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Professor Andrew Hattersley FRCP FMedSci FRS

Professor Andrew Hattersley FRCP FMedSci FRS

Gillings Chair of Precision Medicine, Professor of Molecular Medicine & Consultant Physician

 +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.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, et al (In Press). A reference panel of 64,976 haplotypes for genotype imputation.  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.
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
Dennis JM, Young KG, McGovern AP, Mateen BA, Vollmer SJ, Simpson MD, Henley WE, Holman RR, Sattar N, Pearson ER, et al (In Press). 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.
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
Koivula RW, Forgie IM, Kurbasic A, Viñuela A, Heggie A, Giordano GN, Hansen TH, Hudson M, Koopman A, Rutters F, et al (In Press). Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: an overview of the data from the epidemiological studies within the IMI DIRECT Consortium.  Abstract.
Evans BD, Słowiński P, Hattersley AT, Jones SE, Sharp S, Kimmitt RA, Weedon MN, Oram RA, Tsaneva-Atanasova K, Thomas NJ, et al (In Press). Estimating population level disease prevalence using genetic risk scores.  Abstract.
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
Thompson WD, Beaumont RN, Kuang A, Warrington NM, Ji Y, Tyrrell J, Wood AR, Scholtens D, Knight BA, Evans DM, et al (In Press). Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight.  Abstract.
Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM, Rayner NW, Steinthorsdottir V, Scott RA, Grarup N, Cook JP, et al (In Press). Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.  Abstract.
Viñuela A, Brown AA, Fernandez J, Hong M-G, Brorsson CA, Koivula RW, Davtian D, Dupuis T, Forgie IM, Adam J, et al (In Press). Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study.  Abstract.
De Silva NMG, Sebert S, Alves AC, Sovio U, Das S, Taal R, Warrington NM, Lewin AM, Kaakinen M, Cousminer D, et al (In Press). 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 (In Press). Heterozygous <i>RFX6</i> protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance.  Abstract.
Thompson WD, Beaumont RN, Kuang A, Warrington NM, Ji Y, Tyrrell J, Wood AR, Scholtens D, Knight BA, Evans DM, et al (In Press). Higher maternal adiposity reduces offspring birth weight if associated with a metabolically favourable profile.  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
Thomas NJ, McGovern A, Young KG, Sharp SA, Weedon MN, Hattersley AT, Dennis J, Jones AG (In Press). Identifying type 1 and 2 diabetes in population level data: assessing the accuracy of published approaches.  Abstract.
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
Evans LM, Tahmasbi R, Jones M, Vrieze SI, Abecasis GR, Das S, Bjelland DW, deCandia TR, Abecasis G, Altshuler D, et al (In Press). Narrow-sense heritability estimation of complex traits using identity-by-descent information.  Abstract.
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
Zeman A, Milton F, Della Sala S, Dewar M, Frayling T, Gaddum J, Hattersley A, Heuerman-Williamson B, Jones K, MacKisack M, et al (In Press). Phantasia - the psychological significance of lifelong visual imagery vividness extremes.  Abstract.
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
Justice AE, Karaderi T, Highland HM, Young KL, Graff M, Lu Y, Turcot V, Auer PL, Fine RS, Guo X, et al (In Press). Protein-Coding Variants Implicate Novel Genes Related to Lipid Homeostasis Contributing to Body Fat Distribution.  Abstract.
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
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, Rayner NW, et al (In Press). Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.  Abstract.
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
Thomas NJ, Walkey HC, Kaur A, Misra S, Oliver NS, Colclough K, Weedon MN, Johnston DG, Hattersley AT, Patel KA, et al (In Press). 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.
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
Masoli JAH, Jeffries A, Temperton B, Auckland C, Michelsen M, Warwick-Dugdale J, Manley R, Farbos A, Ellard S, Knight B, et al (In Press). Viral genetic sequencing identifies staff transmission of COVID-19 is important in a community hospital outbreak.  Abstract.
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
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.
Young KG, McGovern AP, Barroso I, Hattersley AT, Jones AG, Shields BM, Thomas NJ, Dennis JM (2023). Correction to: the impact of population-level HbA1c screening on reducing diabetes diagnostic delay in middle-aged adults: a UK Biobank analysis. Diabetologia, 66(8). Author URL.
Thomas NJ, McGovern A, Young KG, Sharp SA, Weedon MN, Hattersley AT, Dennis J, Jones AG (2023). Corrigendum to 'Identifying type 1 and 2 diabetes in research datasets where classification biomarkers are unavailable: assessing the accuracy of published approaches' [Journal of Clinical Epidemiology (2023) 34-44]. J Clin Epidemiol, 159 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). 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.
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.
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.
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.
Osinga JAJ, Derakhshan A, Feldt-Rasmussen U, Huang K, Vrijkotte TGM, Männistö T, Bassols J, López-Bermejo A, Aminorroaya A, Vafeiadi M, et al (2023). TSH and FT4 reference interval recommendations and prevalence of gestational thyroid dysfunction: quantification of current diagnostic approaches. J Clin Endocrinol Metab 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.
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.
Ji Y, Casanova F, Tyrrell J, Beaumont RN, 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).
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.
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, Grp SS, et al (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.
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.
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.
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.
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.
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.
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.
Ng N, Willems SM, Fernandez J, Fine RS, Wheeler E, Wessel J, Kitajima H, Marenne G, Rundle JK, Sim X, et al (2019). Tissue-Specific Alteration of Metabolic Pathways Influences Glycemic Regulation.
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
Yaghootkar H, Abbasi F, Ghaemi N, Rabbani A, Wakeling MN, Eshraghi P, Enayati S, Vakili S, Heidari S, Patel K, et al (2019). Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population. Diabet Med, 36(12), 1694-1702. Abstract.  Author URL.
Kibirige D, Lumu W, Jones AG, Smeeth L, Hattersley AT, Nyirenda MJ (2019). Understanding the manifestation of diabetes in sub Saharan Africa to inform therapeutic approaches and preventive strategies: a narrative review. Clin Diabetes Endocrinol, 5 Abstract.  Author URL.
Patel KA, Weedon MN, Shields BM, Pearson ER, Hattersley AT, McDonald TJ, UNITED study team (2019). Zinc Transporter 8 Autoantibodies (ZnT8A) and a Type 1 Diabetes Genetic Risk Score can Exclude Individuals with Type 1 Diabetes from Inappropriate Genetic Testing for Monogenic Diabetes. Diabetes Care, 42(2), e16-e17. Author URL.
van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, et al (2018). A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects with Type 2 Diabetes. Diabetes, 67(7), 1414-1427. Abstract.  Author URL.
Grubb A, McDonald T, Rutters F, Donnelly L, Hattersley A, Oram R, Palmer C, van der Heijden A, Carr F, Elders P, et al (2018). A Type 1 Diabetes Genetic Risk Score can Identify Patients with GAD65 Autoantibody–Positive Type 2 Diabetes Who Rapidly Progress to Insulin Therapy. Diabetes Care
Johnson MBJ, Patel K, De Franco E, Houghton J, McDonald T, Ellard S, Flanagan S, Hattersley A (2018). A Type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early onset clustering of polygenic autoimmunity with diabetes. Diabetologia
Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, Hattersley AT, Patel KA, UNITED study (2018). A UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin. Diabetologia, 61(12), 2520-2527. Abstract.  Author URL.
Hernandez AF, Green JB, Janmohamed S, D'Agostino RB, Granger CB, Jones NP, Leiter LA, Rosenberg AE, Sigmon KN, Somerville MC, et al (2018). Albiglutide and cardiovascular outcomes in patients with type 2 diabetes and cardiovascular disease (Harmony Outcomes): a double-blind, randomised placebo-controlled trial. The Lancet, 392(10157), 1519-1529. Abstract.
Shields B, McDonald T, Oram R, Hill A, Hudson M, Leete P, Pearson E, Richardson S, Morgan N, Hattersley A, et al (2018). C-peptide decline in type 1 diabetes has two phases: an initial exponential fall and a subsequent stable phase. Diabetes Care
Clissold RL, Harries LW, Ellard S, Bingham C, Hattersley AT (2018). Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients with Hepatocyte Nuclear Factor 1B (HNF1B) Molecular Defects. Diabetes Care 2017;40:1436-1443. Diabetes Care, 41(1). Author URL.
Knip M, Åkerblom HK, Altaji E, Becker D, Bruining J, Castano L, Danne T, De Beaufort C, Dosch HM, Dupre J, et al (2018). Effect of hydrolyzed infant formula vs conventional formula on risk of type 1 diabetes the TRIGR randomized clinical trial. JAMA - Journal of the American Medical Association, 319(1), 38-48. Abstract.
Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, et al (2018). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol, 6(8), 637-646. Abstract.  Author URL.
Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, et al (2018). Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322. Diabetes, 67(3). Author URL.
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, et al (2018). Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data, 5 Abstract.  Author URL.
Rawshani A, Sattar N, Franzén S, Rawshani A, Hattersley AT, Svensson A-M, Eliasson B, Gudbjörnsdottir S (2018). Excess mortality and cardiovascular disease in young adults with type 1 diabetes in relation to age at onset: a nationwide, register-based cohort study. Lancet, 392(10146), 477-486. Abstract.  Author URL.
Clissold RL, Fulford J, Hudson M, Shields BM, McDonald TJ, Ellard S, Hattersley AT, Bingham C (2018). Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic. Clin Kidney J, 11(4), 453-458. Abstract.  Author URL.
Hughes AE, Nodzenski M, Beaumont RN, Talbot O, Shields BM, Scholtens DM, Knight BA, Lowe WL, Hattersley AT, Freathy RM, et al (2018). Fetal Genotype and Maternal Glucose Have Independent and Additive Effects on Birth Weight. Diabetes, 67(5), 1024-1029. Abstract.  Author URL.
Mahajan A, Taliun D, Thurner M, Robertson NR, Torres JM, Rayner NW, Payne AJ, Steinthorsdottir V, Scott RA, Grarup N, et al (2018). Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. Nat Genet, 50(11), 1505-1513. Abstract.  Author URL.
NJ T, SE J, MN W, BM S, RA O, AT H (2018). Frequency and phenotype of T1DM in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank.
Thomas NJ, Jones SE, Weedon MN, Shields BM, Oram RA, Hattersley AT (2018). Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank. Lancet Diabetes Endocrinol, 6(2), 122-129. Abstract.  Author URL.
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.
Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, et al (2018). Genetic mutations associated with neonatal diabetes mellitus in Omani patients. J Pediatr Endocrinol Metab, 31(2), 195-204. Abstract.  Author URL.
Thomas NJ, Jones SE, Weedon MN, Shields BM, Hattersley AT, Oram RA (2018). Genetic risk scores in adult-onset type 1 diabetes - Authors' reply. Lancet Diabetes Endocrinol, 6(3). Author URL.
Bonifacio E, Beyerlein A, Hippich M, Winkler C, Vehik K, Weedon MN, Laimighofer M, Hattersley AT, Krumsiek J, Frohnert BI, et al (2018). Genetic scores to stratify risk of developing multiple islet autoantibodies and type 1 diabetes: a prospective study in children. PLoS Med, 15(4). Abstract.  Author URL.
Beaumont RN, Warrington NM, Cavadino A, Tyrrell J, Nodzenski M, Horikoshi M, Geller F, Myhre R, Richmond RC, Paternoster L, et al (2018). Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Hum Mol Genet, 27(4), 742-756. Abstract.  Author URL.
Clissold RL, Ashfield B, Burrage J, Hannon E, Bingham C, Mill J, Hattersley A, Dempster EL (2018). Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion. Clin Epigenetics, 10(1). Abstract.  Author URL.
Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, et al (2018). ISPAD Clinical Practice Consensus Guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes, 19 Suppl 27, 47-63.
Sharma A, Liu X, Hadley D, Hagopian W, Chen WM, Onengut-Gumuscu S, Törn C, Steck AK, Frohnert BI, Rewers M, et al (2018). Identification of non-HLA genes associated with development of islet autoimmunity and type 1 diabetes in the prospective TEDDY cohort. Journal of Autoimmunity, 89, 90-100. Abstract.
Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, et al (2018). Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet, 14(5). Abstract.  Author URL.
Savova R, De Franco E, Shaw-Smith C, Georgieva R, Konstantinova M, Archinkova M, Panteleeva E, Kaneva A, Marinov R, Ellard S, et al (2018). Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6. Biotechnology and Biotechnological Equipment, 32(1), 124-129. Abstract.
Warrington NM, Richmond R, Fenstra B, Myhre R, Gaillard R, Paternoster L, Wang CA, Beaumont RN, Das S, Murcia M, et al (2018). Maternal and fetal genetic contribution to gestational weight gain. Int J Obes (Lond), 42(4), 775-784. Abstract.  Author URL.
Chakera AJ, Hurst PS, Spyer G, Ogunnowo-Bada EO, Marsh WJ, Riches CH, Yueh C-Y, Markkula SP, Dalley JW, Cox RD, et al (2018). Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes. Mol Metab, 17, 17-27. Abstract.  Author URL.
De Franco E, Lytrivi M, Patel K, Igoillo-Esteve M, Wakeling M, Haliloglu B, Unal E, Godbole T, Yildiz M, Ellard S, et al (2018). Mutations in YIPF5 are a novel cause of neonatal diabetes, highlighting the critical role of endoplasmic reticulum-to-Golgi trafficking in human beta cell survival. DIABETOLOGIA, 61, S106-S106. Author URL.
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.
Misra S, Vedovato N, Cliff E, De Franco E, Hattersley AT, Ashcroft FM, Oliver NS (2018). Permanent neonatal diabetes: combining sulfonylureas with insulin may be an effective treatment. Diabet Med Abstract.  Author URL.
Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (2018). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. Abstract.  Author URL.
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.
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, et al (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet, 50(1), 26-41. Abstract.  Author URL.
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, et al (2018). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet, 50(5), 766-767. Abstract.  Author URL.
Turcot V, Lu Y, Highland HM, Schurmann C, Justice AE, Fine RS, Bradfield JP, Esko T, Giri A, Graff M, et al (2018). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nat Genet, 50(5), 765-766. Abstract.  Author URL.
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.
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, Rayner NW, et al (2018). Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet, 50(4), 559-571. Abstract.  Author URL.
Bravis V, Kaur A, Walkey HC, Godsland IF, Misra S, Bingley PJ, Williams AJK, Dunger DB, Dayan CM, Peakman M, et al (2018). Relationship between islet autoantibody status and the clinical characteristics of children and adults with incident type 1 diabetes in a UK cohort. BMJ OPEN, 8(4). Author URL.
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.
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.
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, et al (2017). An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes, 66(11), 2888-2902. Abstract.  Author URL.
Lundgren M, Steed LJ, Tamura R, Jonsdottir B, Gesualdo P, Crouch C, Sjöberg M, Hansson G, Hagopian WA, Ziegler AG, et al (2017). Analgesic antipyretic use among young children in the TEDDY study: No association with islet autoimmunity. BMC Pediatrics, 17(1). Abstract.
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.
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.
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.
Gopalakrishna G, Langendam M, Scholten R, Bossuyt P, Leeflang M, Noel-Storr A, Thomas J, Marshall I, Wallace B, Whiting P, et al (2017). Methods for Evaluating Medical Tests and Biomarkers : Birmingham, UK. 19–20 July 2016. Diagnostic and prognostic research, 1(Suppl 1).
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
Hadley D, Pan J, El-Sayed O, Aljabban J, Aljabban I, Azad TD, Hadied MO, Raza S, Rayikanti BA, Chen B, et al (2017). Precision annotation of digital samples in NCBI's gene expression omnibus. Scientific Data, 4 Abstract.
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.
Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, et al (2017). Rare and low-frequency coding variants alter human adult height. Nature, 542(7640), 186-190. Abstract.  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). SOS2 and ACP1 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.
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.
Himmelstein DS, Lizee A, Hessler C, Brueggeman L, Chen SL, Hadley D, Green A, Khankhanian P, Baranzini SE (2017). Systematic integration of biomedical knowledge prioritizes drugs for repurposing. eLife, 6 Abstract.
Davis TM, Makepeace AE, Ellard S, Colclough K, Peters K, Hattersley A, Davis WA (2017). The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II. Med J Aust, 207(8), 344-347. Abstract.  Author URL.
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.
Ried JS, Jeff M J, Chu AY, Bragg-Gresham JL, van Dongen J, Huffman JE, Ahluwalia TS, Cadby G, Eklund N, Eriksson J, et al (2016). A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun, 7 Abstract.  Author URL.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, et al (2016). A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet, 48(10), 1279-1283. Abstract.  Author URL.
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.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al (2016). Analysis of protein-coding genetic variation in 60,706 humans. Nature, 536(7616), 285-291. Abstract.
Jennison C, Jobling A, Pearson E, Hattersley A, Gray A, Hyde C (2016). Assessing the benefits of a stratified treatment strategy which improves average HbA1c in a proportion of patients with Type 2 diabetes: a MASTERMIND study. DIABETIC MEDICINE, 33, 23-23. Author URL.
Uusitalo U, Liu X, Yang J, Aronsson CA, Hummel S, Butterworth M, Lernmark Å, Rewers M, Hagopian W, She JX, et al (2016). Association of Early Exposure of Probiotics and Islet Autoimmunity in the TEDDY Study. JAMA Pediatrics, 170(1), 20-28. Abstract.
Panesar P, Jones A, Aldous A, Kranzer K, Halpin E, Fifer H, Macrae B, Curtis C, Pollara G (2016). Attitudes and Behaviours to Antimicrobial Prescribing following Introduction of a Smartphone App. PLOS ONE, 11(4). Author URL.
Williams GM, Long AE, Wilson IV, Aitken RJ, Wyatt RC, McDonald TJ, Wong FS, Hattersley AT, Williams AJK, Bingley PJ, et al (2016). Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes. Diabetologia, 59(12), 2722-2726. Abstract.  Author URL.
Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, et al (2016). Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes, 17(5), 360-367. Abstract.  Author URL.
Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, et al (2016). Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int, 90(1), 203-211. Abstract.  Author URL.
Angwin C, Pearson E, Hattersley A (2016). Crossover studies can help the individualisation of care in type 2 diabetes: the MASTERMIND approach. Practical Diabetes, 33(4), 115-117.
Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, et al (2016). Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia, 59(7), 1463-1473. Abstract.  Author URL.
Wanner C, Inzucchi SE, Lachin JM, Fitchett D, Von Eynatten M, Mattheus M, Johansen OE, Woerle HJ, Broedl UC, Zinman B, et al (2016). Empagliflozin and progression of kidney disease in type 2 diabetes. New England Journal of Medicine, 375(4), 323-334. Abstract.
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.
Tyrrell J, Richmond RC, Palmer TM, Feenstra B, Rangarajan J, Metrustry S, Cavadino A, Paternoster L, Armstrong LL, De Silva NMG, et al (2016). Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight. JAMA, 315(11), 1129-1129.
Yaghootkar H, Lotta LA, Tyrrell J, Smit RAJ, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, et al (2016). Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease. Diabetes, 65(8), 2448-2460. Abstract.  Author URL.
Pattaro C, Teumer A, Gorski M, Chu AY, Li M, Mijatovic V, Garnaas M, Tin A, Sorice R, Li Y, et al (2016). Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nature Communications, 7 Abstract.
Horikoshi M, Beaumont RN, Day FR, Warrington NM, Kooijman MN, Fernandez-Tajes J, Feenstra B, van Zuydam NR, Gaulton KJ, Grarup N, et al (2016). Genome-wide associations for birth weight and correlations with adult disease. Nature, 538(7624), 248-252. Abstract.  Author URL.
Rubio-Cabezas O, Gómez JL, Gleisner A, Hattersley AT, Codner E (2016). Hypogonadotropic Hypogonadism and Short Stature in Patients with Diabetes Due to Neurogenin 3 Deficiency. J Clin Endocrinol Metab, 101(10), 3555-3558. Abstract.  Author URL.
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.
Johnson MB, Hattersley AT, Flanagan SE (2016). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract.  Author URL.
Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM (2016). Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Diabetologia, 59(7), 1430-1436. Abstract.  Author URL.
Almoosawi S, Jones AR, Parkinson KN, Pearce MS, Collins H, Adamson AJ (2016). Parental Perception of Weight Status: Influence on Children's Diet in the Gateshead Millennium Study. PLOS ONE, 11(2). Author URL.
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.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (2016). Psychiatric morbidity in children with KCNJ11 neonatal diabetes. Diabet Med, 33(10), 1387-1391. Abstract.  Author URL.
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.
Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT (2016). South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people. Diabetologia, 59(10), 2262-2265. Author URL.
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 KCNJ11 neonatal diabetes. DIABETIC MEDICINE, 33, 172-173. Author URL.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (2016). Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia, 59(6), 1162-1166. Abstract.  Author URL.
Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, et al (2016). Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population with Monogenic Diabetes. Diabetes Care, 39(11), 1879-1888. Abstract.  Author URL.
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.
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, et al (2016). The genetic architecture of type 2 diabetes. Nature, 536(7614), 41-47. Abstract.  Author URL.
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.
Huan T, Esko T, Peters MJ, Pilling LC, Schramm K, Schurmann C, Chen BH, Liu C, Joehanes R, Johnson AD, et al (2015). A meta-analysis of gene expression signatures of blood pressure and hypertension. PLoS Genet, 11(3). 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.
Zinman B, Wanner C, Lachin JM, Fitchett D, Bluhmki E, Hantel S, Mattheus M, Devins T, Johansen OE, Woerle HJ, et al (2015). Empagliflozin, cardiovascular outcomes, and mortality in type 2 diabetes. New England Journal of Medicine, 373(22), 2117-2128. Abstract.
Dimitri P, Habeb AM, Garbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, et al (2015). Erratum: Expanding the clinical spectrum associated with GLIS3 mutations (The Journal of Clinical Endocrinology &amp; Metabolism (2015) 100:10 (E1362-E1369) DOI: 10.1210/jc.2015-1827). Journal of Clinical Endocrinology and Metabolism, 100(12).
Dimitri P, Habeb AM, Gurbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, et al (2015). Expanding the Clinical Spectrum Associated with GLIS3 Mutations. J Clin Endocrinol Metab, 100(10), E1362-E1369. Abstract.  Author URL.
Gaulton KJ, Ferreira T, Lee Y, Raimondo A, Mägi R, Reschen ME, Mahajan A, Locke A, Rayner NW, Robertson N, et al (2015). Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nature Genetics, 47(12), 1415-1425. Abstract.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, et al (2015). Genetic studies of body mass index yield new insights for obesity biology. Nature, 518(7538), 197-206. Abstract.  Author URL.
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.
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.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, et al (2014). GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63(8), 2888-2894. Abstract.  Author URL.
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.
Ng MCY, Shriner D, Chen BH, Li J, Chen WM, Guo X, Liu J, Bielinski SJ, Yanek LR, Nalls MA, et al (2014). Meta-Analysis of Genome-Wide Association Studies in African Americans Provides Insights into the Genetic Architecture of Type 2 Diabetes. PLoS Genetics, 10(8). Abstract.
Liu C-T, Buchkovich ML, Winkler TW, Heid IM, African Ancestry Anthropometry Genetics Consortium, GIANT Consortium, Borecki IB, Fox CS, Mohlke KL, North KE, et al (2014). Multi-ethnic fine-mapping of 14 central adiposity loci. Hum Mol Genet, 23(17), 4738-4744. Abstract.  Author URL.
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, 57(11), 2421-2424.
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
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.
Thewjitcharoen Y, Wanothayaroj E, Himathongkam T, Flanagan SE, Ellard S, Hattersley AT (2014). Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. Diabetes Research and Clinical Practice, 106(2), e22-e24. Abstract.
Thewjitcharoen Y, Wanothayaroj E, Himathongkam T, Flanagan SE, Ellard S, Hattersley AT (2014). Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. Diabetes Res Clin Pract, 106(2), e22-e24. Abstract.  Author URL.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H, et al (2014). Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet, 23(24), 6432-6440. Abstract.  Author URL.
Frayling TM, Hattersley AT (2014). Physiology helps GWAS take a step closer to mechanism. Diabetes, 63(6), 1836-1837. Author URL.
Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT (2014). Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA, 311(3), 279-286. Abstract.  Author URL.
Winkler TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Mägi R, Ferreira T, Fall T, Graff M, Justice AE, et al (2014). Quality control and conduct of genome-wide association meta-analyses. Nat Protoc, 9(5), 1192-1212. Abstract.  Author URL.
Majithia AR, Flannick J, Shahinian P, Guo M, Bray MA, Fontanillas P, Gabriel SB, Manning AK, Hartl C, Agarwala V, et al (2014). Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes. Proceedings of the National Academy of Sciences of the United States of America, 111(36), 13127-13132. Abstract.
Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Allen HL, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract.  Author URL.
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Shepherd M, Colclough K, Ellard S, Hattersley AT (2014). Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care. Clin Med (Lond), 14(2), 117-121. Abstract.  Author URL.
Chakera AJ, Spyer G, Vincent N, Ellard S, Hattersley AT, Dunne FP (2014). The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort. Diabetes Care, 37(5), 1230-1236. Abstract.  Author URL.
Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, et al (2014). The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. J Med Genet, 51(3), 165-169. Abstract.  Author URL.
Thong KY, Mcdonald TJ, Hattersley AT, Blann AD, Ramtoola S, Duncan C, Carr S, Adamson K, Nayak AU, Khurana R, et al (2014). The association between postprandial urinary C-peptide creatinine ratio and the treatment response to liraglutide: a multi-centre observational study. Diabetic Medicine, 31(4), 403-411. Abstract.
Rubio-Cabezas O, Hattersley AT, Njølstad PR, Mlynarski W, Ellard S, White N, Chi DV, Craig ME (2014). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes, 15(SUPPL.20), 47-64.
Hadley D, Wu ZL, Kao C, Kini A, Mohamed-Hadley A, Thomas K, Vazquez L, Qiu H, Mentch F, Pellegrino R, et al (2014). The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. Nature Communications, 5 Abstract.
Oram RA, Jones AG, Besser REJ, Knight BA, Shields BM, Brown RJ, Hattersley AT, McDonald TJ (2014). The majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells. Diabetologia, 57(1), 187-191. Abstract.
Chakera AJ, Raimondo A, Homsen S, Colclough K, Barrett A, De-Franco E, Chatelas A, van de Bunt M, Flanagan SE, Hattersley AT, et al (2014). The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity. DIABETOLOGIA, 57, S155-S155. Author URL.
Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, et al (2013). A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function. PLoS Genetics, 9(2). Abstract.
Li H, Gan W, Lu L, Dong X, Han X, Hu C, Yang Z, Sun L, Bao W, Li P, et al (2013). A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans. Diabetes, 62(1), 291-298. Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, De Franco E, Ellard S, Hattersley A, Guleryuz H, Bober E (2013). A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes and Metabolism, 39(4), 370-374. Abstract.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Allen HL, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, et al (2013). An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nature Genetics, 45(8), 947-950.
Weedon MN, Ellard S, Prindle MJ, Caswell R, Lango Allen H, Oram R, Godbole K, Yajnik CS, Sbraccia P, Novelli G, et al (2013). An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet, 45(8), 947-950. Abstract.  Author URL.
De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, et al (2013). Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency. Diabet Med, 30(5), e197-e200. Abstract.  Author URL.
Vimaleswaran KS, Berry DJ, Lu C, Tikkanen E, Pilz S, Hiraki LT, Cooper JD, Dastani Z, Li R, Houston DK, et al (2013). Causal Relationship between Obesity and Vitamin D Status: Bi-Directional Mendelian Randomization Analysis of Multiple Cohorts. PLoS Medicine, 10(2). Abstract.
Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JPH, Ennis S, et al (2013). Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. DIABETOLOGIA, 56(4), 758-762. Author URL.
Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JPH, Ennis S, et al (2013). Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia, 1-5.
Chakera AJ, Flanagan SE, Ellard S, Hattersley AT (2013). Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59. Diabetes Care, 36(2). Author URL.
Babiker T, Shepherd MH, Hattersley AT (2013). Continue with long term sulfonylureas in patients with mutations in the KCNJ11 gene when there is evidence of response even if insulin treatment is still required. Diabetes Research and Clinical Practice, 100(3).
Babiker T, Shepherd MH, Hattersley AT (2013). Continue with long term sulfonylureas in patients with mutations in the KCNJ11 gene when there is evidence of response even if insulin treatment is still required. Diabetes Research and Clinical Practice
Nowak N, Szopa M, Thanabalasingham G, McDonald TJ, Colclough K, Skupien J, James TJ, Kiec-Wilk B, Kozek E, Mlynarski W, et al (2013). Cystatin C is not a good candidate biomarker for HNF1A-MODY. ACTA DIABETOLOGICA, 50(5), 815-820. Author URL.
Shankar RK, Ellard S, Standiford D, Pihoker C, Gilliam LK, Hattersley A, Dolan LM (2013). Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes. Pediatric Diabetes
Shankar RK, Ellard S, Standiford D, Pihoker C, Gilliam LK, Hattersley A, Dolan LM (2013). Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes. Pediatric Diabetes, 14(7), 535-538. Abstract.
Shepherd M, Ellard S, Colclough K, Hattersley AT (2013). Do genetic diabetes nurses make a difference? a 10 year evaluation of increasing knowledge of monogenic diabetes through a national network. DIABETIC MEDICINE, 30, 8-8. Author URL.
Oram RA, Jones AG, Besser REJ, Knight BA, Shields BM, Brown RJ, Hattersley AT, McDonald TJ (2013). Erratum to: the majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells. Diabetologia, 57(1), 262-262.
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, et al (2013). Erratum: Common variants at 12q15 and 12q24 are associated with infant head circumference (Nature Genetics (2012) 44 (532-538)). Nature Genetics, 45(6).
Albrechtsen A, Grarup N, Li Y, Sparso T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, et al (2013). Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. DIABETOLOGIA, 56(2), 298-310. Author URL.
Shields BM, Knight BA, Hill AV, Hattersley AT, Vaidya B (2013). Five-year follow-up for women with subclinical hypothyroidism in pregnancy. J Clin Endocrinol Metab, 98(12), E1941-E1945. Abstract.  Author URL.
De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDM Consortium, Hattersley AT, Ellard S (2013). GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62(3), 993-997. Abstract.  Author URL.
Sleiman P, Wang D, Glessner J, Hadley D, Gur RE, Cohen N, Li Q, Hakonarson H, Kao C, Wu ZL, et al (2013). GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. Scientific Reports, 3 Abstract.
McTaggart JS, Jenkinson N, Brittain JS, Greeley SAW, Hattersley AT, Ashcroft FM (2013). Gain-of-Function Mutations in the K<inf>ATP</inf> Channel (KCNJ11) Impair Coordinated Hand-Eye Tracking. PLoS ONE, 8(4). Abstract.
Tabassum R, Chauhan G, Dwivedi OP, Mahajan A, Jaiswal A, Kaur I, Bandesh K, Singh T, Mathai BJ, Pandey Y, et al (2013). Genome-Wide Association Study for Type 2 Diabetes in Indians Identifies a New Susceptibility Locus at 2q21. DIABETES, 62(3), 977-986. Author URL.
Cousminer DL, Berry DJ, Timpson NJ, Ang W, Thiering E, Byrne EM, Rob Taal H, Huikari V, Bradfield JP, Kerkhof M, et al (2013). Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Human Molecular Genetics, 22(13), 2735-2747. Abstract.
Tabassum R, Chauhan G, Dwivedi OP, Mahajan A, Jaiswal A, Kaur I, Bandesh K, Singh T, Mathai BJ, Pandey Y, et al (2013). Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. Diabetes, 62(3), 977-986. Abstract.  Author URL.
Saxena R, Saleheen D, Been LF, Garavito ML, Braun T, Bjonnes A, Young R, Ho WK, Rasheed A, Frossard P, et al (2013). Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. Diabetes, 62(5), 1746-1755. Abstract.  Author URL.
Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S (2013). HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabet Med, 30(1), 114-117. Abstract.  Author URL.
Besser REJ, Shields BM, Hammersley SE, Colclough K, McDonald TJ, Gray Z, Heywood JJN, Barrett TG, Hattersley AT (2013). Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetes. Pediatr Diabetes, 14(3), 181-188. Abstract.  Author URL.
Flanagan SE, MacKay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: Expanding the clinical phenotype. Diabetologia, 56(1), 218-221.
Flanagan SE, Mackay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia, 56(1), 218-221. Author URL.
Matsunami N, Hadley D, Hensel CH, Christensen GB, Kim C, Frackelton E, Thomas K, da Silva RP, Stevens J, Baird L, et al (2013). Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population. PLoS ONE, 8(1). Abstract.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.  Author URL.
Oram RA, McDonald TJ, Vaidya B (2013). Investigating hypokalaemia. BMJ, 347 Author URL.
Besser REJ, Shields BM, Casas R, Hattersley AT, Ludvigsson J (2013). Lessons from the mixed-meal tolerance test: use of 90-minute and fasting C-peptide in pediatric diabetes. Diabetes Care, 36(2), 195-201. Abstract.  Author URL.
De Lima YV, Evans D, Page-Shipp L, Barnard A, Sanne I, Menezes CN, Van Rie A (2013). Linkage to Care and Treatment for TB and HIV among People Newly Diagnosed with TB or HIV-Associated TB at a Large, Inner City South African Hospital. PLOS ONE, 8(1). Author URL.
Connelly PJ, Gellatly E, Bell L, Shepherd M, Hattersley AT, Pearson E (2013). Measuring endogenous insulin secretion in Type 1 diabetes is life changing. DIABETIC MEDICINE, 30, 94-95. Author URL.
Yaghootkar H, Lamina C, Scott RA, Dastani Z, Hivert M-F, Warren LL, Stancakova A, Buxbaum SG, Lyytikaeinen L-P, Henneman P, et al (2013). Mendelian Randomization Studies Do Not Support a Causal Role for Reduced Circulating Adiponectin Levels in Insulin Resistance and Type 2 Diabetes. DIABETES, 62(10), 3589-3598. Author URL.
Yaghootkar H, Lamina C, Scott R, Dastani Z, Hivert MF, Lawlor D, Meigs J, Richards B, Frayling T, Consortium A, et al (2013). Mendelian randomisation studies do not support a causal role for reduced circulating adiponectin levels in fasting based measures of insulin resistance and Type 2 diabetes. DIABETIC MEDICINE, 30, 30-30. Author URL.
Evans DM, Brion MJA, Paternoster L, Kemp JP, McMahon G, Munafò M, Whitfield JB, Medland SE, Montgomery GW, GIANT Consortium, et al (2013). Mining the human phenome using allelic scores that index biological intermediates. PLoS Genet, 9(10). Abstract.  Author URL.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, et al (2013). Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature, 493(7432), 406-410. Abstract.
Horikoshi M, Yaghootkar H, Mook-Kanamori DO, Sovio U, Taal HR, Hennig BJ, Bradfield JP, St Pourcain B, Evans DM, Charoen P, et al (2013). New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. Nature Genetics, 45(1), 76-82. Abstract.
Huertas-Vazquez A, Nelson CP, Guo X, Reinier K, Uy-Evanado A, Teodorescu C, Ayala J, Jerger K, Chugh H, WTCCC+, et al (2013). Novel loci associated with increased risk of sudden cardiac death in the context of coronary artery disease. PLoS One, 8(4). Abstract.  Author URL.
Tyrrell JS, Yaghootkar H, Freathy RM, Hattersley AT, Frayling TM (2013). Parental diabetes and birthweight in 236 030 individuals in the UK biobank study. Int J Epidemiol, 42(6), 1714-1723. Abstract.  Author URL.
Bee YM, Zhao Y, Ellard S, Hattersley AT, Yap F (2013). Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism. Pediatric Diabetes
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, et al (2013). Permanent neonatal diabetes mellitus: Prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. Pediatric Diabetes, 14(3), 174-180. Abstract.
Jones AG, Knight BA, Baker GC, Hattersley AT (2013). Practical implications of choice of test in National Institute for Health and Clinical Excellence (NICE) guidance for the prevention of Type 2 diabetes. Diabet Med, 30(1), 126-127. Author URL.
Steele AM, Wensley KJ, Brewer E, Shields BM, Hattersley AT, McDonald TJ (2013). Preanalytical sample handling of venous blood: How to ensure your glucose measurement is accurate and reliable. Practical Diabetes, 30(3), 128-131. Abstract.
Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM, Greenbaum CJ, Imperatore G, Lawrence JM, Marcovina SM, et al (2013). Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab, 98(10), 4055-4062. Abstract.  Author URL.
Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodriguez-Segui SA, Shaw-Smith C, Cho CH, Allen HL, et al (2013). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nature Genetics
Babiker T, Chakera AJ, Shepherd M, Hattersley AT (2013). Remitting diabetes in young European Whites: a novel syndrome. DIABETIC MEDICINE, 30, 98-98. Author URL.
Shields BM, Henley W, Besser REJ, Hattersley AT, Ludvigsson J (2013). Response to Comment on: Besser et al. Lessons from the Mixed-Meal Tolerance Test: Use of 90-Minute and Fasting C-Peptide in Pediatric Diabetes. Diabetes Care 2013;36:195-201. DIABETES CARE, 36(12), E222-E222. Author URL.
Chakera AJ, Carleton VL, Shields B, Ross GP, Hattersley AT (2013). Response to Comment on: Chakera et al. Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care 2012;35:1832-1834. Diabetes Care, 36(1). Author URL.
Eininger AK, Oram RA, Friend PJ, Asderakis A, Winearls CG, Hattersley AT, Owen KR (2013). Simultaneous pancreas and kidney transplantation (SPK) should be indicated for patients with maturity-onset diabetes of the young (MODY) and end-stage nephropathy. DIABETIC MEDICINE, 30, 92-93. Author URL.
Chakera AJ, Ellard S, Hattersley AT, Dunne F (2013). Targeted screening for Glucokinase mutations in pregnancy allows us to find half of the missing cases of glucokinase monogenic diabetes: the Atlantic Diabetes in Pregnancy cohort. DIABETIC MEDICINE, 30, 11-11. Author URL.
Prudente S, Copetti M, Morini E, Mendonca C, Andreozzi F, Chandalia M, Baratta R, DIAGRAM consortium, Pellegrini F, Mercuri L, et al (2013). The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry. Nutr Metab Cardiovasc Dis, 23(11), 1043-1049. Abstract.  Author URL.
Thong KY, Mcdonald TJ, Hattersley AT, Blann AD, Ramtoola S, Duncan C, Carr S, Adamson K, Nayak AU, Khurana R, et al (2013). The association between postprandial urinary C-peptide creatinine ratio and the treatment response to liraglutide: a multi-centre observational study. Diabetic Medicine
Jones AG, Hattersley AT (2013). The clinical utility of C-peptide measurement in the care of patients with diabetes. Diabetic Medicine, 30(7), 803-817. Abstract.
Hope SV, Jones AG, Goodchild E, Shepherd M, Besser REJ, Shields B, Mcdonald T, Knight BA, Hattersley A (2013). Urinary C-peptide creatinine ratio detects absolute insulin deficiency in Type 2 diabetes. Diabetic Medicine, 30(11), 1342-1348. Abstract.
Hope SV, Jones AG, Goodchild E, Shepherd M, Besser REJ, Shields B, McDonald T, Knight BA, Hattersley A (2013). Urinary C-peptide creatinine ratio detects absolute insulin deficiency in Type 2 diabetes. Diabet Med, 30(11), 1342-1348. Abstract.  Author URL.
Oram RA, Rawlingson A, Shields BM, Bingham C, Besser REJ, McDonald TJ, Knight BA, Hattersley AT (2013). Urine C-peptide creatinine ratio can be used to assess insulin resistance and insulin production in people without diabetes: an observational study. BMJ Open, 3(12). Abstract.  Author URL.
Oram RA, Brooks AMS, Smith R, Rutter MK, Johnson PR, Choudhary P, Rosenthal M, Forbes S, McDonald TJ, Hattersley AT, et al (2013). Urine c-peptide creatinine ratio can be used for home monitoring of islet transplant function. DIABETIC MEDICINE, 30, 87-87. Author URL.
Steele AM, Wensley KJ, Ellard S, Murphy R, Shepherd M, Colclough K, Hattersley AT, Shields BM (2013). Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies. PLoS One, 8(6). Abstract.  Author URL.
Igoillo-Esteve M, Genin A, Lambert N, Désir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, et al (2013). tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans. PLoS Genet, 9(10). Abstract.  Author URL.
Manning AK, Hivert M-F, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu C-T, Bielak LF, Prokopenko I, et al (2012). A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature Genetics
Manning AK, Hivert MF, Scott RA, Grimsby JL, Bouatia-Naji N, Chen H, Rybin D, Liu CT, Bielak LF, Prokopenko I, et al (2012). A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nature Genetics, 44(6), 659-669. Abstract.
Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, et al (2012). A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics, 44(5), 526-531. Abstract.
Bradfield JP, Taal HR, Timpson NJ, Scherag A, Lecoeur C, Warrington NM, Hypponen E, Holst C, Valcarcel B, Thiering E, et al (2012). A genome-wide association meta-analysis identifies new childhood obesity loci. Nature Genetics
Palmer ND, McDonough CW, Hicks PJ, Roh BH, Wing MR, an SS, Hester JM, Cooke JN, Bostrom MA, Rudock ME, et al (2012). A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One, 7(1). Abstract.  Author URL.
Imamura M, Maeda S, Yamauchi T, Hara K, Yasuda K, Morizono T, Takahashi A, Horikoshi M, Nakamura M, Fujita H, et al (2012). A single-nucleotide polymorphism in ANK1 is associated with susceptibility to type 2 diabetes in Japanese populations. HUMAN MOLECULAR GENETICS, 21(13), 3042-3049. Author URL.
Fraser CS, Rubio-Cabezas O, Littlechild JA, Ellard S, Hattersley AT, Flanagan SE (2012). Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes. Eur J Endocrinol, 167(3), 417-421. Abstract.  Author URL.
Chakera AJ, Carleton VL, Ellard S, Wong J, Yue DK, Pinner J, Hattersley AT, Ross GP (2012). Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care, 35(9), 1832-1834. Abstract.  Author URL.
Jones AG, Besser REJ, Shields BM, McDonald TJ, Hope SV, Knight BA, Hattersley AT (2012). Assessment of endogenous insulin secretion in insulin treated diabetes predicts postprandial glucose and treatment response to prandial insulin. BMC Endocrine Disorders, 12 Abstract.
Orlin A, Hadley D, Chang W, Ho AC, Brown G, Kaiser RS, Regillo CD, Godshalk AN, Lier A, Kaderli B, et al (2012). Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration. Retina, 32(1), 4-9. Abstract.
Stahl EA, Wegmann D, Trynka G, Gutierrez-Achury J, Do R, Voight BF, Kraft P, Chen R, Kallberg HJ, Kurreeman FAS, et al (2012). Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. NATURE GENETICS, 44(5), 483-+. Author URL.
Maller JB, McVean G, Byrnes J, Vukcevic D, Palin K, Su Z, Howson JMM, Auton A, Myers S, Morris A, et al (2012). Bayesian refinement of association signals for 14 loci in 3 common diseases. Nature Genetics, 44(12), 1294-1301. Abstract.
Maller JB, McVean G, Byrnes J, Vukcevic D, Palin K, Su Z, Howson JMM, Auton A, Myers S, Morris A, et al (2012). Bayesian refinement of association signals for 14 loci in 3 common diseases. Nature Genetics
Kelly MA, Rees SD, Hydrie MZI, Shera AS, Bellary S, O'Hare JP, Kumar S, Taheri S, Basit A, Barnett AH, et al (2012). Circadian gene variants and susceptibility to type 2 diabetes: a pilot study. PLoS One, 7(4). Abstract.  Author URL.
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Moller E, Bradfield JP, Freathy RM, et al (2012). Common variants at 12q15 and 12q24 are associated with infant head circumference. NATURE GENETICS, 44(5), 532-+. Author URL.
Ikram MA, Fornage M, Smith AV, Seshadri S, Schmidt R, Debette S, Vrooman HA, Sigurdsson S, Ropele S, Taal HR, et al (2012). Common variants at 6q22 and 17q21 are associated with intracranial volume. Nature Genetics, 44(5), 539-544. Abstract.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, et al (2012). Copy-number disorders are a common cause of congenital kidney malformations. American Journal of Human Genetics, 91(6), 987-997. Abstract.
Nowak N, Szopa M, Thanabalasingham G, McDonald TJ, Colclough K, Skupien J, James TJ, Kiec-Wilk B, Kozek E, Mlynarski W, et al (2012). Cystatin C is not a good candidate biomarker for HNF1A-MODY. Acta Diabetologica, 1-6.
Baxter J, Vehik K, Johnson SB, Lernmark B, Roth R, Simell T, Rewers M, Barriga K, Bautista K, Baxter J, et al (2012). Differences in recruitment and early retention among ethnic minority participants in a large pediatric cohort: the TEDDY Study. Contemporary Clinical Trials, 33(4), 633-640. Abstract.
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.
Chakera AJ, Irvine S, Hammersley S, Sheppard M, Hattersley AT, Team UNITEDR (2012). Early onset type 2 diabetes and learning disability: an important and common novel clinical syndrome. DIABETOLOGIA, 55, S154-S154. Author URL.
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.
Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, et al (2012). Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia, 1-13.
Dean R, Perry JC, Pizzari T, Mank JE, Wigby S (2012). Experimental Evolution of a Novel Sexually Antagonistic Allele. PLOS GENETICS, 8(8). Author URL.
Tyrrell J, Huikari V, Christie JT, Cavadino A, Bakker R, Brion M-JA, Geller F, Paternoster L, Myhre R, Potter C, et al (2012). Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight. Hum Mol Genet, 21(24), 5344-5358. Abstract.  Author URL.
Fox CS, Liu Y, White CC, Feitosa M, Smith AV, Heard-Costa N, Lohman K, Johnson AD, Foster MC, Greenawalt DM, et al (2012). Genome-Wide Association for Abdominal Subcutaneous and Visceral Adipose Reveals a Novel Locus for Visceral Fat in Women. PLoS Genetics, 8(5), e1002695-e1002695.
Demirkan A, van Duijn CM, Ugocsai P, Isaacs A, Pramstaller PP, Liebisch G, Wilson JF, Johansson A, Rudan I, Aulchenko YS, et al (2012). Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. PLoS Genetics, 8(2). Abstract.
Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PMA, Zhang H, Kim CE, Robison R, et al (2012). Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nature Genetics, 44(1), 78-84. Abstract.
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.
Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, et al (2012). Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NATURE, 491(7422), 119-124. Author URL.
Lucas G, Lluís-Ganella C, Subirana I, Musameh MD, Gonzalez JR, Nelson CP, Sentí M, Myocardial Infarction Genetics Consortium, Wellcome Trust Case Control Consortium, Schwartz SM, et al (2012). Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction. PLoS One, 7(8). Abstract.  Author URL.
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.
Wu KC, McDonald PR, Liu JJ, Chaguturu R, Klaassen CD (2012). Implementation of a High-Throughput Screen for Identifying Small Molecules to Activate the Keap1-Nrf2-ARE Pathway. PLOS ONE, 7(10). Author URL.
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 HMGA1 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, Perry JRB, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, 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 SIAE 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 beta/delta by Selective Antagonists to Treat PPAR beta/delta - Mediated Psoriasis-Like Skin Disease in Vivo. PLOS ONE, 7(5). Author URL.
Tillin T, Forouhi NG, McKeigue PM, Chaturvedi N, Beauchamp N, Coady E, Collins R, Forouhi N, Gedroyc W, Godsland I, 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 HNF4A 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 trans regulator at the KLF14 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.
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.
Habeb AM, George ET, Mathew V, Hattersley AL (2011). 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, 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.
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 HNF4A 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 GCK and TCF7L2 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.