palmer CNA, Maglio C, Pirazzi C, Burza MA, Adiels M, Burch L, Donnelly LA, Colhoun H, Doney AS, Dillon JF, et al (2012). Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant. PLoS ONE, 7(6). Abstract.
Shankar RK, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, et al (2012). Permanent neonatal diabetes mellitus: Prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. Pediatric Diabetes
Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AAL, Mutair A, Hattersley AT, Hussain K, Ellard S, et al (2012). Permanent neonatal diabetes: Different aetiology in Arabs compared to Europeans. Archives of Disease in Childhood, 97(8), 721-723. Abstract.
Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC, Bhaw-Rosun L, Bockett NA, et al (2012). Rare and functional <i>SIAE</i> variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry. NATURE GENETICS, 44(1), 3-5. Author URL.
Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, et al (2012). Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13(4), 314-321. Abstract.
Sansbury FH, Flanagan SE, Houghton JAL, Shuixian Shen FL, Al-Senani AMS, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT, et al (2012). SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia, 55(9), 2381-2385. Abstract.
Sansbury FH, Flanagan SE, Houghton JAL, Shuixian Shen FL, Al-Senani AMS, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT, et al (2012). SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia, 55(9), 2381-2385. Abstract. Author URL.
Scheele C, Nielsen S, Kelly M, Broholm C, Nielsen AR, Taudorf S, Pedersen M, Fischer CP, Pedersen BK (2012). Satellite Cells Derived from Obese Humans with Type 2 Diabetes and Differentiated into Myocytes in Vitro Exhibit Abnormal Response to IL-6. PLOS ONE, 7(6). Author URL.
Cooper JD, Simmonds MJ, Walker NM, Burren O, Brand OJ, Guo H, Wallace C, Stevens H, Coleman G, Wellcome Trust Case Control Consortium, et al (2012). Seven newly identified loci for autoimmune thyroid disease. Hum Mol Genet, 21(23), 5202-5208. Abstract. Author URL.
Hack K, Reilly L, Palmer C, Read KD, Norval S, Kime R, Booth K, Foerster J (2012). Skin-Targeted Inhibition of PPAR β/δ by Selective Antagonists to Treat PPAR β/δ - Mediated Psoriasis-Like Skin Disease <i>In Vivo</i>. PLOS ONE, 7(5). Author URL.
Tillin T, Forouhi NG, McKeigue PM, Chaturvedi N, Beauchamp N, Coady E, Collins R, Gedroyc W, Godsland I, Hattersley A, et al (2012). Southall and Brent REvisited: Cohort profile of SABRE, a UK population-based comparison of cardiovascular disease and diabetes in people of European, Indian Asian and African Caribbean origins. International Journal of Epidemiology, 41(1), 33-42.
Perry JRB, Voight BF, Yengo L, Amin N, Dupuis J, Ganser M, Grallert H, Navarro P, Li M, Qi L, et al (2012). Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. PLoS Genet, 8(5). Abstract. Author URL.
Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT (2012). The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia, 55(5), 1265-1272. Abstract. Author URL.
Thomas NJ, Shields BM, Besser REJ, Jones AG, Rawlingson A, Goodchild E, Leighton C, Bowman P, Shepherd M, Knight BA, et al (2012). The impact of gender on urine C-peptide creatinine ratio interpretation. Ann Clin Biochem, 49(Pt 4), 363-368. Abstract. Author URL.
Besser REJ, Jones AG, McDonald TJ, Shields BM, Knight BA, Hattersley AT (2012). The impact of insulin administration during the mixed meal tolerance test. Diabet Med, 29(10), 1279-1284. Abstract. Author URL.
Urbanek M, Hayes MG, Lee H, Freathy RM, Lowe LP, Ackerman C, Jafari N, Dyer AR, Cox NJ, Dunger DB, et al (2012). The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. PLoS ONE, 7(3). Abstract.
Finn RP, Flanagan SE, Chakera AJ, Hattersley AT (2012). The treatment of permanent neonatal diabetes secondary to Kir6.2 mutations with sulphonylureas: 5 year follow-up study. DIABETOLOGIA, 55, S28-S28. Author URL.
Besser REJ, Jones J, McDonald TJ, Smith R, Shepherd MH, Hattersley AT (2012). Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes. BMJ Case Reports Abstract.
Besser REJ, Jones J, McDonald TJ, Smith R, Shepherd MH, Hattersley AT (2012). Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes. BMJ case reports, 2012 Abstract.
Bowman P, McDonald TJ, Shields BM, Knight BA, Hattersley AT (2012). Validation of a single-sample urinary C-peptide creatinine ratio as a reproducible alternative to serum C-peptide in patients with Type 2 diabetes. Diabet Med, 29(1), 90-93. Abstract. Author URL.
Männikkö R, Stansfeld PJ, Ashcroft AS, Hattersley AT, Sansom MSP, Ellard S, Ashcroft FM (2011). A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated. Journal of Physiology, 589(13), 3071-3083. Abstract.
Shepherd M, Cropper J, Flanagan S, Ellard S, Hattersley A (2011). A diagnosis of monogenic neonatal diabetes can improve treatment and glycaemic control. Journal of Diabetes Nursing, 15(1).
Taylor PN, Panicker V, Sayers A, Shields B, Iqbal A, Bremner AP, Beilby JP, Leedman PJ, Hattersley AT, Vaidya B, et al (2011). A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement. Eur J Endocrinol, 164(5), 773-780. Abstract. Author URL.
Shahawy S, Chan NK, Ellard S, Young E, Shahawy H, MacE J, Peverini R, Chinnock R, Njolstad PR, Hattersley AT, et al (2011). A pathway to insulin independence in newborns and infants with diabetes. Journal of Perinatology, 31(8), 567-570. Abstract.
Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, Stringham HM, Morris AP, Lauritzen T, Doney ASF, Morris AD, et al (2011). A role for coding functional variants in <i>HNF4A</i> in type 2 diabetes susceptibility. DIABETOLOGIA, 54(1), 111-119. Author URL.
Bown MJ, Jones GT, Harrison SC, Wright BJ, Bumpstead S, Baas AF, Gretarsdottir S, Badger SA, Bradley DT, Burnand K, et al (2011). Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. American Journal of Human Genetics, 89(5), 619-627. Abstract.
Donnelly LA, Doney ASF, Tavendale R, Lang CC, Pearson ER, Colhoun HM, McCarthy MI, Hattersley AT, Morris AD, Palmer CNA, et al (2011). Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with Type 2 diabetes: a Go-DARTS study. Clinical Pharmacology and Therapeutics, 89(2), 210-216. Abstract.
Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, et al (2011). Common variants at 10 genomic loci influence hemoglobin A<inf>1C</inf> levels via glycemic and nonglycemic pathways (Diabetes (2010) 59, (3229-3239)). Diabetes, 60(3).
GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group, Wellcome Trust Case Control Consortium 2, Zhou K, Bellenguez C, Spencer CCA, Bennett AJ, Coleman RL, Tavendale R, Hawley SA, Donnelly LA, et al (2011). Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet, 43(2), 117-120. Abstract. Author URL.
Shields BM, Knight BA, Hill A, Hattersley AT, Vaidya B (2011). Fetal thyroid hormone level at birth is associated with fetal growth. J Clin Endocrinol Metab, 96(6), E934-E938. Abstract. Author URL.
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract. Author URL.
Freathy RM, Kazeem GR, Morris RW, Johnson PCD, Paternoster L, Ebrahim S, Hattersley AT, Hill A, Hingorani AD, Holst C, et al (2011). Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index. Int J Epidemiol, 40(6), 1617-1628. Abstract. Author URL.
Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Gudnason V, Eiriksdottir G, Garcia ME, Launer LJ, et al (2011). Genome-Wide Association Analysis Identifies Variants Associated with Nonalcoholic Fatty Liver Disease That Have Distinct Effects on Metabolic Traits. PLoS Genetics, 7(3), e1001324-e1001324.
Strawbridge RJ, Dupuis J, Prokopenko I, Barker A, Ahlqvist E, Rybin D, Petrie JR, Travers ME, Bouatia-Naji N, Dimas AS, et al (2011). Genome-Wide Association Identifies Nine Common Variants Associated with Fasting Proinsulin Levels and Provides New Insights into the Pathophysiology of Type 2 Diabetes. DIABETES, 60(10), 2624-2634. Author URL.
Bell JT, Timpson NJ, Rayner NW, Zeggini E, Frayling TM, Hattersley AT, Morris AP, McCarthy MI (2011). Genome-wide association scan allowing for epistasis in type 2 diabetes. Ann Hum Genet, 75(1), 10-19. Abstract. Author URL.
Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, Van der Harst P, Holm H, Sanna S, Kavousi M, Baumeister SE, et al (2011). Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nature Genetics, 43(11), 1131-1138.
McDonald TJ, Shields BM, Lawry J, Owen KR, Gloyn AL, Ellard S, Hattersley AT (2011). High-sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care, 34(8), 1860-1862. Abstract. Author URL.
Reilly MP, Li M, He J, Ferguson JF, Stylianou IM, Mehta NN, Burnett MS, Devaney JM, Knouff CW, Thompson JR, et al (2011). Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. Lancet, 377(9763), 383-392. Abstract. Author URL.
Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin S-Y, Richards HB, Soranzo N, et al (2011). Identification of an imprinted master <i>trans</i> regulator at the <i>KLF14</i> locus related to multiple metabolic phenotypes. NATURE GENETICS, 43(6), 561-U90. Author URL.
McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, Williams A, Hattersley AT, Ellard S (2011). Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med, 28(9), 1028-1033. Abstract. Author URL.
Ioannou YS, Ellard S, Hattersley A, Skordis N (2011). KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. Pediatr Diabetes, 12(2), 133-137. Abstract. Author URL.
De Silva NMG, Freathy RM, Palmer TM, Donnelly LA, Luan J, Gaunt T, Langenberg C, Weedon MN, Shields B, Knight BA, et al (2011). Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. Diabetes, 60(3), 1008-1018. Abstract. Author URL.
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens MC, Speliotes EK, Maegi R, et al (2011). Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. NATURE GENETICS, 43(11), 1164-1164. Author URL.
Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM (2011). Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the K<inf>ATP</inf> channel can result in either hyperinsulinism or neonatal diabetes. Diabetes, 60(6), 1813-1822. Abstract.
Dimitri P, Warner JT, Minton JAL, Patch AM, Ellard S, Hattersley AT, Barr S, Hawkes D, Wales JK, Gregory JW, et al (2011). Novel GLIS3 mutations demonstrate an extended multisystem phenotype. Eur J Endocrinol, 164(3), 437-443. Abstract. Author URL.
Rubio-Cabezas O, Jensen JN, Hodgson MI, Codner E, Ellard S, Serup P, Hattersley AT (2011). Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated with Biallelic Mutations in NEUROG3. Diabetes, 60(4), 1349-1353. Abstract. Author URL.
Hameed S, Ellard S, Woodhead HJ, Neville KA, Walker JL, Craig ME, Armstrong T, Yu L, Eisenbarth GS, Hattersley AT, et al (2011). Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatric Diabetes, 12(3 PART 1), 142-149. Abstract.
Hameed S, Ellard S, Woodhead HJ, Neville KA, Walker JL, Craig ME, Armstrong T, Yu L, Eisenbarth GS, Hattersley AT, et al (2011). Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes, 12(3 Pt 1), 142-149. Abstract. Author URL.
Thompson V, Medard B, Taseera K, Chakera AJ, Andia I, Emenyonu N, Hunt PW, Martin J, Scherzer R, Weiser SD, et al (2011). Regional anthropometry changes in antiretroviral-naïve persons initiating a Zidovudine-containing regimen in Mbarara, Uganda. AIDS Res Hum Retroviruses, 27(7), 785-791. Abstract. Author URL.
McDonald TJ, Owen KR, Gloyn AL, Hattersley AT (2011). Response to comment on: McDonald et al. High-Sensitivity CRP discriminates HNF1A-MODY from other subtypes of diabetes. Diabetes Care 2011;34: 1860-1862. Diabetes Care, 34(12).
Habeb AM, George ET, Mathew V, Hattersley AL (2011). Response to oral gliclazide in a pre-pubertal child with hepatic nuclear factor-1 alpha maturity onset diabetes of the young. Annals of Saudi Medicine, 31(2), 190-193. Abstract.
Heideker J, Prudden J, Perry JJP, Tainer JA, Boddy MN (2011). SUMO-Targeted Ubiquitin Ligase, Rad60, and Nse2 SUMO Ligase Suppress Spontaneous Top1-Mediated DNA Damage and Genome Instability. PLOS GENETICS, 7(3). Author URL.
Thong KY, Jose B, Sukumar N, Cull ML, Mills AP, Sathyapalan T, Shafiq W, Rigby AS, Walton C, Ryder REJ, et al (2011). Safety, efficacy and tolerability of exenatide in combination with insulin in the Association of British Clinical Diabetologists nationwide exenatide audit. Diabetes Obes Metab, 13(8), 703-710. Abstract. Author URL.
Edghill EL, Khamis A, Weedon MN, Walker M, Hitman GA, McCarthy MI, Owen KR, Ellard S, T Hattersley A, Frayling TM, et al (2011). Sequencing PDX1 (insulin promoter factor 1) in 1788 UK individuals found 5% had a low frequency coding variant, but these variants are not associated with Type 2 diabetes. Diabet Med, 28(6), 681-684. Abstract. Author URL.
Zhu H, Shyh-Chang N, Segrè AV, Shinoda G, Shah SP, Einhorn WS, Takeuchi A, Engreitz JM, Hagan JP, Kharas MG, et al (2011). The Lin28/let-7 Axis Regulates Glucose Metabolism. Cell, 147(1), 81-94.
Steele AM, Tribble ND, Caswell R, Wensley KJ, Hattersley AT, Gloyn AL, Ellard S (2011). The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY. Diabetologia, 54(8), 2202-2205. Author URL.
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, et al (2011). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (vol 42, pg 579, 2010). NATURE GENETICS, 43(4), 388-388. Author URL.
Besser REJ, Shepherd MH, McDonald TJ, Shields BM, Knight BA, Ellard S, Hattersley AT (2011). Urinary C-peptide creatinine ratio is a practical outpatient tool for identifying hepatocyte nuclear factor 1-{alpha}/hepatocyte nuclear factor 4-{alpha} maturity-onset diabetes of the young from long-duration type 1 diabetes. Diabetes Care, 34(2), 286-291. Abstract. Author URL.
Besser REJ, Ludvigsson J, Jones AG, McDonald TJ, Shields BM, Knight BA, Hattersley AT (2011). Urine C-peptide creatinine ratio is a noninvasive alternative to the mixed-meal tolerance test in children and adults with type 1 diabetes. Diabetes Care, 34(3), 607-609. Abstract. Author URL.
Jones AG, Besser REJ, McDonald TJ, Shields BM, Hope SV, Bowman P, Oram RA, Knight BA, Hattersley AT (2011). Urine C-peptide creatinine ratio is an alternative to stimulated serum C-peptide measurement in late-onset, insulin-treated diabetes. Diabet Med, 28(9), 1034-1038. Abstract. Author URL.
De Lusignan S, Khunti K, Belsey J, Hattersley A, Van Vlymen J, Gallagher H, Millett C, Hague NJ, Tomson C, Harris K, et al (2010). A method of identifying and correcting miscoding, misclassification and misdiagnosis in diabetes: a pilot and validation study of routinely collected data. Diabetic Medicine, 27(2), 203-209. Abstract.
Hayes MG, Lee H, Freathy RM, Urbanek M, Lowe LP, Ackerman C, Cox NJ, Dunger DB, Dyer AR, Hattersley AT, et al (2010). A non-synonymous <i>HNF4A</i> variant is associated with glycemia during pregnancy and offspring head circumference in populations of European ancestry in the HAPO study. AMERICAN JOURNAL OF HUMAN BIOLOGY, 22(2), 256-257. Author URL.
Morris AP, Lindgren CM, Zeggini E, Timpson NJ, Frayling TM, Hattersley AT, McCarthy MI (2010). A powerful approach to sub-phenotype analysis in population-based genetic association studies. Genetic Epidemiology, 34(4), 335-343. Abstract.
Hadley D, Orlin A, Brown G, Brucker AJ, Ho AC, Regillo CD, Donoso LA, Tian L, Kaderli B, Stambolian D, et al (2010). Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26. Investigative Ophthalmology and Visual Science, 51(4), 2191-2196. Abstract.
Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Mägi R, et al (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics, 42(11), 937-948. Abstract.
Treweek S, Pearson E, Smith N, Neville R, Sargeant P, Boswell B, Sullivan F (2010). Desktop software to identify patients eligible for recruitment into a clinical trial: Using SARMA to recruit to the ROAD feasibility trial. Informatics in Primary Care, 18(1), 51-58. Abstract.
Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G, Rolandsson O, Daly A, Wasson J, Permutt A, Hattersley AT, et al (2010). Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes, 59(3), 741-746. Abstract.
Shepherd M, Miles S, Jones J, Morel K, Ellard S, Hattersley A (2010). Differential diagnosis: Identifying people with monogenic diabetes. Journal of Diabetes Nursing, 14(9), 342-347. Abstract.
Grulich-Henn J, Wagner V, Thon A, Schober E, Marg W, Kapellen TM, Haberland H, Raile K, Ellard S, Flanagan SE, et al (2010). Entities and frequency of neonatal diabetes: Data from the diabetes documentation and quality management system (DPV). Diabetic Medicine, 27(6), 709-712. Abstract.
Philipson LH, Murphy R, Ellard S, Hattersley AT, Støy J, Greeley SA, Bell GI, Polonsky KS (2010). Genetic Testing in Diabetes Mellitus: a Clinical Guide to Monogenic Diabetes. , 17-25. Abstract.
Reiling E, Jafar-Mohammadi B, Van 'T Riet E, Weedon MN, Van Vliet-Ostaptchouk JV, Hansen T, Saxena R, Van Haeften TW, Arp PA, Das S, et al (2010). Genetic association analysis of LARS2 with type 2 diabetes. Diabetologia, 53(1), 103-110. Abstract.
Perry JRB, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, et al (2010). Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet, 19(3), 535-544. Abstract. Author URL.
Shields BM, Freathy RM, Hattersley AT (2010). Genetic influences on the association between fetal growth and susceptibility to type 2 diabetes. JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE, 1(2), 96-105. Author URL.
Chen W, Stambolian D, Edwards AO, Branham KE, Othman M, Jakobsdottir J, Tosakulwong N, Pericak-Vance MA, Campochiaro PA, Klein ML, et al (2010). Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proceedings of the National Academy of Sciences of the United States of America, 107(16), 7401-7406. Abstract.
Saxena R, Hivert MF, Langenberg C, Tanaka T, Pankow JS, Vollenweider P, Lyssenko V, Bouatia-Naji N, Dupuis J, Jackson AU, et al (2010). Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nature Genetics, 42(2), 142-148. Abstract.
Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, et al (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-720. Abstract.
Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, et al (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-720. Abstract. Author URL.
Rubio-Cabezas O, Minton JAL, Kantor I, Williams D, Ellard S, Hattersley AT (2010). Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes, 59(9), 2326-2331. Abstract. Author URL.
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, et al (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467(7317), 832-838. Abstract. Author URL.
Freathy RM, Hayes MG, Urbanek M, Lowe LP, Lee H, Ackerman C, Frayling TM, Cox NJ, Dunger DB, Dyer AR, et al (2010). Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study: Common Genetic Variants in <i>GCK</i> and <i>TCF7L2</i> Are Associated with Fasting and Postchallenge Glucose Levels in Pregnancy and with the New Consensus Definition of Gestational Diabetes Mellitus from the International Association of Diabetes and Pregnancy Study Groups. DIABETES, 59(10), 2682-2689. Author URL.
Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl L-B, Hattersley AT, et al (2010). Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes, 11(1), 18-23. Abstract. Author URL.
Stone MA, Camosso-Stefinovic J, Wilkinson J, de Lusignan S, Hattersley AT, Khunti K (2010). Incorrect and incomplete coding and classification of diabetes: a systematic review. DIABETIC MEDICINE, 27(5), 491-497. Author URL.
Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER (2010). Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med, 27(2), 157-161. Abstract. Author URL.
Bell CG, Finer S, Lindgren CM, Wilson GA, Rakyan VK, Teschendorff AE, Akan P, Stupka E, Down TA, Prokopenko I, et al (2010). Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus. PLoS ONE, 5(11). Abstract.
Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM (2010). Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. Human Molecular Genetics, 19(6), 963-972. Abstract.
Nettleton JA, McKeown NM, Kanoni S, Lemaitre RN, Hivert M-F, Ngwa J, van Rooij FJA, Sonestedt E, Wojczynski MK, Ye Z, et al (2010). Interactions of Dietary Whole-Grain Intake with Fasting Glucose- and Insulin-Related Genetic Loci in Individuals of European Descent a meta-analysis of 14 cohort studies. DIABETES CARE, 33(12), 2684-2691. Author URL.
Nettleton JA, McKeown NM, Kanoni S, Lemaitre RN, Hivert M-F, Ngwa J, van Rooij FJA, Sonestedt E, Wojczynski MK, Ye Z, et al (2010). Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies. Diabetes Care, 33(12), 2684-2691. Abstract. Author URL.
Khadilkar VV, Khadilkar AV, Kapoor RR, Hussain K, Hattersley AT, Ellard S (2010). KCNJ11 activating mutation in an indian family with remitting and relapsing diabetes. Indian Journal of Pediatrics, 77(5), 551-554. Abstract.
Zhou K, Donnelly L, Burch L, Tavendale R, Doney ASF, Leese G, Hattersley AT, McCarthy MI, Morris AD, Lang CC, et al (2010). Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a go-DARTS study. Clinical Pharmacology and Therapeutics, 87(1), 52-56. Abstract.
Ille J, Putarek NR, Radica A, Hattersley A, Ellard S, Dumić M (2010). Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding KIR6.2. Lijecnicki Vjesnik, 132(3-4), 90-93. Abstract.
Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S (2010). Maturity-onset diabetes of the young (MODY): how many cases are we missing?. Diabetologia, 53(12), 2504-2508. Abstract. Author URL.
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Ssteinthorsdottir V, Tthorleifsson G, Zillikens C, Sspeliotes EK, Mägi R, et al (2010). Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nature Genetics, 42(11), 949-960. Abstract.
Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, et al (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum Genet, 127(1), 55-64. Abstract. Author URL.
Oram RA, Edghill EL, Blackman J, Taylor MJO, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, et al (2010). Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol, 203(4), 364.e1-364.e5. Abstract. Author URL.
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, et al (2010). New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk (vol 42, pg 105, 2010). NATURE GENETICS, 42(5), 464-464. Author URL.
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, et al (2010). New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet, 42(2), 105-116. Abstract. Author URL.
Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, et al (2010). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes, 59(1), 266-271. Abstract. Author URL.
Grozeva D, Kirov G, Ivanov D, Jones IR, Jones L, Green EK, St Clair DM, Young AH, Ferrier N, Farmer AE, et al (2010). Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry, 67(4), 318-327. Abstract. Author URL.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, et al (2010). Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America, 107(7), 3105-3110. Abstract.
Jones AG, Hattersley AT (2010). Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age. Nat Rev Endocrinol, 6(6), 347-351. Abstract. Author URL.
Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, et al (2010). Rfx6 directs islet formation and insulin production in mice and humans. Nature, 463(7282), 775-780. Abstract.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2010). Role of low frequency variants in <i>HNF1A</i> exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform a to susceptibility to Type 2 diabetes. IRISH JOURNAL OF MEDICAL SCIENCE, 179, 538-538. Author URL.
Edghill EL, Minton JAL, Groves CJ, Flanagan SE, Patch A-M, Rubio-Cabezas O, Shepherd M, Lenzen S, McCarthy MI, Ellard S, et al (2010). Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP, 11(1), 14-17. Abstract. Author URL.
Elmalti A, Hattersley A, Mandour O (2010). Transient neonatal diabetes re-presenting with type 2 diabetes at 12 years: Responds well to sulphonylureas. Practical Diabetes International, 27(1).
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, et al (2010). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics, 42(7), 579-589. Abstract.
Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, et al (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet, 42(5), 430-435. Abstract. Author URL.
Rubio-Cabezas O, Patch AM, Minton JAL, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, et al (2010). Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families (J Clin Endocrinol Metab 94 (4162-4170)). Journal of Clinical Endocrinology and Metabolism, 95(3).
Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT (2009). A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet, 18(15), 2922-2927. Abstract. Author URL.
Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT (2009). A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med, 26(4), 437-441. Abstract. Author URL.
Timpson NJ, Lindgren CM, Weedon MN, Randall J, Ouwehand WH, Strachan DP, Rayner NW, Walker M, Hitman GA, Doney ASF, et al (2009). Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes, 58(2), 505-510. Abstract. Author URL.
Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CAJ, Petz O, Mannikko R, Kapoor RR, Hussain K, et al (2009). Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med(1), 166-177.
Dehghan A, Yang Q, Peters A, Basu S, Bis JC, Rudnicka AR, Kavousi M, Chen M-H, Baumert J, Lowe GDO, et al (2009). Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. Circ Cardiovasc Genet, 2(2), 125-133. Abstract. Author URL.
Shields B, Hill A, Bilous M, Knight B, Hattersley AT, Bilous RW, Vaidya B (2009). Cigarette smoking during pregnancy is associated with alterations in maternal and fetal thyroid function. J Clin Endocrinol Metab, 94(2), 570-574. Abstract. Author URL.
Perry JRB, Ferrucci L, Bandinelli S, Guralnik J, Semba RD, Rice N, Melzer D, DIAGRAM Consortium, Saxena R, Scott LJ, et al (2009). Circulating beta-carotene levels and type 2 diabetes-cause or effect?. Diabetologia, 52(10), 2117-2121. Abstract. Author URL.
Rubio-Cabezas O, Minton JAL, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, et al (2009). Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care, 32(1), 111-116. Abstract. Author URL.
Orozco G, Hinks A, Eyre S, Ke X, Gibbons LJ, Bowes J, Flynn E, Martin P, Wellcome Trust Case Control Consortium, YEAR consortium, et al (2009). Combined effects of three independent SNPs greatly increase the risk estimate for RA at 6q23. Hum Mol Genet, 18(14), 2693-2699. Abstract. Author URL.
Panicker V, Saravanan P, Vaidya B, Evans J, Hattersley AT, Frayling TM, Dayan CM (2009). Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. J Clin Endocrinol Metab, 94(5), 1623-1629. Abstract. Author URL.
Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, et al (2009). Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution. PLoS Genetics, 5(7).
Craig ME, Hattersley A, Donaghue KC (2009). Definition, epidemiology and classification of diabetes in children and adolescents. Pediatric Diabetes, 10(SUPPL. 12), 3-12.
Johnson L, van Jaarsveld CHM, Emmett PM, Rogers IS, Ness AR, Hattersley AT, Timpson NJ, Smith GD, Jebb SA (2009). Dietary energy density affects fat mass in early adolescence and is not modified by FTO variants. PLoS One, 4(3). Abstract. Author URL.
Yajnik CS, Janipalli CS, Bhaskar S, Kulkarni SR, Freathy RM, Prakash S, Mani KR, Weedon MN, Kale SD, Deshpande J, et al (2009). FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians. Diabetologia, 52(2), 247-252. Abstract. Author URL.
Hennig BJ, Fulford AJ, Sirugo G, Rayco-Solon P, Hattersley AT, Frayling TM, Prentice AM (2009). FTO gene variation and measures of body mass in an African population. BMC Med Genet, 10 Abstract. Author URL.
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, et al (2009). Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genetics, 5(6). Abstract.
Jallow M, Teo YY, Small KS, Rockett KA, Deloukas P, Clark TG, Kivinen K, Bojang KA, Conway DJ, Pinder M, et al (2009). Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet, 41(6), 657-665. Abstract. Author URL.
Jose B, Griffiths U, Barrett T, Hattersley AT, Milles JJ (2009). Glibenclamide controls ketosis-prone diabetes in a 38-year-old woman with Kir6.2 mutation. Practical Diabetes International, 26(6), 244-245i. Abstract.
Murphy R, Tura A, Clark PM, Holst JJ, Mari A, Hattersley AT (2009). Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor. Diabetologia, 52(1), 154-159. Abstract. Author URL.
Abdul-Rahman OA, Edghill EL, Kwan A, Enns GM, Hattersley AT (2009). Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta. J Pediatr Hematol Oncol, 31(7), 527-529. Abstract. Author URL.
Raile K, Galler A, O'Conell M, Werther G, Mohnike W, Kuehnen P, Hattersley A, Krude H, Blankenstein O (2009). Insulin gene (INS) deletion causes neonatal and adult-onset diabetes. HORMONE RESEARCH, 72, 300-300. Author URL.
Perry JRB, McCarthy MI, Hattersley AT, Zeggini E, Wellcome Trust Case Control Consortium, Weedon MN, Frayling TM (2009). Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes, 58(6), 1463-1467. Abstract. Author URL.
Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, et al (2009). Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes, 58(7), 1704-1709. Abstract. Author URL.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2009). Low Frequency Variants in the Exons Only Encoding Isoform a of <i>HNF1A</i> Do Not Contribute to Susceptibility to Type 2 Diabetes. PLOS ONE, 4(8). Author URL.
Hameed S, Verge CF, Ellard S, Woodhead H, Neville K, Walker JL, Craig M, Eisenbarth G, Armstrong T, Yu L, et al (2009). Monogenic diabetes in children initially diagnosed with type 1 diabetes: a role for autoantibody testing. HORMONE RESEARCH, 72, 215-215. Author URL.
Klupa T, Kowalska I, Wyka K, Skupien J, Patch A-M, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, et al (2009). Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype. Clin Endocrinol (Oxf), 71(3), 358-362. Abstract. Author URL.
Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RCM, Buckley MF, et al (2009). Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. JOP, 10(4), 457-458. Author URL.
Edghill EL, McCulloch L, Fulton P, Beer N, Hattersley AT, Gloyn AL (2009). Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction. Diabet Med, 26(1), 113-114. Author URL.
Conn JJ, Simm PJ, Oats JJN, Nankervis AJ, Jacobs SE, Ellard S, Hattersley AT (2009). Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. Australian and New Zealand Journal of Obstetrics and Gynaecology, 49(3), 328-330. Abstract.
Rubio-Cabezas O, Codner E, Jensen JN, Hodgson MI, Serup P, Ellard S, Hattersley AT (2009). Neurogenin 3 deficiency is a novel cause of permanent neonatal diabetes and severe congenital diarrhea. HORMONE RESEARCH, 72, 61-62. Author URL.
Dimitri P, Warner JT, Minton JAL, Ellard S, Hattersley AT, Barr SM, Hawkes DJ, Wales JK, Gregory JW (2009). Novel <i>GLIS3</i> mutations in two patients with resistant hypothyroidism, neonatal diabetes, hepatitis, renal cystic dysplasia, osteopenia and pancreatic exocrine dysfunction. HORMONE RESEARCH, 72, 35-35. Author URL.
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, et al (2009). Parental origin of sequence variants associated with complex diseases. Nature, 462(7275), 868-874. Abstract.
Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B (2009). Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. J Clin Endocrinol Metab, 94(11), 4608-4612. Abstract. Author URL.
Spyer G, Macleod KM, Shepherd M, Ellard S, Hattersley AT (2009). Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation. Diabet Med, 26(1), 14-18. Abstract. Author URL.
Oram RA, Edghill EL, Woolf AS, Hennekam RC, Ellard S, Hattersley AT, Bingham C (2009). RET gene mutations are not a common cause of congenital solitary functioning kidney in adults. NDT Plus, 2(2), 183-184.
Zhou K, Donnelly LA, Kimber CH, Donnan PT, Doney ASF, Leese G, Hattersley AT, McCarthy MI, Morris AD, Palmer CNA, et al (2009). Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study. Diabetes, 58(6), 1434-1439. Abstract. Author URL.
Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S, et al (2009). Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia, 52(8), 1683-1685. Author URL.
Ban M, Goris A, Lorentzen AR, Baker A, Mihalova T, Ingram G, Booth DR, Heard RN, Stewart GJ, Bogaert E, et al (2009). Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor. Eur J Hum Genet, 17(10), 1309-1313. Abstract. Author URL.
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, et al (2009). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet, 41(1), 25-34. Abstract. Author URL.
McDonald TJ, Knight BA, Shields BM, Bowman P, Salzmann MB, Hattersley AT (2009). Stability and reproducibility of a single-sample urinary C-peptide/creatinine ratio and its correlation with 24-h urinary C-peptide. Clin Chem, 55(11), 2035-2039. Abstract. Author URL.
Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT (2009). Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. Diabet Med, 26(10), 1070-1074. Abstract. Author URL.
Webster RJ, Warrington NM, Weedon MN, Hattersley AT, McCaskie PA, Beilby JP, Palmer LJ, Frayling TM (2009). The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits. Diabetologia, 52(1), 106-114. Abstract. Author URL.
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue KC (2009). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes, 10 Suppl 12, 33-42. Author URL.
Kumaraguru J, Flanagan SE, Greeley SAW, Nuboer R, Støy J, Philipson LH, Hattersley AT, Rubio-Cabezas O (2009). Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care, 32(8), 1428-1430. Abstract. Author URL.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, et al (2009). Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes, 58(6), 1428-1433. Abstract. Author URL.
Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, et al (2009). Underlying genetic models of inheritance in established type 2 diabetes associations. American Journal of Epidemiology, 170(5), 537-545. Abstract.
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, et al (2009). Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab
Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM, et al (2008). A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications. Diabetologia, 51(5), 802-810. Abstract. Author URL.
Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JRB, Weedon MN, Singleton A, Hernandez D, Evans J, et al (2008). A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab, 93(8), 3075-3081. Abstract. Author URL.
Thomas CP, Erlandson JC, Edghill EL, Hattersley AT, Stolpen AH (2008). A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes. Kidney Int, 74(8), 1094-1099. Author URL.
de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MSP, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM (2008). A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. EMBO Rep, 9(7), 648-654. Abstract. Author URL.
Lango H, UK Type 2 Diabetes Genetics Consortium, Palmer CNA, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN (2008). Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes, 57(11), 3129-3135. Abstract. Author URL.
Ellard S, Bellanné-Chantelot C, Hattersley AT, European Molecular Genetics Quality Network (EMQN) MODY group (2008). Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia, 51(4), 546-553. Abstract. Author URL.
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Murphy R, Turnbull DM, Walker M, Hattersley AT (2008). Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med, 25(4), 383-399. Abstract. Author URL.
Murphy R, Ellard S, Hattersley AT (2008). Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab, 4(4), 200-213. Abstract. Author URL.
Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, et al (2008). Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. Diabetes Care, 31(9), 1736-1737. Abstract. Author URL.
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Freathy RM, Timpson NJ, Lawlor DA, Pouta A, Ben-Shlomo Y, Ruokonen A, Ebrahim S, Shields B, Zeggini E, Weedon MN, et al (2008). Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI. Diabetes, 57(5), 1419-1426. Abstract. Author URL.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SFA, Farlow DN, et al (2008). Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One, 3(10). Abstract. Author URL.
Harries LW, Sloman MJ, Sellers EAC, Hattersley AT, Ellard S (2008). Diabetes Susceptibility in the Canadian Oji-Cree Population is Moderated by Abnormal mRNA Processing of HNF1A G319S Transcripts. Diabetes, 57(7), 1978-1982.
Harries LW, Sloman MJ, Sellers EAC, Hattersley AT, Ellard S (2008). Diabetes susceptibility in the canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts. Diabetes, 57(7), 1978-1982. Abstract.
Rafiq M, Flanagan SE, Patch A-M, Shields BM, Ellard S, Hattersley AT, Neonatal Diabetes International Collaborative Group (2008). Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31(2), 204-209. Abstract. Author URL.
Manna TD, Battistim C, Radonsky V, Kuperman H, Damiani D, Kok F, Pearson E, Hattersley A, Reis AF (2008). Efficacy of glibenclamide treatment in a child with permanent neonatal diabetes mellitus due to a KCNJ11 (Kir6.2) mutation. HORMONE RESEARCH, 70, 245-245. Author URL.
Flanagan SE, Patch AM, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2008). Erratum: Mutations in ATP-sensitive K<sup>+</sup> cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937)). Diabetes, 57(2).
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Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD (2008). Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Med, 5(3). Abstract. Author URL.
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Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, et al (2008). Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A, 146A(12), 1530-1542. Abstract. Author URL.
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Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF, et al (2008). Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. Arq Bras Endocrinol Metabol, 52(8), 1350-1355. Abstract. Author URL.
Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C (2008). Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. Nephrol Dial Transplant, 23(2), 627-635. Abstract. Author URL.
Mackay DJG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, et al (2008). Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet, 40(8), 949-951. Abstract. Author URL.
Murphy R, Clark PM, Holst JJ, Hattersley AT (2008). Incretin secretion is independent of glucokinase function. DIABETES RESEARCH AND CLINICAL PRACTICE, 79, S19-S19. Author URL.
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Shields BM, Spyer G, Slingerland AS, Knight BA, Ellard S, Clark PM, Hauguel-de Mouzon S, Hattersley AT (2008). Mutations in the glucokinase gene of the fetus result in reduced placental weight. Diabetes Care, 31(4), 753-757. Abstract. Author URL.
Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K (2008). Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes, 57(6), 1659-1663. Abstract. Author URL.
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Slingerland AS, Hattersley A (2008). Prevalence and incidence of a newly defined type of diabetes in children, adolescents, and adults in the largest international series to date. PEDIATRICS, 121, S115-S116. Author URL.
Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Gibbons L, Plant D, Wellcome Trust Case Control Consortium, Wilson AG, et al (2008). Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility. Hum Mol Genet, 17(15), 2274-2279. Abstract. Author URL.
Stratigopoulos G, Padilla SL, LeDuc CA, Watson E, Hattersley AT, McCarthy MI, Zeltser LM, Chung WK, Leibel RL (2008). Regulation of <i>Fto/Ftm</i> gene expression in mice and humans(vol 294, pg R1185, 2008). AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY, 295(4), R1360-R1363. Author URL.
Stratigopoulos G, Padilla SL, LeDuc CA, Watson E, Hattersley AT, McCarthy MI, Zeltser LM, Chung WK, Leibel RL (2008). Regulation of Fto/Ftm gene expression in mice and humans. Am J Physiol Regul Integr Comp Physiol, 294(4), R1185-R1196. Abstract. Author URL.
Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Plant D, Gibbons LJ, Wellcome Trust Case Control Consortium, YEAR Consortium, et al (2008). Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13. Nat Genet, 40(10), 1156-1159. Abstract. Author URL.
Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T, Hattersley AT (2008). Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. J Clin Endocrinol Metab, 93(11), 4373-4380. Abstract. Author URL.
Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M (2008). Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med, 25(3), 277-281. Abstract. Author URL.
Harries LW, Locke JM, Shields B, Hanley NA, Hanley KP, Steele A, Njølstad PR, Ellard S, Hattersley AT (2008). The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes, 57(6), 1745-1752. Abstract. Author URL.
Timpson NJ, Emmett PM, Frayling TM, Rogers I, Hattersley AT, McCarthy MI, Davey Smith G (2008). The fat mass- and obesity-associated locus and dietary intake in children. Am J Clin Nutr, 88(4), 971-978. Abstract. Author URL.
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, et al (2007). A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316(5826), 889-894. Abstract. Author URL.
Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JRB, Elliott KS, Hackett R, Guiducci C, Shields B, et al (2007). A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet, 39(10), 1245-1250. Abstract. Author URL.
Frayling T, Hurst A, Murray A, Melzer D (2007). A common variant of the p16(INK4a) genetic region is associated with physical function in older people. Mechanisms of Ageing and Development, 128(5-6), 370-377.
Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F (2007). A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology, 69(13), 1342-1349. Abstract. Author URL.
Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Walker M, Gillespie KM, Bingley PJ, Hitman GA, et al (2007). An association analysis of the HLA gene region in latent autoimmune diabetes in adults. Diabetologia, 50(1), 68-73. Abstract. Author URL.
Meirhaeghe A, Sandhu MS, McCarthy MI, de Groote P, Cottel D, Arveiler D, Ferrières J, Groves CJ, Hattersley AT, Hitman GA, et al (2007). Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations. Hum Mol Genet, 16(11), 1343-1350. Abstract. Author URL.
Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, et al (2007). Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet, 39(11), 1329-1337. Abstract. Author URL.
MWeedon, Fawcett KA, Sandhu MS, Wasson J (2007). Common variants in WFS1 confer risk of type 2 diabetes. Nature Genetics, 39(10), 951-953.
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Chandak GR, Janipalli CS, Bhaskar S, Kulkarni SR, Mohankrishna P, Hattersley AT, Frayling TM, Yajnik CS (2007). Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia, 50(1), 63-67. Abstract. Author URL.
Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferrannini E, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, et al (2007). Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes, 56(12), 3101-3104. Abstract. Author URL.
Owen KR, Groves CJ, Hanson RL, Knowler WC, Shuldiner AR, Elbein SC, Mitchell BD, Froguel P, Ng MCY, Chan JC, et al (2007). Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects. Diabetes, 56(3), 879-883. Abstract. Author URL.
Locke JM, Harries LW, Sloman MJ, Sellers EA, Hattersley AT, Ellard S (2007). Diabetes susceptibility in the Canadian Oji-Cree population may be moderated by abnormal mRNA processing of <i>HNFIA</i> G319S transcripts. DIABETIC MEDICINE, 24, 36-36. Author URL.
Shimomura K, Girard CAJ, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, et al (2007). Erratum: Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects (Diabetes (2006) 55, (1705-1712)). Diabetes, 56(3).
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Gueorguiev M, Wiltshire S, Garcia EA, Mein C, Lecoeur C, Kristen B, Allotey R, Hattersley AT, Walker M, O'rahilly S, et al (2007). Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes. J Clin Endocrinol Metab, 92(6), 2201-2204. Abstract. Author URL.
Lawlor DA, Timpson NJ, Harbord R, Leary S, Ness A, McCarthy M, Fraying TM, Hattersley AT, Davey GS (2007). Exploring the developmental overnutrition hypothesis using parental-offspring associations and the <i>FTO</i> gene as an instrumental variable for maternal adiposity.: the Avon Longitudinal Study of Parents and Children (ALSPAC). EARLY HUMAN DEVELOPMENT, 83, S48-S49. Author URL.
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Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, et al (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NATURE, 447(7145), 661-678. Author URL.
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K (2007). ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children (vol 7, pg 352, 2006). PEDIATRIC DIABETES, 8(1), 49-49. Author URL.
de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch A-M, Flanagan SE, Ellard S, Hattersley AT, Sansom MSP, Ashcroft FM, et al (2007). Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proc Natl Acad Sci U S A, 104(48), 18988-18992. Abstract. Author URL.
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Singh R, Edghill E, Bingham C, Ellard S, Hattersley AT, Harries LW (2007). Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease. Diabet Med, 24(7), 804-806. Author URL.
Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT (2007). Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med, 4(4). Abstract. Author URL.
Shields BM, Knight B, Hopper H, Hill A, Powell RJ, Hattersley AT, Clark PM (2007). Measurement of cord insulin and insulin-related peptides suggests that girls are more insulin resistant than boys at birth. Diabetes Care, 30(10), 2661-2666. Abstract. Author URL.
Chinnery PF, Mowbray C, Patel SK, Elson JL, Sampson M, Hitman GA, McCarthy MI, Hattersley AT, Walker M (2007). Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls. J Med Genet, 44(6). Abstract. Author URL.
Lango H, Ellard S, Colclough K, Frayling TM, Hattersley AT, Weedon MN (2007). Modifying effect of common Type 2 diabetes associated variants on MODY age of onset. DIABETIC MEDICINE, 24, 11-11. Author URL.
Shimomura K, Girard CAJ, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, et al (2007). Mutations at the same residue (R50) of Kir6.2 (<i>KCNJ11</i>) that cause neonatal diabetes produce different functional effects (vol 55, pg 1705, 2006). DIABETES, 56(3), 897-897. Author URL.
Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2007). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56(7), 1930-1937. Abstract. Author URL.
Minton JAL, van de Bunt M, Boustred C, Hussain K, Hattersley AT, Ellard S, Gloyn AL (2007). Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction. Diabetologia, 50(9), 2019-2022. Author URL.
Ellard S, Edghill EL, Gloyn AL, Harries LW (2007). Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. Journal of Clinical Endocrinology & Metabolism, 92(5), 1773-1777.
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Pearson ER, Donnelly L, Doney ASF, Hattersley AT, McCarthy MI, Morris AD, Palmer CNA (2007). Pharmacogenetics in Type 2 diabetes:: variation in <i>TCF7L2</i> influences response to sulphonylureas. DIABETIC MEDICINE, 24, 5-5. Author URL.
Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, et al (2007). Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab, 92(4), 1276-1282. Abstract. Author URL.
Hattersley AT (2007). Prime suspect: the TCF7L2 gene and type 2 diabetes risk. J Clin Invest, 117(8), 2077-2079. Abstract. Author URL.
Singh R, Hattersley AT, Harries LW (2007). Reduced peripheral blood mitochondrial DNA content is not a risk factor for Type 2 diabetes. Diabet Med, 24(7), 784-787. Abstract. Author URL.
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, et al (2007). Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science, 316(5829), 1336-1341. Abstract. Author URL.
Thomson W, Barton A, Ke X, Eyre S, Hinks A, Bowes J, Donn R, Symmons DP, Hider S, Bruce IN, et al (2007). Rheumatoid arthritis association at 6q23. Nature Genetics, 39(12), 1431-1433. Abstract.
Codner E, Flanagan SE, Ugarte F, García H, Vidal T, Ellard S, Hattersley AT (2007). Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days. Diabetes Care, 30(5), e28-e29. Author URL.
Kimber CH, Doney ASF, Pearson ER, McCarthy MI, Hattersley AT, Leese GP, Morris AD, Palmer CNA (2007). TCF7L2 in the Go-DARTS study: evidence for a gene dose effect on both diabetes susceptibility and control of glucose levels. Diabetologia, 50(6), 1186-1191. Abstract. Author URL.
Knight B, Shields BM, Hill A, Powell RJ, Wright D, Hattersley AT (2007). The impact of maternal glycemia and obesity on early postnatal growth in a nondiabetic Caucasian population. Diabetes Care, 30(4), 777-783. Abstract. Author URL.
Singh R, Pearson ER, Clark PM, Hattersley AT (2007). The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia, 50(3), 620-624. Abstract. Author URL.
De Silva NMG, Steele A, Shields B, Knight B, Parnell K, Weedon MN, Hattersley AT, Frayling TM (2007). The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies. Diabet Med, 24(10), 1067-1072. Abstract. Author URL.
Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, et al (2007). Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet, 80(6), 1150-1161. Abstract. Author URL.
Freathy RM, Weedon MN, McCarthy MI, Walker M, Hitman GA, Ring SM, Ben-Shlomo Y, Smith GD, Hattersley AT, Frayling TM, et al (2007). Type 2 diabetes transcription factor 7-like 2 (<i>TCF7L2</i>) risk alleles reduce beta-cell function and increase birth weight. DIABETIC MEDICINE, 24, 10-10. Author URL.
Pearson ER, Donnelly LA, Kimber C, Whitley A, Doney ASF, McCarthy MI, Hattersley AT, Morris AD, Palmer CNA (2007). Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study. Diabetes, 56(8), 2178-2182. Abstract. Author URL.
Tarasov AI, Welters HJ, Senkel S, Ryffel GU, Hattersley AT, Morgan NG, Ashcroft FM (2006). A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells. Diabetes, 55(11), 3075-3082. Abstract. Author URL.
TFrayling, Clark VJ, Qian Y, Weedon MN (2006). A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. The American Journal of Human Genetics, 79(6), 991-1001.
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Freathy RM, Mitchell SMS, Knight B, Shields B, Weedon MN, Hattersley AT, Frayling TM (2006). A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population. J Negat Results Biomed, 5 Abstract. Author URL.
Slingerland AS, Hattersley AT (2006). Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. J Clin Endocrinol Metab, 91(7), 2782-2788. Abstract. Author URL.
Ward KJ, Ellard S, Yajnik CS, Frayling TM, Hattersley AT, Venigalla PNS, Chandak GR (2006). Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene. Lipids Health Dis, 5 Abstract. Author URL.
Porter JR, Rangasami JJ, Ellard S, Gloyn AL, Shields BM, Edwards J, Anderson JM, Shaw NJ, Hattersley AT, Frayling TM, et al (2006). Asian MODY: are we missing an important diagnosis?. Diabet Med, 23(11), 1257-1260. Abstract. Author URL.
Shields BM, Knight BA, Powell RJ, Hattersley AT, Wright DE (2006). Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size. BMC Pediatr, 6 Abstract. Author URL.
Gloyn AL, Mackay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM, et al (2006). Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. Diabetes, 55(8), 2272-2276. Abstract. Author URL.
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, et al (2006). Association analysis of 6,736 U.K. subjects provides replication and confirms <i>TCF7L2</i> as a type 2 diabetes susceptibility gene with a substantial effect on individual risk (vol 55, pg 2640, 2006). DIABETES, 55(12), 3635-3635. Author URL.
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, et al (2006). Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes, 55(9), 2640-2644. Abstract. Author URL.
Tsuchiya T, Schwarz PEH, Bosque-Plata LD, Geoffrey Hayes M, Dina C, Froguel P, Wayne Towers G, Fischer S, Temelkova-Kurktschiev T, Rietzsch H, et al (2006). Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab, 89(1-2), 174-184. Abstract. Author URL.
Hattersley AT (2006). Beyond the beta cell in diabetes. Nat Genet, 38(1), 12-13. Author URL.
Weedon MN, Hattersley AT, Frayling TM (2006). Chapter 1 Transcription factor genes in type 2 diabetes. Advances in Molecular and Cellular Endocrinology, 5(C), 1-14. Abstract.
Weedon MN, McCarthy MI, Hitman G, Walker M, Groves CJ, Zeggini E, Rayner NW, Shields B, Owen KR, Hattersley AT, et al (2006). Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med, 3(10). Abstract. Author URL.
Patel S, Minton JAL, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG, et al (2006). Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population. Diabetologia, 49(6), 1209-1213. Abstract. Author URL.
Welters HJ, Senkel S, Klein-Hitpass L, Erdmann S, Thomas H, Harries LW, Pearson ER, Bingham C, Hattersley AT, Ryffel GU, et al (2006). Conditional expression of hepatocyte nuclear factor-1beta, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic beta-cells. J Endocrinol, 190(1), 171-181. Abstract. Author URL.
Brackenridge A, Pearson ER, Shojaee-Moradie F, Hattersley AT, Russell-Jones D, Umpleby AM (2006). Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations. Diabetes, 55(2), 405-411. Abstract. Author URL.
Shields BM, Knight B, Shakespeare L, Babrah J, Powell RJ, Clark PM, Hattersley AT (2006). Determinants of insulin concentrations in healthy 1-week-old babies in the community: applications of a bloodspot assay. Early Hum Dev, 82(2), 143-148. Abstract. Author URL.
Wiltshire S, Bell JT, Groves CJ, Dina C, Hattersley AT, Frayling TM, Walker M, Hitman GA, Vaxillaire M, Farrall M, et al (2006). Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. Ann Hum Genet, 70(Pt 6), 726-737. Abstract. Author URL.
Agius E, Attard G, Shakespeare L, Clark P, Vidya M-A, Hattersley AT, Fava S (2006). Familial factors in diabetic nephropathy: an offspring study. Diabet Med, 23(3), 331-334. Abstract. Author URL.
Freathy RM, Weedon MN, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population. JOP, 7(3), 295-302. Abstract. Author URL.
Castleden HAJ, Shields B, Bingley PJ, Williams AJK, Sampson M, Walker M, Gibson JM, McCarthy MI, Hitman GA, Levy JC, et al (2006). GAD antibodies in probands and their relatives in a cohort clinically selected for Type 2 diabetes. Diabet Med, 23(8), 834-838. Abstract. Author URL.
Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM (2006). HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes, 55(6), 1895-1898. Abstract. Author URL.
Pearson E, Steele A, Stals K, Ellard S, Barrett T, Hattersley A, Shield J (2006). HNF-4a mutations cause fetal hyperinsulinaemia, macrosomia and transient neonatal hypoglycaemia. HORMONE RESEARCH, 65, 18-18. Author URL.
Edghill EL, Bingham C, Slingerland AS, Minton JAL, Noordam C, Ellard S, Hattersley AT (2006). Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet Med, 23(12), 1301-1306. Abstract. Author URL.
Craig ME, Hattersley A, Donaghue K, International Society for Pediatric and Adolescent Diabetes (2006). ISPAD Clinical Practice Consensus Guidelines 2006-2007. Definition, epidemiology and classification. Pediatr Diabetes, 7(6), 343-351. Author URL.
Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ (2006). Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia, 49(11), 2559-2563. Abstract. Author URL.
Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT (2006). Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet, 15(14), 2216-2224. Abstract. Author URL.
Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ (2006). KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet, 14(7), 824-830. Abstract. Author URL.
Slingerland AS, Nuboer R, Hadders Algra M, Hattersley AT, Bruining GJ (2006). Kir6.2, diabetes and neurology: new insights, new diagnosis and new treatment. HORMONE RESEARCH, 65, 15-15. Author URL.
Hattersley A (2006). Low birth weight and Type 2 diabetes: fetal programming or shared genes. HORMONE RESEARCH, 65, 2-2. Author URL.
Stenhouse E, Wright DE, Hattersley AT, Millward BA (2006). Maternal glucose levels influence birthweight and 'catch-up' and 'catch-down' growth in a large contemporary cohort. Diabet Med, 23(11), 1207-1212. Abstract. Author URL.
Hattersley AT, Pearson ER (2006). Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology, 147(6), 2657-2663. Abstract. Author URL.
Shimomura K, Girard CAJ, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, et al (2006). Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes, 55(6), 1705-1712. Abstract. Author URL.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT (2006). Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia, 49(6), 1190-1197. Abstract. Author URL.
Edghill EL, Bingham C, Ellard S, Hattersley AT (2006). Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet, 43(1), 84-90. Abstract. Author URL.
Weedon MN, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians. Diabetes, 55(11), 3175-3179. Abstract. Author URL.
Knight B, Shields BM, Hill A, Powell RJ, Round A, Hamilton W, Hattersley AT (2006). Offspring birthweight is not associated with paternal insulin resistance. Diabetologia, 49(11), 2675-2678. Abstract. Author URL.
Shields BM, Knight B, Turner M, Wilkins-Wall B, Shakespeare L, Powell RJ, Hannemann M, Clark PM, Yajnik CS, Hattersley AT, et al (2006). Paternal insulin resistance and its association with umbilical cord insulin concentrations. Diabetologia, 49(11), 2668-2674. Abstract. Author URL.
Hadley D, Murphy T, Valladares O, Hannenhalli S, Ungar L, Kim J, Bućan M (2006). Patterns of sequence conservation in presynaptic neural genes. Genome Biology, 7(11). Abstract.
Spyer G, Ellard S, Turnpenny PD, Hattersley AT, Vaidya B (2006). Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. Thyroid, 16(6), 605-608. Abstract. Author URL.
Singh R, Ellard S, Hattersley A, Harries LW (2006). Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. J Mol Diagn, 8(2), 225-230. Abstract. Author URL.
Singh R, Pearson E, Avery PJ, McCarthy MI, Levy JC, Hitman GA, Sampson M, Walker M, Hattersley AT (2006). Reduced beta cell function in offspring of mothers with young-onset type 2 diabetes. Diabetologia, 49(8), 1876-1880. Abstract. Author URL.
Tomlinson J, Pinkney J, Hattersley A (2006). Screening for diabetes and hyperglycaemia: a retrospective study. Diabetes Primary Care, 8(2), 106-113. Abstract.
Groves CJ, Zeggini E, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, McCarthy MI, Wiltshire S (2006). Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate. Diabetes, 55(6), 1884-1889. Abstract. Author URL.
Hörster F, Hattersley A, Ashcroft F, Grulich-Henn J, Bast T, Fuchs U, Rating D, Wolf N, Ebinger F (2006). Successful therapy with glibenclamid in a patient with a muation of KIR 6.2 subunit of the ATP-sensitive potassium channel. Neuropediatrics, 37(03).
Wagner V, Kremke B, Pearson E, Hattersley A, Hiort O (2006). Successful therapy with sulfonylurea in a 6 year old boy with permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2 of the KCNJ11 gene - patient characteristics and response to one year treatment. HORMONE RESEARCH, 65, 70-70. Author URL.
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, et al (2006). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med, 355(5), 467-477. Abstract. Author URL.
Knight B, Shields BM, Hattersley AT (2006). The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology. Paediatr Perinat Epidemiol, 20(2), 172-179. Abstract. Author URL.
Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Hale TC, Hattersley AT, Hitman GA, et al (2006). The International Type 2 Diabetes 1q Consortium: Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. (vol 55, pg 2541, 2006). DIABETES, 55(11), 3197-3197. Author URL.
Donnelly LA, Doney ASF, Hattersley AT, Morris AD, Pearson ER (2006). The effect of obesity on glycaemic response to metformin or sulphonylureas in Type 2 diabetes. Diabet Med, 23(2), 128-133. Abstract. Author URL.
Freathy RM, Weedon MN, Melzer D, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. BMC Med Genet, 7 Abstract. Author URL.
Freathy RM, Lonnen KF, Steele AM, Minton JAL, Frayling TM, Hattersley AT, Macleod KM (2006). The impact of the angiotensin-converting enzyme insertion/deletion polymorphism on severe hypoglycemia in Type 2 diabetes. Rev Diabet Stud, 3(2), 76-81. Abstract. Author URL.
Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Hitman GA, Walker M, Holman RR, McCarthy MI, et al (2006). The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults. Diabetes, 55(6), 1890-1894. Abstract. Author URL.
Chandak GR, Ward KJ, Yajnik CS, Pandit AN, Bavdekar A, Joglekar CV, Fall CHD, Mohankrishna P, Wilkin TJ, Metcalf BS, et al (2006). Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans. BMC Med Genet, 7 Abstract. Author URL.
Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Hale TC, Hattersley AT, Hitman GA, et al (2006). Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes, 55(9), 2541-2548. Abstract. Author URL.
Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MSP, Ashcroft FM (2005). A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep, 6(5), 470-475. Abstract. Author URL.
Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2005). A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population. Diabetes, 54(8), 2487-2491. Abstract. Author URL.
Hattersley AT, Ashcroft FM (2005). Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes, 54(9), 2503-2513. Abstract. Author URL.
Zeggini E, Rayner W, Morris AP, Hattersley AT, Walker M, Hitman GA, Deloukas P, Cardon LR, McCarthy MI (2005). An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet, 37(12), 1320-1322. Abstract. Author URL.
Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, Hattersley AT (2005). Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care, 28(7), 1751-1756. Abstract. Author URL.
Timpson NJ, Lawlor DA, Harbord RM, Gaunt TR, Day INM, Palmer LJ, Hattersley AT, Ebrahim S, Lowe GDO, Rumley A, et al (2005). C-reactive protein and its role in metabolic syndrome: mendelian randomisation study. Lancet, 366(9501), 1954-1959. Abstract. Author URL.
Ellard S, Hattersley AT, Brewer CM, Vaidya B (2005). Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin Endocrinol (Oxf), 62(2), 169-175. Abstract. Author URL.
Knight B, Shields BM, Turner M, Powell RJ, Yajnik CS, Hattersley AT (2005). Evidence of genetic regulation of fetal longitudinal growth. Early Hum Dev, 81(10), 823-831. Abstract. Author URL.
Zeggini E, Parkinson JRC, Halford S, Owen KR, Walker M, Hitman GA, Levy JC, Sampson MJ, Frayling TM, Hattersley AT, et al (2005). Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabet Med, 22(12), 1696-1700. Abstract. Author URL.
Hattersley AT, McCarthy MI (2005). Genetic Epidemiology 5 - What makes a good genetic association study?. LANCET, 366(9493), 1315-1323. Author URL.
Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Voss LD, Metcalf BS, Wilkin TJ, McCarthy A, Ben-Shlomo Y, et al (2005). Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes, 54(2), 576-581.
Schnyder S, Mullis PE, Ellard S, Hattersley AT, Flück CE (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss Med Wkly, 135(23-24), 352-356. Abstract. Author URL.
Maeda S, Tsukada S, Kanazawa A, Sekine A, Tsunoda T, Koya D, Maegawa H, Kashiwagi A, Babazono T, Matsuda M, et al (2005). Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet, 50(6), 283-292. Abstract. Author URL.
Codner E, Flanagan SE, Ellard S, Garcia H, Hattersley AT (2005). High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care, 28(3), 758-759.
Codner E, Flanagan S, Ellard S, García H, Hattersley AT (2005). High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care, 28(3), 758-759. Author URL.
Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HAJ, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, et al (2005). Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem, 280(14), 14105-14113. Abstract. Author URL.
Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, et al (2005). KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat, 25(1), 22-27. Abstract. Author URL.
Zeggini E, Groves CJ, Parkinson JRC, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, et al (2005). Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia, 48(10), 2013-2017. Abstract. Author URL.
Dobson L, Stride A, Bingham C, Elworthy S, Sheldon CD, Hattersley AT (2005). Microalbuminuria as a screening tool in cystic fibrosis-related diabetes. Pediatr Pulmonol, 39(2), 103-107. Abstract. Author URL.
Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HAJ, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, et al (2005). Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia, 48(5), 878-885. Abstract. Author URL.
Hattersley AT (2005). Molecular genetics goes to the diabetes clinic. Clin Med (Lond), 5(5), 476-481. Abstract. Author URL.
Slingerland AS, Hattersley AT (2005). Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment. Ann Med, 37(3), 186-195. Abstract. Author URL.
John H, Flanagan SE, Corrall R, Hattersley AT, Ellard S, Sheppherd M (2005). Neonatal diabetes is more than just a paediatric problem: 57 years of diabetes from a Kir6.2 mutation. Pract Diab Int, 22
Šumník Z, Průhová S, Koloušková S, Cinek O, Lebl J, Vavřinec J, Hattersley AT (2005). Neonatal diabetes mellitus caused by activation mutation in the gene encoding the Kir6.2 subunit of potassium channel: is insulindependency inevitably life-long?. Cesko-Slovenska Pediatrie, 60(6), 332-337. Abstract.
Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL (2005). Permanent neonatal diabetes in an Asian infant. J Pediatr, 146(1), 131-133. Abstract. Author URL.
Sagen JV, Pearson ER, Johansen A, Spyer G, Søvik O, Pedersen O, Njølstad PR, Hattersley AT, Hansen T (2005). Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers. Diabet Med, 22(4), 406-409. Abstract. Author URL.
AHattersley, Ellard S, Gloyn AL, Reimann F (2005). Relapsing diabetes can result from moderately activating mutations in KCNJ11. Human Molecular Genetics, 14(7), 925-934.
Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJG, Shield JPH, Freedenberg D, et al (2005). Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet, 14(7), 925-934. Abstract. Author URL.
Fava S, Hattersley AT (2005). Reported parental age of death in type 2 diabetic patients with and without established diabetic nephropathy. Eur J Intern Med, 16(7), 482-484. Abstract. Author URL.
Chinnery PF, Elliott HR, Patel S, Lambert C, Keers SM, Durham SE, McCarthy MI, Hitman GA, Hattersley AT, Walker M, et al (2005). Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet, 366(9497), 1650-1651. Abstract. Author URL.
Klupa T, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT, Malecki MT (2005). The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation. Diabetologia, 48(5), 1029-1031. Author URL.
Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S (2005). The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet, 118(2), 214-224. Abstract. Author URL.
Hattersley AT, McCarthy MI (2005). What makes a good genetic association study?. Lancet, 366(9493), 1315-1323. Abstract. Author URL.
Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, Hattersley AT (2005). β-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1α mutation carriers. Diabetes Care, 28(7), 1751-1756. Abstract.
Shepherd M, Hattersley AT (2004). 'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clin Med (Lond), 4(2), 144-147. Abstract. Author URL.
Greaves CJ, Stead JW, Hattersley AT, Ewings P, Brown P, Evans PH (2004). A simple pragmatic system for detecting new cases of type 2 diabetes and impaired fasting glycaemia in primary care. Fam Pract, 21(1), 57-62. Abstract. Author URL.
Harries LW, Ellard S, Jones RWA, Hattersley AT, Bingham C (2004). Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. Diabetologia, 47(5), 937-942. Abstract. Author URL.
Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EAM, Hattersley AT (2004). Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years. Diabetes, 53(11), 2998-3001. Abstract. Author URL.
Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JMCL, Molnes J, et al (2004). Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med, 350(18), 1838-1849. Abstract. Author URL.
Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'rahilly S, et al (2004). Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia, 47(12), 2168-2175. Abstract. Author URL.
Zeggini E, Parkinson J, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, Sampson MJ, Feskens EJM, et al (2004). Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset. Diabetes, 53(12), 3319-3322. Abstract. Author URL.
Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM, et al (2004). Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population. Diabetes, 53(11), 3002-3006. Abstract. Author URL.
Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT (2004). Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. Diabetes Care, 27(5), 1102-1107. Abstract. Author URL.
Dobson L, Sheldon CD, Hattersley AT (2004). Conventional measures underestimate glycaemia in cystic fibrosis patients. Diabet Med, 21(7), 691-696. Abstract. Author URL.
Wiltshire S, Frayling TM, Groves CJ, Levy JC, Hitman GA, Sampson M, Walker M, Menzel S, Hattersley AT, Cardon LR, et al (2004). Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes, 53(3), 855-860. Abstract. Author URL.
Ehtisham S, Hattersley AT, Dunger DB, Barrett TG, British Society for Paediatric Endocrinology and Diabetes Clinical Trials Group (2004). First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child, 89(6), 526-529. Abstract. Author URL.
Mills GW, Avery PJ, McCarthy MI, Hattersley AT, Levy JC, Hitman GA, Sampson M, Walker M (2004). Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to type 2 diabetes. Diabetologia, 47(4), 732-738. Abstract. Author URL.
Vaxillaire M, Populaire C, Busiah K, Cavé H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M (2004). Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes, 53(10), 2719-2722. Abstract. Author URL.
Mitchell SMS, Hattersley AT, Knight B, Turner T, Metcalf BS, Voss LD, Davies D, McCarthy A, Wilkin TJ, Smith GD, et al (2004). Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations. J Clin Endocrinol Metab, 89(1), 310-317. Abstract. Author URL.
Owen KR, Donohoe M, Ellard S, Clarke TJ, Nicholls AJ, Hattersley AT, Bingham C (2004). Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract, 96(2), c35-c38. Abstract. Author URL.
Harries LW, Hattersley AT, Ellard S (2004). Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay. Diabetes, 53(2), 500-504. Abstract. Author URL.
Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM (2004). Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A, 101(50), 17539-17544. Abstract. Author URL.
Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, et al (2004). Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat Genet, 36(12), 1301-1305. Abstract. Author URL.
Sagen JV, Raeder H, Hathout E, Shehadeh N, Gudmundsson K, Baevre H, Abuelo D, Phornphutkul C, Molnes J, Bell GI, et al (2004). Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes, 53(10), 2713-2718. Abstract. Author URL.
Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S (2004). Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab, 89(8), 3932-3935. Abstract. Author URL.
Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S (2004). Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. Clin Endocrinol (Oxf), 60(6), 711-718. Abstract. Author URL.
Burren CP, Hattersley AT (2004). Remitting diabetes: a new genetic subgroup?. Diabetes Care, 27(7). Author URL.
Bingham C, Hattersley AT (2004). Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta. Nephrol Dial Transplant, 19(11), 2703-2708. Author URL.
Owen KR, Evans JC, Frayling TM, Hattersley AT, McCarthy MI, Walker M, Hitman GA (2004). Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes. Diabetologia, 47(5), 957-958. Author URL.
Stride A, Pearson ER, Brown A, Gooding K, Castleden HAJ, Hattersley AT (2004). Serum amino acids in patients with mutations in the hepatocyte nuclear factor-1 alpha gene. Diabet Med, 21(8), 928-930. Abstract. Author URL.
Weedon MN, Hattersley AT, Frayling TM (2004). Tall stories: the fundamental difficulties of genetic association studies. Clin Endocrinol (Oxf), 60(1), 145-146. Author URL.
Stenhouse E, Wright DE, Hattersley AT, Millward A (2004). The accuracy of birth weight. J Clin Nurs, 13(6), 767-768. Author URL.
McCarron P, Davey Smith G, Hattersley AT (2004). Type 2 diabetes in grandparents and birth weight in offspring and grandchildren in the ALSPAC study. J Epidemiol Community Health, 58(6), 517-522. Abstract. Author URL.
Hattersley AT (2004). Unlocking the secrets of the pancreatic beta cell: man and mouse provide the key. J Clin Invest, 114(3), 314-316. Abstract. Author URL.
Hattersley AT (2004). Unlocking the secrets of the pancreatic β cell: Man and mouse provide the key. Journal of Clinical Investigation, 114(3), 314-316. Abstract.
Stenhouse E, Wright DE, Hattersley AT, Millward BA (2004). Weight differences in Plymouth toddlers compared to the British Growth Reference Population. Arch Dis Child, 89(9), 843-844. Abstract. Author URL.
Frayling TM, Lindgren CM, Chevre JC, Menzel S, Wishart M, Benmezroua Y, Brown A, Evans JC, Rao PS, Dina C, et al (2003). A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes, 52(3), 872-881. Abstract. Author URL.
Demenais F, Kanninen T, Lindgren CM, Wiltshire S, Gaget S, Dandrieux C, Almgren P, Sjögren M, Hattersley A, Dina C, et al (2003). A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes. Hum Mol Genet, 12(15), 1865-1873. Abstract. Author URL.
Owen KR, Roland J, Smith K, Hattersley AT (2003). Adolescent onset Type 2 diabetes in a non-obese Caucasian patient with an unbalanced translocation. Diabet Med, 20(6), 483-485. Abstract. Author URL.
Powell DS, Maksoud H, Chargé SBP, Moffitt JH, Desai M, Da Silva Fihlo RL, Hattersley AT, Stratton IM, Matthews DR, Levy JC, et al (2003). Apolipoprotein E genotype, islet amyloid deposition and severity of Type 2 diabetes. Diabetes Res Clin Pract, 60(2), 105-110. Abstract. Author URL.
Ferguson SC, Deary IJ, Perros P, Evans JC, Ellard S, Hattersley AT, Frier BM (2003). Apolipoprotein-E influences aspects of intellectual ability in type 1 diabetes (vol 52, pg 145, 2003). DIABETES, 52(7), 1877-1877. Author URL.
Ferguson SC, Deary IJ, Perros P, Evans JC, Ellard S, Hattersley AT, Frier BM (2003). Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes. Diabetes, 52(1), 145-148. Abstract. Author URL.
Groves CJ, Wiltshire S, Smedley D, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, Menzel S, et al (2003). Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility. Diabetes, 52(5), 1300-1305. Abstract. Author URL.
Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, et al (2003). Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int, 63(5), 1645-1651. Abstract. Author URL.
Bohn S, Thomas H, Turan G, Ellard S, Bingham C, Hattersley AT, Ryffel GU (2003). Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. J Am Soc Nephrol, 14(8), 2033-2041. Abstract. Author URL.
Ferguson SC, Deary IJ, Perros P, Evans JC, Ellard S, Hattersley AT, Frier BM (2003). Erratum: Apolipoprotein-E influences aspects of intellectual ability in type 1 diabetes (Diabetes (2003) 52 (145-148)). Diabetes, 52(7).
Jafar TH, Levey AS, Jafary FH, White F, Gul A, Rahbar MH, Khan AQ, Hattersley A, Schmid CH, Chaturvedi N, et al (2003). Ethnic subgroup differences in hypertension in Pakistan. J Hypertens, 21(5), 905-912. Abstract. Author URL.
Owen KR, Stride A, Ellard S, Hattersley AT (2003). Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care, 26(7), 2088-2093. Abstract. Author URL.
Pearson ER, Shakespeare L, Starkey B, Powell R, Clark PM, Hattersley AT (2003). Genetic Aetiology of Hyperglycaemia Alters Response to Treatment in Diabetes. Clinical Science, 104(s49), 19p-19p.
Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT (2003). Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet, 362(9392), 1275-1281. Abstract. Author URL.
Ward KJ, Shields B, Knight B, Salzmann MB, Hattersley AT, Frayling TM (2003). Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy. Lipids Health Dis, 2 Abstract. Author URL.
Mitchell SMS, Weedon MN, Owen KR, Shields B, Wilkins-Wall B, Walker M, McCarthy MI, Frayling TM, Hattersley AT (2003). Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjects. Diabetes, 52(5), 1276-1279. Abstract. Author URL.
Stenhouse E, Wright D, Hattersley A, Millward A (2003). How well do midwives estimate the date of delivery?. Midwifery, 19(2), 125-131. Abstract. Author URL.
Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LIS, Beards F, Hattersley AT, Ellard S (2003). Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat, 22(5). Abstract. Author URL.
Lambert AP, Ellard S, Allen LIS, Gallen IW, Gillespie KM, Bingley PJ, Hattersley AT (2003). Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. Diabetes Care, 26(2), 333-337. Abstract. Author URL.
Gloyn AL, Noordam K, Willemsen MAAP, Ellard S, Lam WWK, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, et al (2003). Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes, 52(9), 2433-2440. Abstract. Author URL.
TFrayling, Gloyn AL, Knight BA, Weedon MN (2003). Large-Scale Association Studies of Variants in Genes Encoding the Pancreatic beta-Cell K(ATP) Channel Subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with Type 2 diabetes. Diabetes, 52(2), 568-572.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, et al (2003). Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes, 52(2), 568-572. Abstract. Author URL.
Weedon MN, Schwarz PEH, Horikawa Y, Iwasaki N, Illig T, Holle R, Rathmann W, Selisko T, Schulze J, Owen KR, et al (2003). Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility. Am J Hum Genet, 73(5), 1208-1212. Author URL.
Shepherd M, Pearson ER, Houghton J, Salt G, Ellard S, Hattersley AT (2003). No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care, 26(11), 3191-3192. Author URL.
Weedon MN, Gloyn AL, Frayling TM, Hattersley AT, Davey Smith G, Ben-Shlomo Y (2003). Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2. Diabetologia, 46(7), 1021-1023. Author URL.
Richter S, Shih DQ, Pearson ER, Wolfrum C, Fajans SS, Hattersley AT, Stoffel M (2003). Regulation of apolipoprotein M gene expression by MODY3 gene hepatocyte nuclear factor-1alpha: haploinsufficiency is associated with reduced serum apolipoprotein M levels. Diabetes, 52(12), 2989-2995. Abstract. Author URL.
Owen KR, Donohoe M, Ellard S, Hattersley AT (2003). Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med, 20(10), 823-827. Abstract. Author URL.
Pfeiffer C, Winkler F, Luger A, Pieber T, Saudek F, Skrha J, Hermansen K, Lervang HH, Nistrup-Holmegaard S, Bergkulla S, et al (2003). Safety and efficacy of insulin glargine (HOE 901) versus NPH insulin in combination with oral treatment in Type 2 diabetic patients. DIABETIC MEDICINE, 20(7), 545-551. Author URL.
Dobson L, Sheldon CD, Hattersley AT (2003). Validation of interstitial fluid continuous glucose monitoring in cystic fibrosis. Diabetes Care, 26(6), 1940-1941. Author URL.
Weedon MN, Turner M, Knight B, Clark P, Hattersley AT, Frayling TM (2003). Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population. Clin Endocrinol (Oxf), 59(2), 175-179. Abstract. Author URL.
Frayling TM, Wiltshire S, Hitman GA, Walker M, Levy JC, Sampson M, Groves CJ, Menzel S, McCarthy MI, Hattersley AT, et al (2003). Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11. Diabetes, 52(7), 1857-1863. Abstract. Author URL.
Andersen G, Hansen T, Gharani N, Frayling TM, Owen KR, Sampson M, Ellard S, Walker M, Hitman GA, Hattersley AT, et al (2002). A common Gly482Ser polymorphism of <i>PGC-1</i> is associated with type 2 diabetes mellitus in two European populations. DIABETES, 51, A49-A50. Author URL.
Goff SA, Ricke D, Lan T-H, Presting G, Wang R, Dunn M, Glazebrook J, Sessions A, Oeller P, Varma H, et al (2002). A draft sequence of the rice genome (Oryza sativa L. ssp. japonica). Science, 296(5565), 92-100. Abstract. Author URL.
Frayling TM, Hattersley AT, McCarthy A, Holly J, Mitchell SMS, Gloyn AL, Owen K, Davies D, Smith GD, Ben-Shlomo Y, et al (2002). A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations. Diabetes, 51(7), 2313-2316. Abstract. Author URL.
Frayling TM, Minton J, Knight B, Turner T, Barrett TG, Hattersley AT (2002). A putative type 2 diabetes susceptibility allele in the <i>WFS1</i> gene and fetal growth. DIABETES, 51, A264-A264. Author URL.
Ellard S, Bulman MP, Harries LW, Shepherd M (2002). Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. Diabetologia, 45(10), 1463-1467.
Shore AC, Evans JC, Frayling TM, Clark PM, Lee BC, Horikawa Y, Hattersley AT, Tooke JE (2002). Association of calpain-10 gene with microvascular function. Diabetologia, 45(6), 899-904. Abstract. Author URL.
Minton JAL, Hattersley AT, Owen K, McCarthy MI, Walker M, Latif F, Barrett T, Frayling TM (2002). Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. Diabetes, 51(4), 1287-1290. Abstract. Author URL.
Stenhouse E, Wright DE, Hattersley AT, Millward BA (2002). Birth weight is an accurate and reliable measurement and can be used in studies of Type 1 and 2 diabetes. DIABETES, 51, A537-A537. Author URL.
Dobson L, Hattersley AT, Tiley S, Elworthy S, Oades PJ, Sheldon CD (2002). Clinical improvement in cystic fibrosis with early insulin treatment. Arch Dis Child, 87(5), 430-431. Author URL.
Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJG, Polak M, Barrett T, Hattersley AT (2002). Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia, 45(2). Author URL.
Frayling TM, Hattersley AT, Smith GD, Ben-Shlomo Y (2002). Conflicting results on variation in the IGFI gene highlight methodological considerations in the design of genetic association studies. Diabetologia, 45(11), 1605-1606. Author URL.
Stride A, Hattersley AT (2002). Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med, 34(3), 207-216. Abstract. Author URL.
Thomas H, Badenberg B, Bulman M, Lemm I, Lausen J, Kind L, Roosen S, Ellard S, Hattersley AT, Ryffel GU, et al (2002). Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations. Biol Chem, 383(11), 1691-1700. Abstract. Author URL.
Groves CJ, Wiltshire S, Menzel S, Walker M, Hitman GA, Hattersley AT, Levy JC, O'Rahilly S, Mccarthy MI (2002). Evidence for interaction between type 2 diabetes susceptibility loci on chromosomes 10q and 1q from analysis of 687 UK families. DIABETES, 51, A51-A51. Author URL.
Wiltshire S, Frayling TM, Hattersley AT, Hitman GA, Walker M, Levy JC, O'Rahilly S, Groves CJ, Menzel S, Cardon LR, et al (2002). Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes. Am J Hum Genet, 70(2), 543-546. Abstract. Author URL.
Turner JJO, Leotlela PD, Pannett AAJ, Forbes SA, Bassett JHD, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, et al (2002). Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab, 87(6), 2688-2693. Abstract. Author URL.
Minton JAL, Hattersley AT, Owen K, Mccarthy MI, Walker M, Latif F, Barrett TG, Frayling TM (2002). Genetic variation in the WFS1 gene: Association and linkage studies in type 2 diabetes UK Populations. DIABETES, 51, A39-A39. Author URL.
Owen KR, Shepherd M, Stride A, Ellard S, Hattersley AT (2002). Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics. Diabet Med, 19(9), 758-761. Abstract. Author URL.
Gloyn AL, Desai M, Clark A, Levy JC, Holman RR, Frayling TM, Hattersley AT, Ashcroft SJH (2002). Human calcium/calmodulin-dependent protein kinase II gamma gene (CAMK2G): cloning, genomic structure and detection of variants in subjects with type II diabetes. Diabetologia, 45(4), 580-583. Abstract. Author URL.
Owen K, Ayres S, Corbett S, Hattersley A (2002). Increased risk of diabetes in first-degree relatives of young-onset type 2 diabetic patients compared with relatives of those diagnosed later. Diabetes Care, 25(3), 636-637. Author URL.
Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT (2002). Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care, 25(12), 2287-2291. Abstract. Author URL.
Owen K, Ayres S, Ellard S, Hattersley AT (2002). Investigations for a specific aetiology are beneficial in a subset of young-onset type 2 diabetes. DIABETES, 51, A235-A235. Author URL.
Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT (2002). Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. Diabetes, 51(7), 2329-2333. Abstract. Author URL.
Hattersley A (2002). Multiple facets of diabetes in young people. Current Science, 82(3), 273-278. Abstract.
Stride A, Lambert P, Burden ACF, Mansell P, Page S, Hattersley AT (2002). Necrobiosis lipodica is a clinical feature of maturity-onset diabetes of the young. Diabetes Care, 25(7), 1249-1250. Author URL.
Mitchell SMS, Hattersley AT, McCarthy A, Turner T, Knight B, Davies D, Smith GD, Ben-Shlomo Y, Frayling TM (2002). No evidence for role of <i>INS-VNTR</i> locus in determining birthweight. DIABETES, 51, A261-A261. Author URL.
Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT (2002). Novel insights into the regulation of the <i>hepatocyte nuclear factor 4</i> alpha gene from the analysis of a balanced translocation in maturity-onset diabetes of the young. DIABETES, 51, A264-A264. Author URL.
Pearson ER, Shakespeare L, Starkey B, Clark PM, Hattersley AT (2002). Pharmacogenetics in non-insulin dependent diabetes:: the mechanism of sulphonylurea sensitivity in HNF-1α MODY. DIABETES, 51, A111-A111. Author URL.
Mitchell SMS, Vaxillaire M, Thomas H, Parrizas M, Benmezroua Y, Costa A, Hansen T, Owen KR, Tuomi T, Pirie F, et al (2002). Rare variants identified in the HNF- 4 alpha beta-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes. Diabetologia, 45(9), 1344-1348. Abstract. Author URL.
Waller SC, Rees L, Woolf AS, Ellard S, Pearson ER, Hattersley AT, Bingham C (2002). Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. Am J Kidney Dis, 40(6), 1325-1330. Abstract. Author URL.
Bingham C, Ellard S, Cole TRP, Jones KE, Allen LIS, Goodship JA, Goodship THJ, Bakalinova-Pugh D, Russell GI, Woolf AS, et al (2002). Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int, 61(4), 1243-1251. Abstract. Author URL.
Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njølstad PR, Hansen T, Costa A, Conget I, Pedersen O, Søvik O, et al (2002). The genetic abnormality in the beta cell determines the response to an oral glucose load. Diabetologia, 45(3), 427-435. Abstract. Author URL.
Fava S, Hattersley AT (2002). The role of genetic susceptibility in diabetic nephropathy: evidence from family studies. Nephrol Dial Transplant, 17(9), 1543-1546. Author URL.
Mitchell SMS, Gloyn AL, Owen KR, Hattersley AT, Frayling TM (2002). The role of the HNF4alpha enhancer in type 2 diabetes. Mol Genet Metab, 76(2), 148-151. Abstract. Author URL.
Mccarthy MI, Wiltshire S, Hattersley AT, Walker M, Hitman GA, O'Rahilly S, Levy JC, Menzel S, Frayling TM, Groves CJ, et al (2002). The type 2 diabetes susceptibility region on chromosome 1q: Studies in UK and French nuclear families. DIABETES, 51, A50-A51. Author URL.
Barrett TG, Ehtisham S, Smith A, Hattersley AT (2002). UK diabetes survey shows type 2 diabetes present in 0.4% of newly diagnosed children, associated with overweight, female, and ethnic minority. DIABETES, 51, A25-A25. Author URL.
Lynn S, Evans JC, White C, Frayling TM, Hattersley AT, Turnbull DM, Horikawa Y, Cox NJ, Bell GI, Walker M, et al (2002). Variation in the calpain-10 gene affects blood glucose levels in the British population. Diabetes, 51(1), 247-250. Abstract. Author URL.
Haddad L, Evans JC, Gharani N, Robertson C, Rush K, Wiltshire S, Frayling TM, Wilkin TJ, Demaine A, Millward A, et al (2002). Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome. J Clin Endocrinol Metab, 87(6), 2606-2610. Abstract. Author URL.
Bosselaar M, Hattersley AT, Tack CJJ (2002). [High sensitivity to sulphonylurea treatment in 2 patients with maturity-onset diabetes of the young type 3]. Ned Tijdschr Geneeskd, 146(15), 726-729. Abstract. Author URL.
Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, et al (2001). A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet, 10(19), 2089-2097. Abstract. Author URL.
Frayling TM, Menzel S, Wishart M, Vaxillaire M, Lindgren C, Tuomi T, Wang Y, Brown A, Bulman MP, Ellard S, et al (2001). A genome scan reveals heterogeneity among European families with maturity onset diabetes of the young. DIABETOLOGIA, 44, A64-A64. Author URL.
Wiltshire S, Hattersley AT, Hitman GA, Walker M, Levy JC, Sampson M, O'Rahilly S, Frayling TM, Bell JI, Lathrop GM, et al (2001). A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet, 69(3), 553-569. Abstract. Author URL.
Mitchell SMS, Thomas H, Jaschkowitz K, Bulman MP, Frayling TM, Tack C, Ellard S, Ryffel GU, Hattersley AT (2001). A mutation of a novel splice variant of HNF-4a co-segregates with maturity-onset diabetes of the young (MODY). DIABETOLOGIA, 44, A65-A65. Author URL.
Fava S, Azzopardi J, Ellard S, Hattersley AT (2001). ACE gene polymorphism as a prognostic indicator in patients with type 2 diabetes and established renal disease. Diabetes Care, 24(12), 2115-2120. Abstract. Author URL.
Fava S, Azzopardi J, Watkins PJ, Hattersley AT (2001). Adult height and proteinuria in type 2 diabetes. Nephrol Dial Transplant, 16(3), 525-528. Abstract. Author URL.
Ferguson SC, Evans JC, Ellard S, Hattersley AT, Deary IJ, Frier BM (2001). Apolipoprotein-E allotype influences cognitive function in type 1 diabetes but not susceptibility to hypoglycemic brain injury. DIABETES, 50, A136-A136. Author URL.
Gloyn AL, Desai M, Clark A, Holman RR, Levy JC, Frayling TM, Hattersley AT, Ashcroft SJH (2001). Calcium/calmodulin - Dependent protein kinase II gamma: Cloning, determination of genomic structure and screening for variants in subjects with type 2 diabetes. DIABETES, 50, A236-A236. Author URL.
Gloyn AL, Desai M, Clark A, Holman RR, Frayling TM, Hattersley AT, Ashcroft SJH (2001). Calcium/calmodulin dependent protein kinase II genes: Genomic structure and screening for variants in subjects with Type 2 diabetes. DIABETOLOGIA, 44, A88-A88. Author URL.
Velho G, Hattersley AT, Froguel P (2001). Comments to:: !Velho G, !Hattersley AT, !Froguel P (2000) Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity.: Diabetologia 43: 1060-1063 -: Reply. DIABETOLOGIA, 44(4), 517-518. Author URL.
Gloyn AL, Ellard S, Shield JPH, Temple IK, Mackay DJG, Barrett T, Hattersley AT (2001). Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes in European cases of neonatal diabetes. AMERICAN JOURNAL OF HUMAN GENETICS, 69(4), 607-607. Author URL.
Hattersley AT, Spyer G, Shepherd M, MacLeod KM, Ellard S (2001). Defining the role of fetal insulin secretion in fetal and placental growth by the study of diabetic pregnancy in mothers with heterozygous glucokinase mutations. DIABETES, 50, A4-A4. Author URL.
Butter NL, Hattersley AT, Clark PM (2001). Development of a bloodspot assay for insulin. Clin Chim Acta, 310(2), 141-150. Abstract. Author URL.
Dobson L, Elworthy S, Hattersley AT, Oades PJ, Sheldon CD (2001). Diagnosing insulin deficiency in cystic fibrosis: When should insulin therapy start?. THORAX, 56, 83-83. Author URL.
McCarthy MI, Hattersley AT, Walker M, Hitman GA, Levy JC, O'Rahilly S, Frayling TM, Bennett A, Smedley D, Menzel S, et al (2001). Genome scan linkage data from a large European family collection supports localisation of a type 2 diabetes susceptibility gene to chromosome 1q21-23. DIABETES, 50, A27-A27. Author URL.
Frayling TM, Wiltshire S, Walker M, Hitman GA, Levy JC, O'Rahilly S, Lathrop M, Menzel SM, McCarthy MI, Hattersley AT, et al (2001). Genome wide linkage analyses in subsets of young onset type 2 diabetes families from the diabetes (UK) warren 2 sibpair repository reveal loci on chromosomes 1, 5, 8, 10 and 22. DIABETES, 50, A28-A28. Author URL.
Kousta E, Ellard S, Allen LI, Saker PJ, Huxtable SJ, Hattersley AT, McCarthy MI (2001). Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes. Diabet Med, 18(8), 683-684. Author URL.
Ellard S, Bingham C, Jones K, Goodship J, Cole T, Van't Hoff W, Woolf A, Nicholls AJ, Hattersley AT (2001). Hepatocyte Nuclear Factor 1-beta (HNF-1 beta): One gene - how many phenotypes?. JOURNAL OF MEDICAL GENETICS, 38, S19-S19. Author URL.
Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LIS, Hattersley AT, Woolf AS (2001). Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol, 12(10), 2175-2180. Abstract. Author URL.
Owen K, Ayres S, Corbett SE, Hattersley AT (2001). Increased risk of diabetes in first degree relatives of young-onset type 2 subjects. DIABETES, 50, A99-A100. Author URL.
Spyer G, Hattersley AT, Sykes JE, Sturley RH, MacLeod KM (2001). Influence of maternal and fetal glucokinase mutations in gestational diabetes. Am J Obstet Gynecol, 185(1), 240-241. Abstract. Author URL.
Coward RJ, Risdon RA, Bingham C, Hattersley AT, Woolf AS (2001). Kidney disease in hypomelanosis of Ito. Nephrol Dial Transplant, 16(6), 1267-1269. Author URL.
McCarthy MI, Hattersley AT, Walker M, Hitman GA, Levy JC, O'Rahilly S, Lathrop GM, Simecek N, Wishart M, Dhillon R, et al (2001). Linkage analysis in the Diabetes (UK) Warren 2 sibpair repository supports localisation of a type 2 diabetes susceptibility gene to chromosome 1q21-24. DIABETOLOGIA, 44, A37-A37. Author URL.
Shield J, Owen K, Robinson DO, Mackay D, Ellard S, Hattersley A, Temple IK (2001). Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. Diabetologia, 44(7). Author URL.
Owen K, Hattersley AT (2001). Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization. Best Pract Res Clin Endocrinol Metab, 15(3), 309-323. Abstract. Author URL.
McCarthy MI, Hattersley AT (2001). Molecular diagnostics in monogenic and multifactorial forms of type 2 diabetes. Expert Rev Mol Diagn, 1(4), 403-412. Abstract. Author URL.
CBingham, Bulman MP, Ellard S (2001). Mutations in the hepatocyte nuclear factor-1 beta gene are associated with familial hypoplastic glomerulocystic kidney disease. The American Journal of Human Genetics, 68(1), 219-224.
Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, et al (2001). Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet, 68(1), 219-224. Abstract. Author URL.
Shepherd M, Sparkes AC, Hattersley AT (2001). Outcome of insulin treatment in type 2 diabetic patients with secondary oral hypoglycaemic failure. Practical Diabetes International, 18(1), 10-12. Abstract.
Shepherd M, Ellis I, Ahmad AM, Todd PJ, Bowen-Jones D, Mannion G, Ellard S, Sparkes AC, Hattersley AT (2001). Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet Med, 18(5), 417-421. Abstract. Author URL.
Lee BC, Shore AC, Humphreys JM, Lowe GD, Rumley A, Clark PM, Hattersley AT, Tooke JE (2001). Skin microvascular vasodilatory capacity in offspring of two parents with Type 2 diabetes. Diabet Med, 18(7), 541-545. Abstract. Author URL.
Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O'Rahilly S, Rao PV, Bennett AJ, et al (2001). Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet, 69(3), 544-552. Abstract. Author URL.
Bingham C, Ellard S, Nicholls AJ, Pennock CA, Allen J, James AJ, Satchell SC, Salzmann MB, Hattersley AT (2001). The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes, 50(9), 2047-2052. Abstract. Author URL.
Stride A, Hattersley AT, Vaxillaire M, Froguel P, Tuomi T, Groop L, Barbetti F, Lorini R, Njolstad PR, Sovik O, et al (2001). The genetic abnormality in the beta-cell determines the response to an oral glucose load. DIABETES, 50, A102-A102. Author URL.
Pearson ER, Bingham C, Stride A, Clark P, Shepherd M, Ellard S, Hattersley AT (2001). The mutation phenotype reveals a critical and differing role of the Hepatic Nuclear Factor 1α and Hepatic Nuclear Factor 1β in embryological development. DIABETOLOGIA, 44, A65-A65. Author URL.
Stride A, Hattersley AT, Vaxillaire M, Froguel P, Tuomi T, Groop L, Barbetti F, Lorini R, Njolstad PR, Sovik O, et al (2001). The response to an oral glucose load alters with genetic aetiology in Maturity-Onset Diabetes of the Young. DIABETOLOGIA, 44, A64-A64. Author URL.
Frayling TM, Hattersley AT (2001). The role of genetic susceptibility in the association of low birth weight with type 2 diabetes. Br Med Bull, 60, 89-101. Abstract. Author URL.
Minton J, Hattersley A, Frayling T, Barrett T (2001). Variations in the WFS1 (Wolfram syndrome) gene are not associated with type 2 diabetes. DIABETOLOGIA, 44, A95-A95. Author URL.
Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, et al (2001). β-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors. Diabetes, 50(SUPPL. 1). Abstract.
Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT, et al (2001). β-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations. Diabetes, 50(SUPPL. 1). Abstract.
Ellard S, Beards F, Allen LI, Shepherd M, Ballantyne E, Harvey R, Hattersley AT (2000). A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia, 43(2), 250-253. Abstract. Author URL.
Tack CJ, Ellard S, Hattersley AT (2000). A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1alpha mutation. Diabetes Care, 23(3), 424-425. Author URL.
Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, et al (2000). Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int, 57(3), 898-907. Abstract. Author URL.
Huxtable SJ, Saker PJ, Haddad L, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI, et al (2000). Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles. Diabetes, 49(1), 126-130. Abstract. Author URL.
Owen K, Bingham C, Ellard S, Allen LIS, Bulman MP, Jones RWA, Woolf AS, Nicholls AJ, Hattersley AT (2000). Autosomal dominant renal cysts and diabetes (RCAD): a novel syndrome of diabetes and cystic kidney disease resulting from hepatocyte nuclear factor - 1 beta gene mutations. Diabetes Research and Clinical Practice, 50
Fegan G, Ward D, Clarke L, MacLeod K, Hattersley A (2000). Cardiovascular prevention in type 2 diabetes mellitus, Are we succeeding?. Diabetes Research and Clinical Practice, 50, 305-306.
Egan JM, Clocquet AR, Greig NH, Hattersley AT, Habener JF, Tack CJ, Elahi D (2000). Decreased insulin secretion in response to glucose and GLP-1 in MODY-3. DIABETOLOGIA, 43, A17-A17. Author URL.
Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LIS, Bulman MP, Ayers S, Shepherd M, Clark P, Millward A, et al (2000). Erratum: Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes (Journal of Clinical Investigation (2000) 104 (R33-R39)). Journal of Clinical Investigation, 106(5).
Cassell PG, Saker PJ, Huxtable SJ, Kousta E, Jackson AE, Hattersley AT, Frayling TM, Walker M, Kopelman PG, Ramachandran A, et al (2000). Evidence that single nucleotide polymorphism in the uncoupling protein 3 (UCP3) gene influences fat distribution in women of European and Asian origin. Diabetologia, 43(12), 1558-1564. Abstract. Author URL.
Spyer G, Allen L, Macleod KM, Ellard S, Hattersley AT (2000). Fetal genotype is the primary determinant of fetal growth in gestational diabetes due to a mutation in the maternal glucokinase gene. DIABETES, 49, A4-A4. Author URL.
Lee BC, Shore AC, Humphreys JM, Hattersley AT, Tooke JE (2000). Flow related dilation in subjects with a genetic predisposition to Type 2 diabetes. DIABETOLOGIA, 43, A275-A275. Author URL.
Campbell SC, Shepherd L, Groop L, Hattersley AT, Macfarlane WM (2000). Functional analysis of mutations in PDX1 found in patients with type II diabetes. Diabetes Research and Clinical Practice, 50
Shepherd M, Sparkes AC, Hattersley A (2000). Genetic testing in maturity onset diabetes of the young (MODY): a new challenge for the diabetic clinic. Practical Diabetes, 18(1), 16-21.
Spyer G, Hattersley AT, Mitchell KS, Amiel SA, MacLeod KM (2000). Glucokinase plays a critical role in the sensing of hypoglycaemia: Evidence from patients with glucokinase mutations. DIABETES, 49, A132-+. Author URL.
Fukui M, Nakamura N, Kondo M, Abbott J, Hope K, Nair S, Proctor P, Scott K, Spyer G, Ellard S, et al (2000). Growth-hormone treatment and risk of diabetes (multiple letters). Lancet, 355(9218), 1912-1913.
Spyer G, Ellard S, Hattersley A (2000). Growth-hormone treatment and risk of diabetes. Lancet, 355(9218), 1913-1914. Author URL.
Bingham C, Nicholls AJ, Hattersley AT (2000). Heterogeneity in the clinical course of patients with Type 2 diabetes on dialysis--the need for different preventative strategies. Diabet Med, 17(9), 685-686. Author URL.
Spyer G, Hattersley AT, MacDonald IA, Amiel S, MacLeod KM (2000). Hypoglycaemic counter-regulation at normal blood glucose concentrations in patients with well controlled type-2 diabetes. Lancet, 356(9246), 1970-1974. Abstract. Author URL.
Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M (2000). Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios. Diabetologia, 43(3), 384-385. Author URL.
Velho G, Hattersley AT, Froguel P (2000). Maternal diabetes alters birth weight in glucokinase-deficient (MODY2) kindred but has no influence on adult weight, height, insulin secretion or insulin sensitivity. Diabetologia, 43(8), 1060-1063. Abstract. Author URL.
Velho G, Hattersley AT, Froguel P (2000). Maternal diabetes, birth weight and adult weight, insulin secretion and sensitivity in MODY2 kindreds. DIABETOLOGIA, 43, A81-A81. Author URL.
Yajnik CS, Bhat DS, Rege S, Lubree H, Chopra SM, Naik S, Frayling T, Hattersley A (2000). Maternally inherited diabetes and deafness (MIDD) syndrome is associated with poor fetal outcome and a reduced post-natal growth. Diabetes Research and Clinical Practice, 50
Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayers S, Shepherd M, Clark P, Millward A, et al (2000). Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest, 106(5). Author URL.
Turnpenny P, Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Hattersley AT, Ellard S (2000). Multiple vertebral segmentation defects in spondylocostal dysostosis are caused by mutations in the human Delta homologue DLL3, a somite boundary gene in the Notch signalling pathway. JOURNAL OF MEDICAL GENETICS, 37, S24-S24. Author URL.
Tumpenny PD, Bulman MP, Kusumi K, Frayling TM, Duncan J, McKeown C, Garrett C, Krumlauf R, Hattersley AT, Ellard S, et al (2000). Mutations in the human <i>Delta</i> homologue, <i>DLL3</i>, a <i>Notch</i> signaling pathway gene, disrupt somite boundary formation in spondylocostal dysostosis, which demonstrates both clinical and genetic heterogeneity. AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 13-13. Author URL.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD, et al (2000). Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet, 24(4), 438-441. Abstract. Author URL.
Lausen J, Thomas H, Lemm I, Bulman M, Borgschulze M, Lingott A, Hattersley AT, Ryffel GU (2000). Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degree. Nucleic Acids Res, 28(2), 430-437. Abstract. Author URL.
Frayling TM, McCarthy MI, Walker M, Levy JC, O'Rahilly S, Hitman GA, Rao PV, Bennett AJ, Jones EC, Menzel S, et al (2000). No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians. J Clin Endocrinol Metab, 85(2), 853-857. Abstract. Author URL.
Shepherd M, Hattersley AT, Sparkes AC (2000). Predictive genetic testing in diabetes: a case study of multiple perspectives. Qual Health Res, 10(2), 242-259. Abstract. Author URL.
Ellard S, Bulman MP, Frayling TM, Shepherd M, Hattersley AT (2000). Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY). Hum Mutat, 16(3). Abstract. Author URL.
Bulman MP, Ellard S, Hattersley AT (2000). R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. Diabetologia, 43(9). Author URL.
Vaxillaire M, Chèvre JC, Benmezroua Y, Lecoeur C, Dina C, Costa A, Conget I, Hansen T, Frayling T, Hattersley AT, et al (2000). Search for new genetic determinants of early-onset type 2 diabetes:: Genetic and clinical dissection of MODY-like inherited diabetes. DIABETOLOGIA, 43, A81-A81. Author URL.
Permutt MA, Hattersley AT (2000). Searching for type 2 diabetes genes in the post-genome era. Trends Endocrinol Metab, 11(9), 383-393. Abstract. Author URL.
Pearson ER, Liddell WG, Shepherd M, Corrall RJ, Hattersley AT (2000). Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med, 17(7), 543-545. Abstract. Author URL.
McCarthy MI, Hattersley AT, Walker M, Hitman GA, Levy JC, O'Rahilly S, Lathrop GM, Simecek N, Wishart M, Dhillon R, et al (2000). The BDA Warren Type 2 Diabetes Sibpair Repository: Susceptibility regions identified by genome scan of 439 European families. DIABETOLOGIA, 43, A50-A50. Author URL.
McCarthy M, Hattersley A, Walker M, Hitman G, Levy J, O'Rahilly S, Lathrop M, Simecek N, Wishart M, Dhillon R, et al (2000). The British Diabetic Association Warren Type 2 Diabetes Sibpair Repository: Interim report on a genome-wide scan for linkage in 439 European sibpair families. DIABETES, 49, A199-A199. Author URL.
Fegan G, Ward D, Clarke L, MacLeod K, Hattersley A (2000). The HOPE study and diabetes. LANCET, 355(9210), 1182-1183. Author URL.
Fegan G, Ward D, Clarke L, MacLeod K, Hattersley A (2000). The HOPE study and diabetes. Heart Outcomes Prevention Evaluation. Lancet, 355(9210), 1182-1183. Author URL.
Wild W, Pogge von Strandmann E, Nastos A, Senkel S, Lingott-Frieg A, Bulman M, Bingham C, Ellard S, Hattersley AT, Ryffel GU, et al (2000). The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. Proc Natl Acad Sci U S A, 97(9), 4695-4700. Abstract. Author URL.
Frayling TM, Evans JC, Ellard S, Hattersley AT (2000). Transmission disequilibrium at the calpain10/NIDDM1 gene in UK Caucasian type 2 diabetes parent-offspring trios. DIABETES, 49, A8-A8. Author URL.
Pearson ER, Hattersley AT (2000). Unravelling the heterogeneity of non insulin dependent diabetes. J R Coll Physicians Lond, 34(4), 332-335. Author URL.
Eliard S, Bingham C, Allen LIS, Bulman MP, Frayling TM, Shepherd M, Berry P, Hattersley AT (1999). A 5bp deletion in the hepatocyte nuclear factor 1-beta gene is associated with diabetes and renal dysfunction. JOURNAL OF MEDICAL GENETICS, 36, S62-S62. Author URL.
Hattersley AT, Bingham C, Shepard M, Allen LI, Berry P, Bulman M, Frayling TM, Ellard S (1999). A frameshift mutation in hepatocyte nuclear factor 1β cause diabetes by β cell dysfunction and renal dysfunction by abnormal nephron development. DIABETES, 48, A33-A33. Author URL.
Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S (1999). A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet, 65(1), 175-182. Abstract. Author URL.
Ellard S, Bulman MP, Frayling TM, Allen LI, Dronsfield MJ, Tack CJ, Hattersley AT (1999). Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes, 48(4), 921-923. Author URL.
Powell DS, Maksoud H, Hattersley AT, Chargé SBP, Matthews DR, Levy JC, Stratton IM, Clark A (1999). Apolipoprotein E genotype is not associated with islet amyloid as assessed by disease severity in type 2 diabetes. DIABETOLOGIA, 42, A146-A146. Author URL.
Hattersley A (1999). Can molecular genetics help in the clinic?. Diabet Med, 16(9), 788-791. Author URL.
Frayling TM, Evans JC, Allen LIS, Macfarlane W, Docherty K, Milward A, Demaine A, Wilkin TJ, Ayres S, Clark P, et al (1999). Functional missense mutations in the insulin promoter factor 1 (IPF1) gene predispose to type 2 diabetes. DIABETES, 48, A33-A33. Author URL.
Lee BC, Appleton M, Shore AC, Tooke JE, Hattersley AT (1999). Impaired maximum microvascular hyperaemia in patients with MODY 3 (hepatocyte nuclear factor-1alpha gene mutations). Diabet Med, 16(9), 731-735. Abstract. Author URL.
Lynn S, Hattersley AT, McCarthy MI, Frayling TM, Turnbull DM, Walker M (1999). Intermediate GAA repeat expansions of the X25/frataxin gene in type 2 diabetes. DIABETOLOGIA, 42, A120-A120. Author URL.
Lemm I, Lingott A, Pogge v Strandmann E, Zoidl C, Bulman MP, Hattersley AT, Schulz WA, Ebert T, Ryffel GU (1999). Loss of HNF1alpha function in human renal cell carcinoma: frequent mutations in the VHL gene but not the HNF1alpha gene. Mol Carcinog, 24(4), 305-314. Abstract. Author URL.
Tooke JE, Lee BC, Humphreys JM, Hattersley AT, Shore AC (1999). Microvascular function and features of insulin resistance syndrome in healthy adults. DIABETOLOGIA, 42, A325-A325. Author URL.
Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, et al (1999). Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest, 104(9), R33-R39. Abstract. Author URL.
Miedzybrodzka Z, Hattersley AT, Ellard S, Pearson D, de Silva D, Harvey R, Haites N (1999). Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing. Eur J Hum Genet, 7(6), 729-732. Abstract. Author URL.
Frayling TM, Walker M, McCarthy MI, Evans JC, Allen LI, Lynn S, Ayres S, Millauer B, Turner C, Turner RC, et al (1999). Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. Diabetes, 48(12), 2475-2479. Abstract. Author URL.
Frayling TM, Mccarthy M, Walker M, Evans JC, Allen LIS, Ayres S, Ellard S, Hattersley AT (1999). The collection of Type 2 diabetics with both parents alive to facilitate the identification of susceptibility genes: the BDA Warren 2 Type 2 diabetes Trios. DIABETES, 48, A402-A402. Author URL.
Heward JM, Allahabadia A, Armitage M, Hattersley A, Dodson PM, Macleod K, Carr-Smith J, Daykin J, Daly A, Sheppard MC, et al (1999). The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. J Clin Endocrinol Metab, 84(7), 2398-2401. Abstract. Author URL.
Hattersley AT, Tooke JE (1999). The fetal insulin hypothesis: an alternative explanation of the association of low birthweight with diabetes and vascular disease. Lancet, 353(9166), 1789-1792. Abstract. Author URL.
Huxtable SJ, Saker PJ, Walker M, Frayling TM, Levy JC, Hitman GA, O'Rahilly S, Hattersley AT, McCarthy MI (1999). The insulin gene and type 2 diabetes: Evidence for linkage and association mediated exclusively by paternally-derived alleles. DIABETOLOGIA, 42, A20-A20. Author URL.
McCarthy MI, Saker PJ, Hattersley AT, Frayling T, Walker M, Turner R, O'Rahilly S, Hitman G, Rao PS (1999). Type 2 diabetes and the human homolog of the rat insulin resistance gene, CD36: No linkage or association in Europeans. DIABETOLOGIA, 42, A118-A118. Author URL.
Saker PJ, Huxtable AT, Hattersley AT, Walker M, Frayling T, Kousta E, McCarthy M (1999). Variation in the gene for the skeletal muscle uncoupling protein (UCP3): a novel promoter variant influencing fat distribution. DIABETOLOGIA, 42, A119-A119. Author URL.
Saker P, Hattersley A, Walker M, Frayling T, Wahid F, Cooper L, Scott J, Aitman T, Mccarthy MI (1999). Variation in the human homolog of the rodent insulin-resistance gene, <i>Cd36</i>, and susceptibility to type 2 diabetes. DIABETES, 48, A406-A406. Author URL.
Lee BC, Shore AC, Humphreys JM, Hattersley AT, Tooke JE (1999). Vascular function and ageing in subjects with a genetic predisposition to type 2 diabetes. DIABETOLOGIA, 42, A325-A325. Author URL.
Frayling T, Ellard S, Grove J, Walker M, Hattersley AT (1998). C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet, 351(9120), 1933-1934. Author URL.
Matyka KA, Beards F, Appleton M, Ellard S, Hattersley A, Dunger DB (1998). Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. Arch Dis Child, 78(6), 552-554. Abstract. Author URL.
Aldersley MA, Allgar V, Howdle PD, Markham AF, Frayling T, Ellard S, Ayres S, Ayres R, Hattersley AT (1998). Haemochromatosis and type 2 diabetes (multiple letters) [5]. Lancet, 352(9133), 1067-1068.
Frayling T, Ellard S, Ayres S, Ayres R, Hattersley AT (1998). Haemochromatosis and type 2 diabetes - Reply. LANCET, 352(9133), 1068-1068. Author URL.
Lee BC, Appleton M, Shore AC, Tooke JE, Hattersley AT (1998). Impaired maximum microvascular hyperaemia in subjects with MODY3. DIABETES, 47, A347-A347. Author URL.
Hattersley AT (1998). Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity (vol 15, pg 15, 1998). DIABETIC MEDICINE, 15(5), 437-437. Author URL.
Hattersley AT (1998). Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity. Diabet Med, 15(1), 15-24. Abstract. Author URL.
Lee BC, Humphreys JM, Shore AC, Hattersley AT, Tooke JE (1998). Microvascular blood flow in non-diabetic offspring of two NIDDM parents. JOURNAL OF VASCULAR RESEARCH, 35, 24-24. Author URL.
Lee BC, Humphreys JM, Shore AC, Hattersley AT, Tooke JE (1998). Microvascular hyperaemia in non-diabetic offspring of two NIDDM parents. DIABETES, 47, A346-A346. Author URL.
Lee BC, Humphreys JM, Shore AC, Hattersley AT, Tooke JE (1998). Microvascular vasodilatory reserve in non-diabetic offspring of two NIDDM parents. DIABETOLOGIA, 41, A223-A223. Author URL.
Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT (1998). Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes, 47(7), 1152-1154. Author URL.
Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S (1998). Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet, 19(3), 268-270. Abstract. Author URL.
Frayling T, Beards F, Bulman M, Appleton M, Ellard S, Hattersley AT (1998). Mutations in the hepatocyte nuclear factor 1-beta (HNF-1β) gene are not a common cause of UK maturity onset diabetes of the young (MODY). DIABETES, 47, A173-A173. Author URL.
Hattersley A, Appleton M, Ellard S, Frayling T, Bulman M, Tack C, Clark P (1998). Phenotypic determinants in hepatocyte nuclear factor 1α (HNf1α) mutations. DIABETES, 47, A179-A179. Author URL.
Tack CJ, Hattersley AT (1998). [A Dutch family with an autosomal dominant form of diabetes mellitus as a result of a mutation in the HNF1 alpha-gene (MODY3)]. Ned Tijdschr Geneeskd, 142(41), 2252-2256. Abstract. Author URL.
Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT (1997). A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. Diabetologia, 40(7), 859-862. Abstract. Author URL.
Frayling T, Bulman M, Ellard S, Appleton M, Dronsfield MJ, Bain SC, Bell GI, Hattersley AT (1997). A mutational hotspot in the poly-C tract of exon 4 of the hepatic nuclear factor 1alpha gene; Screening in Maturity Onset Diabetes of the Young. DIABETOLOGIA, 40, 18-18. Author URL.
Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S (1997). A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum Genet, 101(3), 351-354. Abstract. Author URL.
Stewart EA, McKusick KB, Aggarwal A, Bajorek E, Brady S, Chu A, Fang N, Hadley D, Harris M, Hussain S, et al (1997). An STS-based radiation hybrid map of the human genome. Genome Res, 7(5), 422-433. Abstract. Author URL.
Lee BC, Appleton M, Taylor D, Jacob J, Hattersley AT, Shore AC, Tooke JE (1997). Assessment of retinopathy and colour vision in maturity-onset diabetes of the young. DIABETOLOGIA, 40, 1988-1988. Author URL.
Appleton M, Ellard S, Bulman M, Frayling T, Page R, Hattersley AT (1997). Clinical characteristics of HNF1 alpha (MODY3) and glucokinase mutations. DIABETOLOGIA, 40, 628-628. Author URL.
Miedzybrodzka Z, Haites N, Pearson D, Hattersley A, deSilva D (1997). Clinical phenotype in a MODY 3 family with a missense mutation in the Hepatic Nuclear Factor 1 gene. JOURNAL OF MEDICAL GENETICS, 34, 529-529. Author URL.
Hattersley AT (1997). Genes versus environment in insulin-dependent diabetes: the phoney war. Lancet, 349(9046), 147-148. Author URL.
Hattersley A (1997). Genetic factors in the aetiology of non-insulin-dependent diabetes. MOLECULAR PATHOGENESIS OF DIABETES MELLITUS, 22, 157-178. Author URL.
Hattersley AT, Clark PM, Page R, Levy JC, Cox L, Hales CN, Turner RC (1997). Glucokinase deficiency results in a beta-cell disorder characterised by normal fasting plasma proinsulin concentrations. Diabetologia, 40(11), 1367-1368. Author URL.
Hattersley AT, Appleton M, Smith SM, Burrows JA, Ellard S, Frayling T, Bulman M, Clark PM (1997). Hepatic nuclear factor 1 alpha mutations result in beta-cell dysfunction. DIABETOLOGIA, 40, 634-634. Author URL.
Frayling T, Bulman M, Ellard S, Appleton M, Dronsfield M, Bain S, Hattersley A (1997). Hepatic nuclear factor 1-alpha (HNF-1 alpha) gene mutations are the commonest cause of maturity onset diabetes of the young in the UK. DIABETES, 46, 683-683. Author URL.
Ellard S, Appleton M, Turnpenny PD, Hattersley AT (1997). Identification of a balanced translocation t (3;20) (p21.2;q12) at the chromosomal location (20q12) of the HNF-4 alpha gene in a family with maturity-onset diabetes of the young (MODY). DIABETOLOGIA, 40, 620-620. Author URL.
Ellard S, Bulman MP, Frayling TM, Beards FE, Appleton M, Hattersley AT (1997). Mutation analysis in maturity-onset diabetes of the young (MODY). JOURNAL OF MEDICAL GENETICS, 34, SP15-SP15. Author URL.
Bulman MP, Frayling T, Ellard S, Appleton M, Dronsfield MJ, Bell GI, Bain SC, Hattersley AT (1997). Mutations in the hepatic nuclear factor 1 alpha in maturity-onset diabetes of the young. DIABETOLOGIA, 40, 618-618. Author URL.
Frayling TM, Bulamn MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, et al (1997). Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes, 46(4), 720-725. Abstract. Author URL.
Cassell P, Saker PJ, Armstrong M, Kumarajeewa T, Turner RC, ORahilly S, Walker M, Hattersley AT, Hitman GA, McCarthy MI, et al (1997). No evidence for excess allele-sharing on chromosome 2q (region of NIDDM1) in a large sibship collection. DIABETOLOGIA, 40, 613-613. Author URL.
McCarthy M, Cassell P, Saker P, Armstrong M, Turner R, ORahilly S, Walker M, Hattersley A, Hitman G (1997). No excess allele-sharing on chromosome 2q (region of NIDDM1) in a large European sibship collection. DIABETES, 46, 201-201. Author URL.
Smith PR, Dronsfield MJ, Mijovic CH, Hattersley AT, Yeung VT, Cockram C, Chan JC, Barnett AH, Bain SC (1997). The mitochondrial tRNA[Leu(UUR)] a to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population. Diabet Med, 14(12), 1026-1031. Abstract. Author URL.
Saker PJ, Hattersley AT, Barrow B, Hammersley MS, Horton V, Gillmer MD, Turner RC (1997). UKPDS 21: low prevalence of the mitochondrial transfer RNA gene (tRNA(Leu(UUR))) mutation at position 3243bp in UK Caucasian type 2 diabetic patients. Diabet Med, 14(1), 42-45. Abstract. Author URL.
Byrne MM, Sturis J, Menzel S, Yamagata K, Fajans SS, Dronsfield MJ, Bain SC, Hattersley AT, Velho G, Froguel P, et al (1996). Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on chromosome 12. Diabetes, 45(11), 1503-1510. Abstract. Author URL.
Byrne M, Sturis J, Menzel S, Fajans SF, Dronsfield M, Bain S, Hattersley A, Velho G, Froguel P, Polonsky K, et al (1996). Altered insulin secretory responses to glucose in subjects with mutations in the MODY3 gene on chromosome 12q. DIABETES, 45, 273-273. Author URL.
Dunger D, Lloyd DJ, Bobrow M, Gale E, Howell S, Johnston D, Keen H, Wilkin T, Hattersley A, Marteau T, et al (1996). Ethical issues in research into prevention of insulin-dependent diabetes mellitus (IDDM). DIABETIC MEDICINE, 13(5), 399-400. Author URL.
Saker PJ, Hattersley AT, Barrow B, Hammersley MS, McLellan JA, Lo YM, Olds RJ, Gillmer MD, Holman RR, Turner RC, et al (1996). High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population. Diabetologia, 39(11), 1325-1328. Abstract. Author URL.
Hattersley AT (1996). Influence of misleading publications on general practitioners and purchasers. Lancet, 348(9023), 343-344. Author URL.
Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, et al (1996). Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3). Nature, 384(6608), 455-458. Abstract. Author URL.
Zhang Y, Warren-Perry M, Saker PJ, Hattersley AT, Mackie AD, Baird JD, Greenwood RH, Stoffel M, Bell GI, Turner RC, et al (1995). Candidate gene studies in pedigrees with maturity-onset diabetes of the young not linked with glucokinase. Diabetologia, 38(9), 1055-1060. Abstract. Author URL.
Page RC, Hattersley AT, Levy JC, Barrow B, Patel P, Lo D, Wainscoat JS, Permutt MA, Bell GI, Turner RC, et al (1995). Clinical characteristics of subjects with a missense mutation in glucokinase. Diabet Med, 12(3), 209-217. Abstract. Author URL.
SAKER PJ, HATTERSLEY AT, WARRENPERRY MG, STRATTON IM, TURNER RC (1995). MITOCHONDRIAL-DNA MUTATION IN THE TRANSFER-RNA(LEU UUR) AT 3243BP IN UK CAUCASIAN NIDDM SUBJECTS WITH CLINICAL CHARACTERISTICS. DIABETOLOGIA, 38, A35-A35. Author URL.
HATTERSLEY AT, DRONSFIELD M, TACK CJ, BAIN S, BARTLETT WA (1995). MODY-3 IS a BETA-CELL DISORDER THAT CAN BE DETECTED IN NONDIABETIC GENETICALLY SUSCEPTIBLE SUBJECTS. DIABETOLOGIA, 38, A60-A60. Author URL.
Hadley D, Hoff M, Holik J, Reimherr F, Wender P, Coon H, Byerley WF (1995). Manic-depression and the norepinephrine transporter gene. Human Heredity, 45(3), 165-168. Abstract.
Meeran K, Hattersley A, Burrin J, Shiner R, Ibbertson K (1995). Oral and inhaled corticosteroids reduce bone formation as shown by plasma osteocalcin levels. Am J Respir Crit Care Med, 151(2 Pt 1), 333-336. Abstract. Author URL.
McLellan JA, Barrow BA, Levy JC, Hammersley MS, Hattersley AT, Gillmer MD, Turner RC (1995). Prevalence of diabetes mellitus and impaired glucose tolerance in parents of women with gestational diabetes. Diabetologia, 38(6), 693-698. Abstract. Author URL.
Fang N, Coon H, Hoff M, Holik J, Hadley D, Reimherr F, Wender P, Myles-Worsley M, Waldo M, Freedman R, et al (1995). Search for a schizophrenia susceptibility gene on chromosome 18. Psychiatric Genetics, 5(1), 31-35. Abstract.
Turner RC, Hattersley AT, Shaw JT, Levy JC (1995). Type II diabetes: clinical aspects of molecular biological studies. Diabetes, 44(1), 1-10. Abstract. Author URL.
WARRENPERRY MG, ZHANG Y, SAKER PJ, COOK J, HATTERSLEY AT, LO D, STOFFEL M, TURNER RC (1994). A LINKAGE STUDY OF HEXOKINASE-II, GLUCAGON-LIKE PEPTIDE1 RECEPTOR, INSULIN-RECEPTOR SUBSTRATE-1 AND GLUCOKINASE GENES IN TYPE-2 DIABETIC NUCLEAR FAMILIES. DIABETOLOGIA, 37, A87-A87. Author URL.
O'Rahilly S, Hattersley A, Vaag A, Gray H (1994). Insulin resistance as the major cause of impaired glucose tolerance: a self-fulfilling prophesy?. Lancet, 344(8922), 585-589. Abstract. Author URL.
SAKER PJ, HATTERSLEY AT, BARROW B, MCLELLAN JA, LO YMD, OLDS RJ, GILLMER MD, TURNER RC (1994). MUTATIONS IN THE GLUCOKINASE GENE CONTRIBUTE TO THE PATHOGENESIS OF GESTATIONAL DIABETES. DIABETOLOGIA, 37, A17-A17. Author URL.
ZHANG Y, WARRENPERRY MG, SAKER PJ, HATTERSLEY AT, LO D, STOFFEL M, TURNER RC (1994). NON LINKAGE OF HEXOKINASE-II, GLUCAGON-LIKE PEPTIDE-1 RECEPTOR AND ADENOSINE-DEAMINASE GENES WITH DIABETES IN MODY FAMILIES. DIABETOLOGIA, 37, A87-A87. Author URL.
Zhang Y, Cook JT, Hattersley AT, Firth R, Saker PJ, Warren-Perry M, Stoffel M, Turner RC (1994). Non-linkage of the glucagon-like peptide 1 receptor gene with maturity onset diabetes of the young. Diabetologia, 37(7), 721-724. Abstract. Author URL.
Cook JT, Shields DC, Page RC, Levy JC, Hattersley AT, Shaw JA, Neil HA, Wainscoat JS, Turner RC (1994). Segregation analysis of NIDDM in Caucasian families. Diabetologia, 37(12), 1231-1240. Abstract. Author URL.
LERVANG HH, HATTERSLEY A (1994). THE 11TH ANGLO-DANISH-DUTCH-DIABETES-GROUP MEETING. DIABETIC MEDICINE, 11(2), 218-219. Author URL.
Lervang HH, Hattersley A (1994). The Eleventh Anglo-Danish-Dutch Diabetes Group Meeting. Diabet Med, 11(2), 218-219. Author URL.
Hattersley AT, Meeran K, Burrin J, Hill P, Shiner R, Ibbertson HK (1994). The effect of long- and short-term corticosteroids on plasma calcitonin and parathyroid hormone levels. Calcif Tissue Int, 54(3), 198-202. Abstract. Author URL.
SAKER PJ, BARROW B, MCLELLAN JA, HAMMERSLEY MS, LO YMD, GILLMER MD, TURNER RC, HATTERSLEY AT (1993). A MISSENSE MUTATION IN EXON-B OF THE GLUCOKINASE GENE IN GESTATIONAL DIABETIC SUBJECTS. DIABETOLOGIA, 36, A84-A84. Author URL.
Cook JT, Levy JC, Page RC, Shaw JA, Hattersley AT, Turner RC (1993). Association of low birth weight with beta cell function in the adult first degree relatives of non-insulin dependent diabetic subjects. BMJ, 306(6873), 302-306. Abstract. Author URL.
Cook JT, Page RC, O'Rahilly S, Levy J, Holman R, Barrow B, Hattersley AT, Shaw AG, Wainscoat JS, Turner RC, et al (1993). Availability of type II diabetic families for detection of diabetes susceptibility genes. Diabetes, 42(10), 1536-1543. Abstract. Author URL.
Cook JT, Hattersley AT, Levy JC, Patel P, Wainscoat JS, Hockaday TD, Turner RC (1993). Distribution of type II diabetes in nuclear families. Diabetes, 42(1), 106-112. Abstract. Author URL.
GIDHJAIN M, TAKEDA J, XU LZ, LANGE AJ, VIONNET N, STOFFEL M, FROGUEL P, VELHO G, SUN F, COHEN D, et al (1993). GLUCOKINASE MUTATIONS ASSOCIATED WITH NON-INSULIN-DEPENDENT (TYPE-2) DIABETES-MELLITUS HAVE DECREASED ENZYMATIC-ACTIVITY - IMPLICATIONS FOR STRUCTURE-FUNCTION-RELATIONSHIPS. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 90(5), 1932-1936. Author URL.
MCLELLAN JAS, HAMMERSLEY MS, BARROW BA, HATTERSLEY AT, LEVY JC, GILLMER MDG, TURNER RC (1993). IDENTIFYING NUCLEAR FAMILIES IN WOMEN WITH PREVIOUS GESTATIONAL DIABETES - PREVALENCE OF TYPE-2 NON-INSULIN-DEPENDENT DIABETES IN THE PARENTS. DIABETOLOGIA, 36, A169-A169. Author URL.
Hattersley AT, Saker PJ, Patel P, Lo YM, Page R, O'Rahilly S, Turner RC, Permutt MA, Wainscoat JS (1993). Linkage of maturity-onset diabetes of the young to the glucokinase gene--evidence of genetic heterogeneity. Biochem Soc Trans, 21(1). Author URL.
HATTERSLEY AT, CLARK PM, COOK JTE, LEVY JC, COX L, HALES CN, TURNER RC (1993). MATURITY-ONSET DIABETES OF THE YOUNG IS a BETA-CELL DISORDER WITH NORMAL PROINSULIN LEVELS. DIABETOLOGIA, 36, A67-A67. Author URL.
Hattersley AT, Saker PJ, Cook JT, Stratton IM, Patel P, Permutt MA, Turner RC, Wainscoat JS (1993). Microsatellite polymorphisms at the glucokinase locus: a population association study in Caucasian type 2 diabetic subjects. Diabet Med, 10(8), 694-698. Abstract. Author URL.
Hattersley AT, Turner RC (1993). Mutations of the glucokinase gene and type 2 diabetes. Q J Med, 86(4), 227-232. Author URL.
HATTERSLEY A (1993). THE 10TH ANGLO-DANISH-DUTCH-DIABETES-GROUP MEETING. DIABETIC MEDICINE, 10(2), 187-187. Author URL.
Meeran K, Hattersley A, Mould G, Bloom SR (1993). Venepuncture causes rapid rise in plasma ACTH. Br J Clin Pract, 47(5), 246-247. Abstract. Author URL.
Mehal WZ, Hattersley AT, Chapman RW, Fleming KA (1992). A survey of cytomegalovirus (CMV) DNA in primary sclerosing cholangitis (PSC) liver tissues using a sensitive polymerase chain reaction (PCR) based assay. J Hepatol, 15(3), 396-399. Abstract. Author URL.
Page R, Hattersley A, Turner R (1992). Beta-cell secretory defect caused by mutations in glucokinase gene. Lancet, 340(8828), 1162-1163. Author URL.
PAGE RCL, HATTERSLEY AT, BARROW B, PATEL P, WAINSCOAT JS, PERMUTT MA, TURNER RC (1992). CLINICAL CHARACTERISTICS OF TYPE-2 DIABETES LINKED TO THE GLUCOKINASE GENE. DIABETOLOGIA, 35, A62-A62. Author URL.
HATTERSLEY AT, LO YMD, READ SJ, EGLIN RP, WAINSCOAT JS, CLARK A (1992). FAILURE TO DETECT CYTOMEGALOVIRUS DNA IN PANCREAS IN TYPE-2 DIABETES. LANCET, 339(8789), 335-336. Author URL.
Hattersley AT, Lo YM, Read SJ, Eglin RP, Wainscoat JS, Clark A (1992). Failure to detect cytomegalovirus DNA in pancreas in type 2 diabetes. Lancet, 339(8791), 459-460. Abstract. Author URL.
Cook JT, Hattersley AT, Christopher P, Bown E, Barrow B, Patel P, Shaw JA, Cookson WO, Permutt MA, Turner RC, et al (1992). Linkage analysis of glucokinase gene with NIDDM in Caucasian pedigrees. Diabetes, 41(11), 1496-1500. Abstract. Author URL.
Patel P, Lo YM, Hattersley A, Bell GI, Tybjaerg-Hansen A, Nerup J, Turner RC, Wainscoat JS (1992). Linkage analysis of maturity-onset diabetes of the young with microsatellite polymorphisms. No linkage to ADA or GLUT2 genes in two families. Diabetes, 41(8), 962-967. Abstract. Author URL.
Hattersley AT, Turner RC, Permutt MA, Patel P, Tanizawa Y, Chiu KC, O'Rahilly S, Watkins PJ, Wainscoat JS (1992). Linkage of type 2 diabetes to the glucokinase gene. Lancet, 339(8805), 1307-1310. Abstract. Author URL.
Stoffel M, Patel P, Lo YM, Hattersley AT, Lucassen AM, Page R, Bell JI, Bell GI, Turner RC, Wainscoat JS, et al (1992). Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nat Genet, 2(2), 153-156. Abstract. Author URL.
SAKER PJ, HATTERSLEY AT, PATEL P, STRATTON I, LO YMD, CULL C, PURMUTT MA, TURNER RC, WAINSCOAT JS (1992). THE CONTRIBUTION OF GLUCOKINASE TO TYPE-2 (NON-INSULIN-DEPENDENT) DIABETES - a POPULATION ASSOCIATION STUDY. DIABETOLOGIA, 35, A139-A139. Author URL.
HATTERSLEY AT, PATEL P, LO YMD, PAGE R, COOK JTE, SAKER PJ, TANIZAWA Y, CHIU KC, WATKINS P, TURNER RC, et al (1992). TYPE-2 (NON-INSULIN-DEPENDENT) DIABETES IS LINKED TO THE GLUCOKINASE GENE. DIABETOLOGIA, 35, A62-A62. Author URL.
Turner R, Hattersley A, Cook J (1992). Type II diabetes: search for primary defects. Ann Med, 24(6), 511-516. Abstract. Author URL.
Turner RC, Clark A, Levy J, Hattersley AT, Cook JC (1991). [Insulin secretion in non-insulin-dependent diabetes]. Journ Annu Diabetol Hotel Dieu, 141-151. Author URL.
Hattersley AT, Langley S, Thompson JR, Blackwood RA (1989). Home intravenous diuretic therapy for patient with refractory heart failure. Lancet, 1(8635). Author URL.
Feinstein A, Hattersley A (1988). Ganser symptoms, dissociation, and dysprosody. J Nerv Ment Dis, 176(11), 692-693. Abstract. Author URL.
Hattersley AT, Samuel S (1985). Communicating with photographs in a leprosy hospital in Nepal. Lepr Rev, 56(4), 350-354. Author URL.
Chapters
Resnick BL, Shepherd MH, Hattersley AT (2024). Monogenic Causes of Diabetes. In (Ed) Textbook of Diabetes, Wiley, 273-294.
Houghton JAL, Hattersley AT (2016). PTF1A: Pancreatic and Cerebellar Agenesis. In (Ed) Epstein's Inborn Errors of Development, Oxford University Press (OUP), 899-904.
Evans JC, Frayling TM, Hattersley AT (2011). Clinical Consequences of Defects in β-Cell Genes. In (Ed) Molecular Basis of Pancreas Development and Function, Springer Nature, 325-336.
Hattersley AT (2011). Maturity-onset diabetes of the young. In (Ed) Joslin's Diabetes Mellitus: Fourteenth Edition, 463-476.
Jones AG, Hattersley AT (2011). Monogenic causes of diabetes. In Holt RIG, Cockram C, Flyvbjerg A, Goldstein BJ (Eds.) Textbook of Diabetes, John Wiley & Sons.
Philipson LH, Murphy R, Ellard S, Hattersley AT, Støy J, Greeley SA, Bell GI, Polonsky KS (2010). Chapter 2 Genetic Testing in Diabetes Mellitus a Clinical Guide to Monogenic Diabetes. ABBREVIATIONS: HbA1c, hemoglobin A1c; MODY, maturity-onset diabetes of the young; PNDM, permanent neonatal diabetes; TNDM, transient neonatal diabetes. In (Ed) Genetic Diagnosis of Endocrine Disorders, Elsevier, 17-25.
Velho G, Froguel P, Gloyn A, Hattersley A (2004). Maturity Onset Diabetes of the Young Type 2. In (Ed) Glucokinase and Glycemic Disease: from Basics to Novel Therapeutics, Karger Publishers, 42-64.
Pearson ER, Hattersley AT (2003). Monogenic Disorders of the ��-Cell. In (Ed) International Textbook of Diabetes Mellitus, Wiley.
Conferences
Gloyn AL, MacKay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Sampson M, Knight BA, Levy JC, Owen KR, et al (2005). Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region in type 2 diabetes: a comparative genomic and haplotype approach. Author URL.
Gloyn AL, MacKay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Sampson M, Knight BA, Hattersley AT, Frayling TM, et al (2005). Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region on chromosome 6q24 in type 2 diabetes: a comparative genomic and haplotype approach. Author URL.
Ellard S, Hattersley AT (2005). Defining the genetic aetiology of diabetes can improve treatment. Author URL.
Pearson ER, Flechtner I, Ellard S, Robert JJ, Clark PM, Hamilton-Shield JP, Polak M, Hattersley AT (2005). Insulin independence with sulphonylurea treatment in a series of patients with permanent neonatal diabetes due to heterozygous activating mutations in the KCNJ11 (Kir6.2) gene. Author URL.
Ellard S, Shepherd MH, Hattersley AT (2004). An educational model for the integration of genetics into diabetes care. Author URL.
Groves CJ, Wiltshire S, Walker M, Hitman GA, O'Rahilly S, Hattersley AT, Levy JC, McCarthy MI (2004). Fine mapping of linkage signals identified in the primary genome scan of 573 UK Type 2 diabetes families. Author URL.
Zeggini E, Parkinson J, Groves CJ, Frayling TM, Hitman GA, Walker M, Sampson M, Levy JC, Weedon MN, Wiltshire S, et al (2004). Large-scale association studies of candidate genes and their interactions in Type 2 diabetes. Author URL.
McCarthy MI, Parkinson J, Groves CJ, Frayling TM, Hitman GA, Walker M, Weedon MN, Wiltshire S, Owen KR, Hattersley AT, et al (2004). Large-scale association studies of candidate genes in insulin action: Confirmation of type 2 diabetes susceptibility effects at PPARG and evidence for association at TNF/LTA locus. Author URL.
Gloyn AL, Odili S, Zelent D, Buettger C, Castledon HAJ, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, et al (2004). Maturity-onset diabetes of the young (MODY) caused by a glueoldnase mutation (V62M) which results in defective regulation ofthe enzyme. Author URL.
Gloyn AL, Edghill EL, Pearson ER, Mackay DJG, Temple IK, Shield JPH, Noyes K, Freedenberg D, Gillespie KM, Lambert AP, et al (2004). Multiple subtypes of diabetes are associated with activating mutations in <i>KCNJ11</i>, which encodes the Kir6.2 sub-unit of the beta-cell ATP sensitive potassium (K<sub>ATP</sub>) channel. Author URL.
Porzio O, Massa O, Cunsolo V, Hansen T, Hattersley AT, Njolstad PR, Terrinoni A, Melino G, Federici M, Marchetti P, et al (2004). Mutations of transglutaminase 2 and early onset Type 2 diabetes. Author URL.
McCarthy MI, Groves CJ, Hattersley AT, Walker M, Hitman G, O'Rahilly S, Wiltshire S (2004). Quantitative linkage analysis in a large European type 2 diabetes affected sibship resource provides replication evidence for a locus for obesity mapping to chromosome 10p. Author URL.
Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT (2004). The contrasting diabetes phenotypes of MODY5 (HNF-1beta) and MODY3 (HNF-1alpha). Author URL.
Dobson L, Sheldon CD, Hattersley AT (2004). Understanding cystic-fibrosis-related diabetes: best thought of as insulin deficiency?. Abstract. Author URL.
Frayling TM, Weedon M, Shields B, Knight B, Wilkin T, Voss L, Metcalf B, Davey-Smith G, Ben-Shiomo Y, Leon D, et al (2003). A Common haplotype in the glucokinase gene is associated with increased fasting glucose and altered birth weight. Author URL.
Hattersley AT, Weedon MN, Knight B, Turner M, Metcalf B, Voss L, Wilkin T, Frayling TM (2003). Common genetic variation in glucokinase is associated with increased fasting glucose and altered birth weight: Evidence for the fetal insulin hypothesis. Author URL.
Knight BA, Shields B, Turner M, Wilkins-Wall B, McCammon K, Powell R, Hattersley AT (2003). Fathers matter: Evidence for genetic regulation of birth weight. Author URL.
Gloyn A, Noordam L, Willemsen M, Ellard S, Lam W, Shiota C, Magnuson M, Matschinsky F, Hattersley A (2003). Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations. Author URL.
Shields B, Knight B, Turner M, Wilkins-Wall B, McCammon K, Shakespeare L, Clarke PM, Powell R, Yajnik CS, Hattersley AT, et al (2003). Maternal and paternal influence on insulin mediated growth. Author URL.
Stenhouse E, Wright D, Hattersley A, Millward A (2003). Screening for diabetes in the 21st century - a study to detect gestational diabetes mellitus (GDM) in a cohort of 5824 mothers. Author URL.
Owen K, Frayling T, Hattersley A (2003). The insulin promoter factor-1 polymorphism D76N predisposes to type 2 diabetes. Author URL.
Gloyn AL, Mackay DJG, Shield JP, Temple IK, Robinson DO, Walker M, McCarthy MI, Frayling TM, Hattersley AT (2002). Analysis of the imprinted transient neonatal diabetes critical region (ZAC/HYMAI) locus in Type 2 diabetes parent-offspring trios. Author URL.
Groves CJ, Wiltshire S, Menzel S, Bennett A, Hattersley AT, Frayling TM, Walker M, Levy JC, O'Rahilly S, Hitman GA, et al (2002). Linkage studies of the Type 2 diabetes susceptibility locus on chromosome 1q: Combined analysis of 1200 UK and French affected sibpairs. Author URL.
Vagnarelli F, Magnani C, Vancini A, Mariani S, Banchini G, Cianfarani S, Hattersley AT (2001). A case of neonatal diabetes with a novel glucokinase gene mutation. Author URL.
Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, et al (2001). beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Abstract. Author URL.
Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT, et al (2001). beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. Abstract. Author URL.
Hattersley AT (2000). Diagnosis of maturity-onset diabetes of the young in the pediatric diabetes clinic. Abstract. Author URL.
Fava S, Azzopardi J, Hattersley AT, Watkins PJ (2000). Increased prevalence of proteinuria in diabetic sibs of proteinuric type 2 diabetic subjects. Abstract. Author URL.
Hattersley AT, Ellard S, Shepherd M, Frayling TM, Bulman M, Ballantyne L, Ayres S (2000). Phenotype-genotype relationships in maturity-onset diabetes of the young. Author URL.
Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM (1999). Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) a to G mutation. Abstract. Author URL.
Hattersley A, Page R, Turner R (1995). Clinical characteristics of NIDDM due to glucokinase gene mutation. Author URL.
Clark A, de Koning EJ, Hattersley AT, Hansen BC, Yajnik CS, Poulton J (1995). Pancreatic pathology in non-insulin dependent diabetes (NIDDM). Abstract. Author URL.
External Engagement and Impact
Awards and Honours
020 Baillet Latour Health Prize, Belgium’s top scientific award, for outstanding achievements in biomedical research for the benefit of human health (awarded for metabolic disorders every 5 years)
2018 Banting Memorial Lecture Award:the highest award from Diabetes UK for international eminence in diabetes
2018 Dale Medal: the highest award from Society of Endocrinology for fundamental changes in understanding
2018 Pathologist's Power list most inspirational and influential professionals in laboratory medicine
2017 Commander of the Order of the British Empire (CBE) awarded for services to medical science
2017 Rachmiel Levine Award to honor lifelong contributions to clinical research fields. City of Hope, USA
2016 EASD- Novo Nordisk Foundation Diabetes Prize for Excellence the highest award of the European Association for the Study of Diabetes (EASD)
2016 Royal Society GlaxoSmithKline Prize and Lecture for original contributions to medical sciences
2015 Albert Renold prize lecture for outstanding achievement in research on the islets of Langerhans awarded by the European Association for the Study of Diabetes.
2015 Clinical Endocrinology Trust Award for clinical research at the fore front of clinical practice
2015 The Rolf Luft Award, Karolinska Institute outstanding scientific contribution in diabetes and endocrinology
2014 Naomi Berrie Award for Outstanding Research into Diabetes, University of Columbia, New York USA
2012-2019 National Institute of Heath Research, Senior Investigator Award
201 Society of Endocrinology (USA) Clinical Investigator Award
201 Moxon Medal, for observation and research in clinical medicine, Royal College of Physicians, London
2010 Britain’s top Doctors (one of 6 in Endocrinology) published by the Times
2009 Society for Endocrinology Gold Medal for outstanding research in endocrinology
2007 National Disease Research Interchange (USA): Distinguished Scientist award
2007 Dorothy Hodgkin Prize lecture, Awarded by Diabetes UK for international achievement in diabetes science.
2004 Clinical monogenic diabetes award, European Group for the study of monogenic diabetes
2003 The Joseph Hoet Research Award of the International Diabetes & Pregnancy Study Group for excellence of research in the field of Diabetes and Pregnancy by investigator aged under 50 years
2003 Novartis Award in Diabetes, International award for young clinical investigator in diabetes.
1999 R D Lawrence prize lecture, awarded by Diabetes UK to best young (under 40 years) UK diabetes researcher
Research funding
Major Grants (from of a total of over £92 million from 103 individual grants)
2019-2023 Research England Enabling Excellence in England (E3) PI with 10 co-investigators £5,984,000
2018-2021 NIHR Global Health Research Group on improving outcomes in sub-Saharan African diabetes through better diagnosis and treatment
£2,000,000 Andrew Hattersley Co-PI with Angus jones and Moffat Nyrenda with 8 co-investigators
2017 – 2022 NIHR Funding for Clinical Research Facilities ( Co-PI with 2 others) £5,738,298
2017 – 2020 NIHR Senior Investigator (PI) £45,000 over 3 years.
2016 – 2020 Diabetes UK George Alberti Fellowship for Dr Bowman. £201,133.24 (Main mentor)
2016 – 2017 Helmsley $200,000 1 of 2 co-applicants,
2016-2019 Wellcome Trust Intermediate fellowship– Dr Kash Patel £652,745 (Main supervisor)
2015-2020 Wellcome Trust Sir Henry Dale Research Fellowship £773,545 (Main Mentor)
2015-2020 Medical Research Council Stratification & Extreme Response Mechanism in Diabetes MASTERMIND Extension £3,281,749 (PI with 15 co-applicants)
2015-2016 MRC Clinical Research Capabilities and Technologies Initiative – Accelerated discovery of functional non-coding genomic variation using single molecule real-time (SMRT) sequencing. £1,586,940
2014-2017 JDRF $1,084,726.83
2012-2015 MRC Stratified Medicine, £2,897,589
2012-2019 Wellcome Trust Senior Investigator (joint award with Prof Sian Ellard) £2,870,00
2010-2013 Wellcome Trust Health Innovation Challenge Fund - Using pharmacogenetics to improve treatment in young –onset diabetes. Andrew Hattersley (PI) (with 10 Co-Applicants) £1,643,278
2011-2013 Wellcome Wolfson Capital Bid - Wellcome Wolfson Centre for Translational Medicine, Peninsula College of Medicine and Dentistry. Andrew Hattersley (PI), (with 9 Co-Applicants)
2008-2012 European Union. Collaborative European effort to Develop Diabetes Diagnostics.
PI (with 10 Co-Applicants) €3,000,000, (€670,000 to Exeter)
2005-2009. Medical Research Council Project Grant (GO500073468). Regulation of fasting glucose and birth weight: the impact of variation in the glucokinase gene. £212,000
2006-2011. Department of Health. SW Peninsula Local Diabetes Network PI, £2,000,000..
2006-2010. European Union FP6 Integrated programme. (LSHM-CT-2006-518153) EURODIA. Co-applicant £6,229,609. An integrated European application into the beta-cell in diabetes
2007-2012. Department of Health. Experimental Medicine bid for Exeter (PI,) £3,200,000. Clinical director Experimental medicine program with a strong emphasis on the pathophysiology of diabetes.
2003-2009. Monogenic and Polygenic influences on human fetal growth and development Wellcome Trust Research Leave Award for Clinical Academics £1,129,064. Sole applicant.
