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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

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

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.

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Key publications | Publications by category | Publications by year

Key publications


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.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, et al (2010). Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America, 107(7), 3105-3110. Abstract.
Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, et al (2010). Rfx6 directs islet formation and insulin production in mice and humans. Nature, 463(7282), 775-780. Abstract.
Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT (2009). A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet, 18(15), 2922-2927. Abstract.  Author URL.
Rubio-Cabezas O, Minton JAL, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, et al (2009). Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care, 32(1), 111-116. Abstract.  Author URL.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, et al (2009). Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes, 58(6), 1428-1433. Abstract.  Author URL.

Publications by category


Books

Zhou K, Pearson ER (2013). Insights from genome-wide association studies of drug response. Abstract.

Journal articles

Wood AR, Jonsson A, Jackson AU, Wang N, van Leewen N, Palmer ND, Kobes S, Deelen J, Boquete-Vilarino L, Paananen J, et al (In Press). A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants. Diabetes, 66(8), 2296-2309. Abstract.  Author URL.  Full text.
Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, et al (In Press). 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.  Full text.
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 (In Press). A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun, 7 Abstract.  Author URL.  Full text.
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. Nat Genet, 48(10), 1279-1283. Abstract.  Author URL.  Full text.
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, et al (In Press). An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes, 66(11), 2888-2902. Abstract.  Author URL.
De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (In Press). 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.  Full text.
Ellard S, Flanagan SE, De Franco E, Lango Allen H, Zera M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, et al (In Press). Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Meatabolism Full text.
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 Full text.
Williams GM, Long AE, Wilson IV, Aitken RJ, Wyatt RC, McDonald TJ, Wong FS, Hattersley AT, Williams AJK, Bingley PJ, et al (In Press). Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes. Diabetologia, 59(12), 2722-2726. Abstract.  Author URL.  Full text.
Shields B, McDonald T, Oram R, Hill A, Hudson M, Leete P, Pearson E, Richardson S, Morgan N, Hattersley A, et al (In Press). C-peptide decline in type 1 diabetes has two phases: an initial exponential fall and a subsequent stable phase. Diabetes Care Full text.
Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, et al (In Press). Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes, 17(5), 360-367. Abstract.  Author URL.  Full text.
Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, et al (In Press). Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int, 90(1), 203-211. Abstract.  Author URL.  Full text.
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 Full text.
Lonergan M, Senn SJ, McNamee C, Daly AK, Sutton R, Hattersley A, Pearson E, Pirmohamed M (In Press). Defining drug response for stratified medicine. Drug Discov Today, 22(1), 173-179. Abstract.  Author URL.
Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, et al (In Press). Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia, 59(7), 1463-1473. Abstract.  Author URL.  Full text.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (In Press). 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.  Full text.
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 Full text.
Thomas NJ, Jones SE, Weedon MN, Shields BM, Oram RA, Hattersley AT (In Press). 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.  Full text.
Yaghootkar H, Lotta LA, Tyrrell J, Smit RAJ, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, et al (In Press). 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.  Full text.
Thomas NJ, Jones SE, Weedon MN, Shields BM, Hattersley AT, Oram RA (In Press). Genetic risk scores in adult-onset type 1 diabetes - Authors' reply. Lancet Diabetes Endocrinol, 6(3). Author URL.
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 RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.  Full text.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (In Press). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.  Full text.
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 Full text.
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 Full text.
Johnson MB, Hattersley AT, Flanagan SE (In Press). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract.  Author URL.  Full text.
Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM (In Press). 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.  Full text.
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 Full text.
Hilbrands R, Keymolen K, Michotte A, Marichal M, Cools F, Goossens A, Veld PI, De Schepper J, Hattersley A, Heimberg H, et al (In Press). Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. BMC Med Genet, 18(1). Abstract.  Author URL.  Full text.
Shields B, Shepherd M, Hudson M, McDonald T, Colclough K, Peters J, Knight B, Hyde C, Ellard S, Pearson E, et al (In Press). Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients. Diabetes Care Full text.
Hattersley AT, Patel KA (In Press). Precision diabetes: learning from monogenic diabetes. Diabetologia, 60(5), 769-777. Abstract.  Author URL.  Full text.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (In Press). Psychiatric morbidity in children with KCNJ11 neonatal diabetes. Diabet Med, 33(10), 1387-1391. Abstract.  Author URL.  Full text.
Yaghootkar H, Bancks MP, Jones SE, McDaid A, Beaumont R, Donnelly L, Wood AR, Campbell A, Tyrrell J, Hocking LJ, et al (In Press). Quantifying the extent to which index event biases influence large genetic association studies. Hum Mol Genet, 26(5), 1018-1030. Abstract.  Author URL.  Full text.
Hope SV, Knight BA, Shields BM, Hattersley AT, McDonald TJ, Jones AG (In Press). Random non-fasting C-peptide: bringing robust assessment of endogenous insulin secretion to the clinic. Diabet Med, 33(11), 1554-1558. Abstract.  Author URL.  Full text.
Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, et al (In Press). Rare and low-frequency coding variants alter human adult height. Nature, 542(7640), 186-190. Abstract.  Author URL.  Full text.
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 Full text.
Qureshi SA, Burch N, Druce M, Hattersley JG, Khan S, Gopalakrishnan K, Darby C, Wong JLH, Davies L, Fletcher S, et al (In Press). Screening for malnutrition in patients with gastro-entero-pancreatic neuroendocrine tumours: a cross-sectional study. BMJ Open, 6(5). Abstract.  Author URL.
Flannick J, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, et al (In Press). Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data, 4 Abstract.  Author URL.
Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT (In Press). 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.  Full text.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (In Press). 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.  Full text.
Preiss D, Dawed A, Welsh P, Heggie A, Jones AG, Dekker J, Koivula R, Hansen TH, Stewart C, Holman RR, et al (In Press). Sustained influence of metformin therapy on circulating glucagon-like peptide-1 levels in individuals with and without type 2 diabetes. Diabetes Obes Metab, 19(3), 356-363. 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 (In Press). 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.  Full text.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (In Press). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.  Full text.
Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, et al (In Press). The genetic architecture of type 2 diabetes. Nature, 536(7614), 41-47. Abstract.  Author URL.
Yew TW, McCreight L, Colclough K, Ellard S, Pearson ER (In Press). tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. Diabet Med, 33(9), e21-e25. Abstract.  Author URL.
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 Full text.
Rappoport N, Toung J, Hadley D, Wong RJ, Fujioka K, Reuter J, Abbott CW, Oh S, Hu D, Eng C, et al (2018). A genome-wide association study identifies only two ancestry specific variants associated with spontaneous preterm birth. Scientific Reports, 8(1). Abstract.
Kido T, Sikora-Wohlfeld W, Kawashima M, Kikuchi S, Kamatani N, Patwardhan A, Chen R, Sirota M, Kodama K, Hadley D, et al (2018). Are minor alleles more likely to be risk alleles?. BMC Medical Genomics, 11(1). Abstract.
Koletzko S, Lee HS, Beyerlein A, Aronsson CA, Hummel M, Liu E, Simell V, Kurppa K, Lernmark Å, Hagopian W, et al (2018). Cesarean Section on the Risk of Celiac Disease in the Offspring: the Teddy Study. Journal of Pediatric Gastroenterology and Nutrition, 66(3), 417-424. Abstract.
Noyes JD, Soto-Pedre E, Donnelly LA, Pearson ER (2018). Characteristics of people with high visit-to-visit glycaemic variability in Type 2 diabetes. Diabetic Medicine, 35(2), 262-269. Abstract.
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.
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.
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 Abstract.  Author URL.  Full text.
Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, et al (2018). Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference. Nat Commun, 9(1). Abstract.  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.
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.  Full text.
Gudmundsdottir V, Pedersen HK, Allebrandt KV, Brorsson C, van Leeuwen N, Banasik K, Mahajan A, Groves CJ, de Bunt MV, Dawed AY, et al (2018). Integrative network analysis highlights biological processes underlying GLP-1 stimulated insulin secretion: a DIRECT study. PLoS ONE, 13(1). Abstract.
Dujic T, Zhou K, Donnelly LA, Leese G, Palmer CNA, Pearson ER (2018). Interaction between variants in the CYP2C9 and POR genes and the risk of sulfonylurea-induced hypoglycaemia: a GoDARTS Study. Diabetes, Obesity and Metabolism, 20(1), 211-214. Abstract.
Siddiqui MK, Kennedy G, Carr F, Doney ASF, Pearson ER, Morris AD, Johnson T, McLaughlin MM, Williams RE, Palmer CNA, et al (2018). Lp-PLA<inf>2</inf>activity is associated with increased risk of diabetic retinopathy: a longitudinal disease progression study. Diabetologia, 1-10. Abstract.
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.  Full text.
Molnos S, Wahl S, Haid M, Eekhoff EMW, Pool R, Floegel A, Deelen J, Much D, Prehn C, Breier M, et al (2018). Metabolite ratios as potential biomarkers for type 2 diabetes: a DIRECT study. Diabetologia, 61(1), 117-129. Abstract.
Pearson ER (2018). Pharmacogenetics and target identification in diabetes. Current Opinion in Genetics and Development, 50, 68-73. Abstract.
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.  Full text.
Mccreight LJ, Stage TB, Connelly P, Lonergan M, Nielsen F, Prehn C, Adamski J, Brøsen K, Pearson ER (2018). Pharmacokinetics of metformin in patients with gastrointestinal intolerance. Diabetes, Obesity and Metabolism Abstract.
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 DPP4-inhibitor therapy. Diabetes Care Full text.
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.  Full text.
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 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 Abstract.  Author URL.
Donnelly LA, Zhou K, Doney ASF, Jennison C, Franks PW, Pearson ER (2018). Rates of glycaemic deterioration in a real-world population with type 2 diabetes. Diabetologia, 61(3), 607-615. Abstract.
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.
Davis WA, Peters KE, Makepeace A, Griffiths S, Bundell C, Grant SFA, Ellard S, Hattersley AT, Paul Chubb SA, Bruce DG, et al (2018). The prevalence of diabetes in Australia: Insights from the Fremantle Diabetes Study Phase II. Intern Med J Abstract.  Author URL.
Shaikh F, Franc B, Allen E, Sala E, Awan O, Hendrata K, Halabi S, Mohiuddin S, Malik S, Hadley D, et al (2018). Translational Radiomics: Defining the Strategy Pipeline and Considerations for Application—Part 1: from Methodology to Clinical Implementation. Journal of the American College of Radiology, 15(3), 538-542. Abstract.
Shaikh F, Franc B, Allen E, Sala E, Awan O, Hendrata K, Halabi S, Mohiuddin S, Malik S, Hadley D, et al (2018). Translational Radiomics: Defining the Strategy Pipeline and Considerations for Application—Part 2: from Clinical Implementation to Enterprise. Journal of the American College of Radiology, 15(3), 543-549. Abstract.
Siddiqui MK, Maroteau C, Veluchamy A, Tornio A, Tavendale R, Carr F, Abelega NU, Carr D, Bloch K, Hallberg P, et al (2017). A common missense variant of LILRB5 is associated with statin intolerance and myalgia. European Heart Journal, 38(48), 3569-3575. Abstract.
Katanic D, Vorgučin I, Hattersley A, Ellard S, Houghton JAL, Obreht D, Knežević Pogančev M, Vlaški J, Pavkov D (2017). A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up. Diabetes Res Clin Pract, 129, 59-61. Abstract.  Author URL.
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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.
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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.  Full text.
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Graff M, Scott RA, Justice AE, Young KL, Feitosa MF, Barata L, Winkler TW, Chu AY, Mahajan A, Hadley D, et al (2017). Genome-wide physical activity interactions in adiposity - a meta-analysis of 200,452 adults. PLoS Genet, 13(4). 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. Full text.
Warrington NM, Richmond R, Fenstra B, Myhre R, Gaillard R, Paternoster L, Wang CA, Beaumont RN, Das S, Murcia M, et al (2017). Maternal and fetal genetic contribution to gestational weight gain. Int J Obes (Lond) Abstract.  Author URL.
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.  Full text.
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.
Rauh SP, Heymans MW, Koopman ADM, Nijpels G, Stehouwer CD, Thorand B, Rathmann W, Meisinger C, Peters A, De Las Heras Gala T, et al (2017). Predicting glycated hemoglobin levels in the non-diabetic general population: Development and validation of the DIRECTDETECT prediction model-a DIRECT study. PLoS ONE, 12(2). Abstract.
Soto-Pedre E, Siddiqui MK, Doney AS, Palmer CNA, Pearson ER, Leese GP (2017). Replication confirms the association of loci in FOXE1, PDE8B, CAPZB and PDE10A with thyroid traits: a Genetics of Diabetes Audit and Research Tayside study (GoDARTS). Pharmacogenetics and Genomics, 27(10), 356-362. Abstract.
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.  Full text.
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.
Rena G, Hardie DG, Pearson ER (2017). The mechanisms of action of metformin. Diabetologia, 60(9), 1577-1585. 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.
Dujic T, Zhou K, Yee SW, van Leeuwen N, de Keyser CE, Javorský M, Goswami S, Zaharenko L, Hougaard Christensen MM, Out M, et al (2017). Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: a Metgen Meta-Analysis. Clinical Pharmacology and Therapeutics, 101(6), 763-772. Abstract.
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.  Full text.
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.  Full text.
Dawed AY, Donnelly L, Tavendale R, Carr F, Leese G, Palmer CNA, Pearson ER, Zhou K (2016). CYP2C8 and SLCO1B1 variants and therapeutic response to thiazolidinediones in patients with Type 2 diabetes. Diabetes Care, 39(11), 1902-1908. Abstract.
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. Full text.
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. Full text.
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.  Full text.
Acevedo A, Chakera A (2016). Gliflozin monotherapy for type 2 diabetes: a review of NICE Technology Appraisal 390. Practical Diabetes, 33(6), 192-193.
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.  Full text.
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.
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.  Full text.
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.  Full text.
McCreight LJ, Bailey CJ, Pearson ER (2016). Metformin and the gastrointestinal tract. Diabetologia, 59(3), 426-435. Abstract.
Dujic T, Causevic A, Bego T, Malenica M, Velija-Asimi Z, Pearson ER, Semiz S (2016). Organic cation transporter 1 variants and gastrointestinal side effects of metformin in patients with Type 2 diabetes. Diabetic Medicine, 33(4), 511-514. Abstract.
Pearson ER (2016). Personalized medicine in diabetes: the role of 'omics' and biomarkers. Diabetic Medicine, 33(6), 712-717. Abstract.
Dawed AY, Zhou K, Pearson ER (2016). Pharmacogenetics in type 2 diabetes: Influence on response to oral hypoglycemic agents. Pharmacogenomics and Personalized Medicine, 9, 17-29. Abstract.
Zhou K, Pedersen HK, Dawed AY, Pearson ER (2016). Pharmacogenomics in diabetes mellitus: Insights into drug action and drug discovery. Nature Reviews Endocrinology, 12(6), 337-346. Abstract.
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.  Full text.
Connelly PJ, Smith N, Chadwick R, Exley AR, Shneerson JM, Pearson ER (2016). Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance. Diabetic Medicine, 33(3), 371-375. Abstract.
Singh JSS, Fathi A, Vickneson K, Mordi I, Mohan M, Houston JG, Pearson ER, Struthers AD, Lang CC (2016). Research into the effect of SGLT2 inhibition on left ventricular remodelling in patients with heart failure and diabetes mellitus (REFORM) trial rationale and design. Cardiovascular Diabetology, 15(1). Abstract.
Raj S, Chakera A (2016). Sensor-augmented pump therapy: Review of new NICE diagnostic guidance. Practical Diabetes, 33(2), 47-48a.
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.  Full text.
Atabaki-Pasdar N, Ohlsson M, Shungin D, Kurbasic A, Ingelsson E, Pearson ER, Ali A, Franks PW (2016). Statistical power considerations in genotype-based recall randomized controlled trials. Scientific Reports, 6 Abstract.
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.
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. Full text.
Zhou K, Yee SW, Seiser EL, Van Leeuwen N, Tavendale R, Bennett AJ, Groves CJ, Coleman RL, Van Der Heijden AA, Beulens JW, et al (2016). Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin. Nature Genetics, 48(9), 1055-1059. Abstract.
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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.  Full text.
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.  Full text.
Dujic T, Zhou K, Donnelly LA, Tavendale R, Palmer CNA, Pearson ER (2015). Association of organic cation transporter 1 with intolerance to metformin in type 2 diabetes: a GoDARTS study. Diabetes, 64(5), 1786-1793. Abstract.
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, 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.
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.  Full text.
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.  Full text.
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.  Full text.
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.  Full text.
Pearson ER (2015). Dissecting the etiology of type 2 diabetes in the pima Indian population. Diabetes, 64(12), 3993-3995.
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.  Full text.
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.  Full text.
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.
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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.  Full text.
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.  Full text.
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.  Full text.
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.  Full text.
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.  Full text.
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.  Full text.
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.
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. Full text.
De Franco E, Flanagan SE, Houghton JAL, Allen HL, 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. The Lancet, 386(9997), 957-963. Abstract.
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.  Full text.
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.  Full text.
Hattersley AT, Thorens B (2015). Type 2 Diabetes, SGLT2 Inhibitors, and Glucose Secretion. New England Journal of Medicine, 373(10), 974-976. Full text.
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. Nature Genetics, 46(8), 812-814. Abstract.
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.  Full text.
Lee HS, Burkhardt BR, Mcleod W, Smith S, Eberhard C, Lynch K, Hadley D, Rewers M, Simell O, She JX, et al (2014). Biomarker discovery study design for type 1 diabetes in the Environmental Determinants of Diabetes in the Young (TEDDY) study. Diabetes/Metabolism Research and Reviews, 30(5), 424-434. Abstract.
Zhou K, Donnelly LA, Morris AD, Franks PW, Jennison C, Palmer CNA, Pearson ER (2014). Clinical and genetic determinants of progression of type 2 diabetes: a direct study. Diabetes Care, 37(3), 718-724. Abstract.
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.  Full text.
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.  Full text.
Koivula RW, Heggie A, Barnett A, Cederberg H, Hansen TH, Koopman AD, Ridderstråle M, Rutters F, Vestergaard H, Gupta R, et al (2014). Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: Rationale and design of the epidemiological studies within the IMI DIRECT Consortium. Diabetologia, 57(6), 1132-1142. Abstract.
Koivula RW, Heggie A, Barnett A, Cederberg H, Hansen TH, Koopman AD, Ridderstråle M, Rutters F, Vestergaard H, Gupta R, et al (2014). Discovery of biomarkers for glycaemic deterioration before and after the onset of type 2 diabetes: rationale and design of the epidemiological studies within the IMI DIRECT Consortium. Diabetologia
Jones AG, McDonald TJ, Hattersley AT, Shields BM (2014). Effect of the holiday season in patients with diabetes: Glycemia and lipids increase postholiday, but the effect is small and transient. Diabetes Care, 37(5).
Oram RA, Jones AG, Besser RE, Knight BA, Shields BM, Brown RJ, Hattersley AT, McDonald TJ (2014). Erratum to: the majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells. Diabetologia, 57(1). Author URL.
Chen G-B, Lee SH, Brion M-JA, Montgomery GW, Wray NR, Radford-Smith GL, Visscher PM, International IBD Genetics Consortium (2014). Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data. Hum Mol Genet, 23(17), 4710-4720. Abstract.  Author URL.
Tillin T, Hughes AD, Whincup P, Mayet J, Sattar N, McKeigue PM, Chaturvedi N, SABRE Study Group (2014). Ethnicity and prediction of cardiovascular disease: performance of QRISK2 and Framingham scores in a U.K. tri-ethnic prospective cohort study (SABRE--Southall and Brent REvisited). Heart, 100(1), 60-67. Abstract.  Author URL.
Myngheer N, Allegaert K, Hattersley A, McDonald T, Kramer H, Ashcroft FM, Verhaeghe J, Mathieu C, Casteels K (2014). Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer of sulfonylurea in a mother with KCNJ11-related neonatal diabetes. Diabetes Care, 37(12), 3333-3335. Abstract.  Author URL.
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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.
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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.  Full text.
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.  Full text.
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.
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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 Full text.
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.
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.  Full text.
Frayling TM, Hattersley AT (2014). Physiology helps GWAS take a step closer to mechanism. Diabetes, 63(6), 1836-1837. Author URL.  Full text.
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.  Full text.
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.
Pearson E (2014). RD Lawrence Lecture 2013 Stratified approaches to the management of diabetes. Diabetic Medicine, 31(4), 393-398. Abstract.
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.
Wang SR, Agarwala V, Flannick J, Chiang CWK, Altshuler D, GoT2D Consortium, Hirschhorn JN (2014). Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am J Hum Genet, 94(5), 710-720. Abstract.  Author URL.
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.  Full text.
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.
Grant P, Velusamy A, Thomas E, Chakera AJ (2014). When to suspect 'funny' diabetes. Clinical Medicine, Journal of the Royal College of Physicians of London, 14(6), 663-666. Abstract.
Pearson E (2014). Zinc transport and diabetes risk. Nature Genetics, 46(4), 323-324. Abstract.
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.  Full text.
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.  Full text.
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.  Full text.
Gardiner A, George PS, Pearson E, McCrimmon RJ (2013). An interesting case of new-onset ketosis-prone diabetes in a Scottish teaching hospital. British Journal of Diabetes and Vascular Disease, 13(5-6), 265-268. Abstract.
Jones AG, Hill AV, Stewart J, Githens-Mazer G, Shields BM, McDonald TJ, Knight BA, Hattersley AT (2013). Baseline HbA1c is the major clinical predictor of glycaemic response to incretin based agents in Type 2 diabetes. DIABETIC MEDICINE, 30, 164-164. 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.
Grant P, Cheer K, Herring R, Chakera AJ, Brooks A, Little S, Wilmot E (2013). CSII experience among higher specialist trainees: a young diabetologists and endocrinologists forum survey. Practical Diabetes, 30(8), 332-335. Abstract.
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.  Full text.
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, 14(7), 535-538. Abstract.  Full text.
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
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.
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 KATP Channel (KCNJ11) Impair Coordinated Hand-Eye Tracking. PLoS ONE, 8(4). Abstract.
Franks PW, Pearson E, Florez JC (2013). Gene-environment and gene-treatment interactions in type 2 diabetes: Progress, pitfalls, and prospects. Diabetes Care, 36(5), 1413-1421.
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.  Full text.
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.
Liuc Y, Wang M, Morris AD, Doney ASF, Leese GP, Pearson ER, Palmer CNA (2013). Glycemic exposure and blood pressure influencing progression and remission of diabetic retinopathy: a longitudinal cohort study in GoDARTS. Diabetes Care, 36(12), 3979-3984. Abstract.
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.
Den Hoed M, Eijgelsheim M, Esko T, Brundel BJJM, Peal DS, Evans DM, Nolte IM, Segrè AV, Holm H, Handsaker RE, et al (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45(6), 621-631. 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.  Full text.
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.
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.  Full text.
Rena G, Pearson ER, Sakamoto K (2013). Molecular mechanism of action of metformin: Old or new insights?. Diabetologia, 56(9), 1898-1906. Abstract.
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.  Full text.
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.  Full text.
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.  Full text.
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.
Becker ML, Pearson ER, Tkáč I (2013). Pharmacogenetics of oral antidiabetic drugs. International Journal of Endocrinology, 2013 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.
Donnelly LA, Van Zuydam NR, Zhou K, Tavendale R, Carr F, Maitland-Van Der Zee AH, Leusink M, De Boer A, Doevendans PA, Asselbergs FW, et al (2013). Robust association of the LPA locus with low-density lipoprotein cholesterol lowering response to statin treatment in a meta-analysis of 30 467 individuals from both randomized control trials and observational studies and association with coronary artery disease outcome during statin treatment. Pharmacogenetics and Genomics, 23(10), 518-525. Abstract.
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.
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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
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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.  Full text.
Macfarlane DP, O'Sullivan EP, Dorman S, Allison J, Ellingford A, Pearson ER, Mires GJ, Leese GP (2013). The utility of retinal screening in gestational diabetes. Diabetic Medicine, 30(8), 1009-1010.
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.  Full text.
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.
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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.  Full text.
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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.
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.
George PS, Pearson ER, Witham MD (2012). Effect of vitamin D supplementation on glycaemic control and insulin resistance: a systematic review and meta-analysis. Diabetic Medicine, 29(8). Abstract.
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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.  Full text.
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.  Full text.
Colhoun HM, Livingstone SJ, Looker HC, Morris AD, Wild SH, Lindsay RS, Reed C, Donnan PT, Guthrie B, Leese GP, et al (2012). Hospitalised hip fracture risk with rosiglitazone and pioglitazone use compared with other glucose-Lowering drugs. Diabetologia, 55(11), 2929-2937. Abstract.
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.  Full text.
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.  Full text.
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.
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), 315-318. 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.
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 N, 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.
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), 307-314. 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.
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.  Full text.
Tillin T, Forouhi NG, McKeigue PM, Chaturvedi N, Chaturvedi N, Beauchamp N, Coady E, Collins R, Forouhi N, Gedroyc W, 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.
Chakera AJ, Vaidya B (2012). Spontaneously resolving Addison's disease. QJM, 105(11), 1113-1115. Author URL.
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.  Full text.
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.  Full text.
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.
Pearson ER (2012). Treating type 2 diabetes in youth: a depressing picture. Journal of the Royal College of Physicians of Edinburgh, 42(3).
Chakera AJ, Pearce SHS, Vaidya B (2012). Treatment for primary hypothyroidism: current approaches and future possibilities. Drug Des Devel Ther, 6, 1-11. Abstract.  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.
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Obeidat M, Wain LV, Shrine N, Kalsheker N, Artigas MS, Repapi E, Burton PR, Johnson T, Ramasamy A, Zhao JH, et al (2011). A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample. PLoS ONE, 6(5). Abstract.
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.  Full text.
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.
Ehret GB, Munroe PB, Rice KM, Bochud M, Johnson AD, Chasman DI, Smith AV, Tobin MD, Verwoert GC, Hwang S-J, et al (2011). Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. NATURE, 478(7367), 103-109. 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.
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.
Wain LV, Verwoert GC, O'Reilly PF, Shi G, Johnson T, Johnson AD, Bochud M, Rice KM, Henneman P, Smith AV, et al (2011). Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nature Genetics, 43(10), 1005-1012. Abstract.
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.
Petrie JR, Pearson ER, Sutherland C (2011). Implications of genome wide association studies for the understanding of type 2 diabetes pathophysiology. Biochemical Pharmacology, 81(4), 471-477. Abstract.
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.
George JT, Warriner D, Mcgrane DJ, Rozario KS, Price HC, Wilmot EG, Kar P, Stratton IM, Jude EB, McKay GA, et al (2011). Lack of confidence among trainee doctors in the management of diabetes: the Trainees Own Perception of Delivery of Care (TOPDOC) Diabetes Study. QJM, 104(9), 761-766. Abstract.
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.
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.
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.  Full text.
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.
Chakera AJ, Vaidya B (2010). Addison disease in adults: diagnosis and management. Am J Med, 123(5), 409-413. Abstract.  Author URL.
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.
Soranzo N, Sanna S, Wheeler E, Gieger C, Radke D, Dupuis J, Bouatia-Naji N, Langenberg C, Prokopenko I, Stolerman E, et al (2010). Common variants at 10 genomic loci influence hemoglobin A<inf>1C</inf>levels via glycemic and nonglycemic pathways. Diabetes, 59(12), 3229-3239. 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.
Logie L, Ruiz-Alcaraz AJ, Schofield CJ, Hundal HS, Feuerstein GZ, Brady JD, Crowther D, Tommasi AM, Grierson CE, Shepherd B, et al (2010). Generation, validation and humanisation of a novel insulin resistant cell model. Biochemical Pharmacology, 80(7), 1042-1049. 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.
Waterworth DM, Ricketts SL, Song K, Chen L, Zhao JH, Ripatti S, Aulchenko YS, Zhang W, Yuan X, Lim N, et al (2010). Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arteriosclerosis, Thrombosis, and Vascular Biology, 30(11), 2264-2276. Abstract.
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.
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.
Rudman A, Pearson ER, Smith D, Srivastava R, Murphy MJ, Leese GP (2010). Insulin resistance before and after parathyroidectomy in patients with primary hyperparathyroidisma pilot study. Endocrine Research, 35(2), 85-93. Abstract.
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.
Khadilkar VV, Khadilkar AV, Kapoor RR, Hussain K, Hattersley AT, Ellard S (2010). KCNJ11 activating mutation in an indian family with remitting and relapsing diabetes. Indian Journal of Pediatrics, 77(5), 551-554. Abstract.
Zhou K, Donnelly L, Burch L, Tavendale R, Doney ASF, Leese G, Hattersley AT, McCarthy MI, Morris AD, Lang CC, et al (2010). Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a go-DARTS study. Clinical Pharmacology and Therapeutics, 87(1), 52-56. Abstract.
Ille J, Putarek NR, Radica A, Hattersley A, Ellard S, Dumić M (2010). Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding KIR6.2. Lijecnicki Vjesnik, 132(3-4), 90-93. Abstract.
Shields BM, Hicks S, Shepherd MH, Colclough K, Hattersley AT, Ellard S (2010). Maturity-onset diabetes of the young (MODY): how many cases are we missing?. Diabetologia, 53(12), 2504-2508. Abstract.  Author URL.
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Ssteinthorsdottir V, Tthorleifsson G, Zillikens C, Sspeliotes EK, Mägi R, et al (2010). Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nature Genetics, 42(11), 949-960. Abstract.
Torsvik J, Johansson S, Johansen A, Ek J, Minton J, Raeder H, Ellard S, Hattersley A, Pedersen O, Hansen T, et al (2010). Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. Hum Genet, 127(1), 55-64. Abstract.  Author URL.
Oram RA, Edghill EL, Blackman J, Taylor MJO, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, et al (2010). Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol, 203(4), 364.e1-364.e5. Abstract.  Author URL.
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, et al (2010). New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet, 42(2), 105-116. Abstract.  Author URL.
Lango Allen H, Johansson S, Ellard S, Shields B, Hertel JK, Raeder H, Colclough K, Molven A, Frayling TM, Njølstad PR, et al (2010). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Diabetes, 59(1), 266-271. Abstract.  Author URL.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, et al (2010). Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America, 107(7), 3105-3110. Abstract.
Jones AG, Hattersley AT (2010). Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age. Nat Rev Endocrinol, 6(6), 347-351. Abstract.  Author URL.
Smith SB, Qu HQ, Taleb N, Kishimoto NY, Scheel DW, Lu Y, Patch AM, Grabs R, Wang J, Lynn FC, et al (2010). Rfx6 directs islet formation and insulin production in mice and humans. Nature, 463(7282), 775-780. Abstract.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2010). Role of low frequency variants in HNF1A exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform a to susceptibility to Type 2 diabetes. IRISH JOURNAL OF MEDICAL SCIENCE, 179, 538-538. Author URL.
Edghill EL, Minton JAL, Groves CJ, Flanagan SE, Patch A-M, Rubio-Cabezas O, Shepherd M, Lenzen S, McCarthy MI, Ellard S, et al (2010). Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP, 11(1), 14-17. Abstract.  Author URL.
Chakera A, Bunce S, Heppenstall C, Smith JC (2010). The effects of weight loss using dietary manipulation and rimonabant therapy on arterial stiffness in type 2 diabetes. Artery Research, 4(2), 47-51. Abstract.
Elmalti A, Hattersley A, Mandour O (2010). Transient neonatal diabetes re-presenting with type 2 diabetes at 12 years: Responds well to sulphonylureas. Practical Diabetes International, 27(1).
Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, et al (2010). Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nature Genetics, 42(7), 579-589. Abstract.
Freathy RM, Mook-Kanamori DO, Sovio U, Prokopenko I, Timpson NJ, Berry DJ, Warrington NM, Widen E, Hottenga JJ, Kaakinen M, et al (2010). Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. Nat Genet, 42(5), 430-435. Abstract.  Author URL.  Full text.
Rubio-Cabezas O, Patch AM, Minton JAL, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, et al (2010). Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families (J Clin Endocrinol Metab 94 (4162-4170)). Journal of Clinical Endocrinology and Metabolism, 95(3).
Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT (2009). A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet, 18(15), 2922-2927. Abstract.  Author URL.
Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT (2009). A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med, 26(4), 437-441. Abstract.  Author URL.
Vaidya B, Chakera AJ, Dick C (2009). Addison's disease. BMJ, 339 Author URL.
Donnelly LA, Morris AD, Pearson ER (2009). Adherence in patients transferred from immediate release metformin to a sustained release formulation: a population-based study. Diabetes, Obesity and Metabolism, 11(4), 338-342. Abstract.
Timpson NJ, Lindgren CM, Weedon MN, Randall J, Ouwehand WH, Strachan DP, Rayner NW, Walker M, Hitman GA, Doney ASF, et al (2009). Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes, 58(2), 505-510. Abstract.  Author URL.
Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CAJ, Petz O, Mannikko R, Kapoor RR, Hussain K, et al (2009). Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med(1), 166-177. Full text.
Shields B, Hill A, Bilous M, Knight B, Hattersley AT, Bilous RW, Vaidya B (2009). Cigarette smoking during pregnancy is associated with alterations in maternal and fetal thyroid function. J Clin Endocrinol Metab, 94(2), 570-574. Abstract.  Author URL.
Perry JRB, Ferrucci L, Bandinelli S, Guralnik J, Semba RD, Rice N, Melzer D, DIAGRAM Consortium, Saxena R, Scott LJ, et al (2009). Circulating beta-carotene levels and type 2 diabetes-cause or effect?. Diabetologia, 52(10), 2117-2121. Abstract.  Author URL.
Rubio-Cabezas O, Minton JAL, Caswell R, Shield JP, Deiss D, Sumnik Z, Cayssials A, Herr M, Loew A, Lewis V, et al (2009). Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care, 32(1), 111-116. Abstract.  Author URL.
Panicker V, Saravanan P, Vaidya B, Evans J, Hattersley AT, Frayling TM, Dayan CM (2009). Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. J Clin Endocrinol Metab, 94(5), 1623-1629. Abstract.  Author URL.
Craig ME, Hattersley A, Donaghue KC (2009). Definition, epidemiology and classification of diabetes in children and adolescents. Pediatric Diabetes, 10(SUPPL. 12), 3-12.
Johnson L, van Jaarsveld CHM, Emmett PM, Rogers IS, Ness AR, Hattersley AT, Timpson NJ, Smith GD, Jebb SA (2009). Dietary energy density affects fat mass in early adolescence and is not modified by FTO variants. PLoS One, 4(3). Abstract.  Author URL.
Vaidya B, Chakera AJ, Dick C (2009). Easily Missed? Addison's disease. BRITISH MEDICAL JOURNAL, 339 Author URL.
Yajnik CS, Janipalli CS, Bhaskar S, Kulkarni SR, Freathy RM, Prakash S, Mani KR, Weedon MN, Kale SD, Deshpande J, et al (2009). FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians. Diabetologia, 52(2), 247-252. Abstract.  Author URL.
Hennig BJ, Fulford AJ, Sirugo G, Rayco-Solon P, Hattersley AT, Frayling TM, Prentice AM (2009). FTO gene variation and measures of body mass in an African population. BMC Med Genet, 10 Abstract.  Author URL.
Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, et al (2009). Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genetics, 5(6). Abstract.
Lindgren CM, Heid IM, Randall JC, Lamina C, Steinthorsdottir V, Qi L, Speliotes EK, Thorleifsson G, Willer CJ, Herrera BM, et al (2009). Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution. PLoS Genetics, 5(6). Abstract.
Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, Coin L, Najjar SS, Zhao JH, Heath SC, Eyheramendy S, et al (2009). Genome-wide association study identifies eight loci associated with blood pressure. Nature Genetics, 41(6), 666-676. Abstract.
Jose B, Griffiths U, Barrett T, Hattersley AT, Milles JJ (2009). Glibenclamide controls ketosis-prone diabetes in a 38-year-old woman with Kir6.2 mutation. Practical Diabetes International, 26(6). Abstract.
Murphy R, Tura A, Clark PM, Holst JJ, Mari A, Hattersley AT (2009). Glucokinase, the pancreatic glucose sensor, is not the gut glucose sensor. Diabetologia, 52(1), 154-159. Abstract.  Author URL.
Abdul-Rahman OA, Edghill EL, Kwan A, Enns GM, Hattersley AT (2009). Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta. J Pediatr Hematol Oncol, 31(7), 527-529. Abstract.  Author URL.
Raile K, Galler A, O'Conell M, Werther G, Mohnike W, Kuehnen P, Hattersley A, Krude H, Blankenstein O (2009). Insulin gene (INS) deletion causes neonatal and adult-onset diabetes. HORMONE RESEARCH, 72, 300-300. Author URL.
Perry JRB, McCarthy MI, Hattersley AT, Zeggini E, Wellcome Trust Case Control Consortium, Weedon MN, Frayling TM (2009). Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach. Diabetes, 58(6), 1463-1467. Abstract.  Author URL.
Prokopenko I, Zeggini E, Hanson RL, Mitchell BD, Rayner NW, Akan P, Baier L, Das SK, Elliott KS, Fu M, et al (2009). Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q. Diabetes, 58(7), 1704-1709. Abstract.  Author URL.
Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL (2009). Low Frequency Variants in the Exons Only Encoding Isoform a of HNF1A Do Not Contribute to Susceptibility to Type 2 Diabetes. PLOS ONE, 4(8). Author URL.
Hameed S, Verge CF, Ellard S, Woodhead H, Neville K, Walker JL, Craig M, Eisenbarth G, Armstrong T, Yu L, et al (2009). Monogenic diabetes in children initially diagnosed with type 1 diabetes: a role for autoantibody testing. HORMONE RESEARCH, 72, 215-215. Author URL.
Klupa T, Kowalska I, Wyka K, Skupien J, Patch A-M, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, et al (2009). Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype. Clin Endocrinol (Oxf), 71(3), 358-362. Abstract.  Author URL.
Edghill EL, Hameed S, Verge CF, Rubio-Cabezas O, Argente J, Sumnik Z, Dusatkova P, Cliffe ST, Hennekam RCM, Buckley MF, et al (2009). Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. JOP, 10(4), 457-458. Author URL.
Edghill EL, McCulloch L, Fulton P, Beer N, Hattersley AT, Gloyn AL (2009). Mutations in the third gene shown to alter fasting glucose levels in the population (G6PC2) are not a common cause of monogenic forms of pancreatic B-cell dysfunction. Diabet Med, 26(1), 113-114. Author URL.
Conn JJ, Simm PJ, Oats JJN, Nankervis AJ, Jacobs SE, Ellard S, Hattersley AT (2009). Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. Australian and New Zealand Journal of Obstetrics and Gynaecology, 49(3), 328-330. Abstract.
Rubio-Cabezas O, Codner E, Jensen JN, Hodgson MI, Serup P, Ellard S, Hattersley AT (2009). Neurogenin 3 deficiency is a novel cause of permanent neonatal diabetes and severe congenital diarrhea. HORMONE RESEARCH, 72, 61-62. Author URL.
Dimitri P, Warner JT, Minton JAL, Ellard S, Hattersley AT, Barr SM, Hawkes DJ, Wales JK, Gregory JW (2009). Novel GLIS3 mutations in two patients with resistant hypothyroidism, neonatal diabetes, hepatitis, renal cystic dysplasia, osteopenia and pancreatic exocrine dysfunction. HORMONE RESEARCH, 72, 35-35. Author URL.
Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, et al (2009). Parental origin of sequence variants associated with complex diseases. Nature, 462(7275), 868-874. Abstract.
Pearson ER (2009). Pharmacogenetics and future strategies in treating hyperglycaemia in diabetes. Frontiers in Bioscience, 14(11), 4348-4362. Abstract.
Pearson ER (2009). Pharmacogenetics in diabetes. Current Diabetes Reports, 9(2), 172-181. Abstract.
Shields BM, Freathy RM, Knight BA, Hill A, Weedon MN, Frayling TM, Hattersley AT, Vaidya B (2009). Phosphodiesterase 8B gene polymorphism is associated with subclinical hypothyroidism in pregnancy. J Clin Endocrinol Metab, 94(11), 4608-4612. Abstract.  Author URL.
Spyer G, Macleod KM, Shepherd M, Ellard S, Hattersley AT (2009). Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation. Diabet Med, 26(1), 14-18. Abstract.  Author URL.
Oram RA, Edghill EL, Woolf AS, Hennekam RC, Ellard S, Hattersley AT, Bingham C (2009). RET gene mutations are not a common cause of congenital solitary functioning kidney in adults. NDT Plus, 2(2), 183-184.
Zhou K, Donnelly LA, Kimber CH, Donnan PT, Doney ASF, Leese G, Hattersley AT, McCarthy MI, Morris AD, Palmer CNA, et al (2009). Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study. Diabetes, 58(6), 1434-1439. Abstract.  Author URL.
Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S, et al (2009). Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia, 52(8), 1683-1685. Author URL.  Full text.
Willer CJ, Speliotes EK, Loos RJF, Li S, Lindgren CM, Heid IM, Berndt SI, Elliott AL, Jackson AU, Lamina C, et al (2009). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet, 41(1), 25-34. Abstract.  Author URL.
McDonald TJ, Knight BA, Shields BM, Bowman P, Salzmann MB, Hattersley AT (2009). Stability and reproducibility of a single-sample urinary C-peptide/creatinine ratio and its correlation with 24-h urinary C-peptide. Clin Chem, 55(11), 2035-2039. Abstract.  Author URL.
Rubio-Cabezas O, Edghill EL, Argente J, Hattersley AT (2009). Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. Diabet Med, 26(10), 1070-1074. Abstract.  Author URL.
Doney ASF, Dannfald J, Kimber CH, Donnelly LA, Pearson E, Morris AD, Palmer CNA (2009). The FTO gene is associated with an atherogenic lipid profile and myocardial infarction in patients with type 2 diabetes :A Genetics of Diabetes Audit and Research Study in Tayside Scotland (Go-DARTS) Study. Circulation: Cardiovascular Genetics, 2(3), 255-259. Abstract.
Webster RJ, Warrington NM, Weedon MN, Hattersley AT, McCaskie PA, Beilby JP, Palmer LJ, Frayling TM (2009). The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits. Diabetologia, 52(1), 106-114. Abstract.  Author URL.
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue KC (2009). The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes, 10 Suppl 12, 33-42. Author URL.
Kumaraguru J, Flanagan SE, Greeley SAW, Nuboer R, Støy J, Philipson LH, Hattersley AT, Rubio-Cabezas O (2009). Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care, 32(8), 1428-1430. Abstract.  Author URL.  Full text.
Wagner VM, Kremke B, Hiort O, Flanagan SE, Pearson ER (2009). Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy. Eur J Pediatr, 168(3), 359-361. Abstract.  Author URL.
Pearson ER (2009). Translating TCF7L2: from gene to function. Diabetologia, 52(7), 1227-1230.
Freathy RM, Bennett AJ, Ring SM, Shields B, Groves CJ, Timpson NJ, Weedon MN, Zeggini E, Lindgren CM, Lango H, et al (2009). Type 2 diabetes risk alleles are associated with reduced size at birth. Diabetes, 58(6), 1428-1433. Abstract.  Author URL.
Salanti G, Southam L, Altshuler D, Ardlie K, Barroso I, Boehnke M, Cornelis MC, Frayling TM, Grallert H, Grarup N, et al (2009). Underlying genetic models of inheritance in established type 2 diabetes associations. American Journal of Epidemiology, 170(5), 537-545. Abstract.
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, et al (2009). Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab
Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM, et al (2008). A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications. Diabetologia, 51(5), 802-810. Abstract.  Author URL.  Full text.
Panicker V, Cluett C, Shields B, Murray A, Parnell KS, Perry JRB, Weedon MN, Singleton A, Hernandez D, Evans J, et al (2008). A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab, 93(8), 3075-3081. Abstract.  Author URL.
Thomas CP, Erlandson JC, Edghill EL, Hattersley AT, Stolpen AH (2008). A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes. Kidney Int, 74(8), 1094-1099. Author URL.
de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MSP, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM (2008). A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. EMBO Rep, 9(7), 648-654. Abstract.  Author URL.
Lango H, UK Type 2 Diabetes Genetics Consortium, Palmer CNA, Morris AD, Zeggini E, Hattersley AT, McCarthy MI, Frayling TM, Weedon MN (2008). Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Diabetes, 57(11), 3129-3135. Abstract.  Author URL.
Ellard S, Bellanné-Chantelot C, Hattersley AT, European Molecular Genetics Quality Network (EMQN) MODY group (2008). Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia, 51(4), 546-553. Abstract.  Author URL.
Rubio-Cabezas O, AL Minton J, Shield JPH, Ellard S, Hattersley AT (2008). Clinical and molecular heterogeneity among patients with permanent neonatal diabetes and. HORMONE RESEARCH, 70, 38-38. Author URL.
Murphy R, Turnbull DM, Walker M, Hattersley AT (2008). Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation. Diabet Med, 25(4), 383-399. Abstract.  Author URL.
Murphy R, Ellard S, Hattersley AT (2008). Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab, 4(4), 200-213. Abstract.  Author URL.
Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, et al (2008). Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. Diabetes Care, 31(9), 1736-1737. Abstract.  Author URL.
Loos RJF, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, et al (2008). Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet, 40(6), 768-775. Abstract.  Author URL.
Freathy RM, Timpson NJ, Lawlor DA, Pouta A, Ben-Shlomo Y, Ruokonen A, Ebrahim S, Shields B, Zeggini E, Weedon MN, et al (2008). Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI. Diabetes, 57(5), 1419-1426. Abstract.  Author URL.
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SFA, Farlow DN, et al (2008). Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One, 3(10). Abstract.  Author URL.
Harries LW, Sloman MJ, Sellers EAC, Hattersley AT, Ellard S (2008). Diabetes susceptibility in the canadian Oji-Cree population is moderated by abnormal mRNA processing of HNF1A G319S transcripts. Diabetes, 57(7), 1978-1982. Abstract.
Longley N, Muzoora C, Taseera K, Mwesigye J, Rwebembera J, Chakera A, Wall E, Andia I, Jaffar S, Harrison TS, et al (2008). Dose response effect of high-dose fluconazole for HIV-associated cryptococcal meningitis in southwestern Uganda. Clinical Infectious Diseases, 47(12), 1556-1561. Abstract.
Rafiq M, Flanagan SE, Patch A-M, Shields BM, Ellard S, Hattersley AT, Neonatal Diabetes International Collaborative Group (2008). Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31(2), 204-209. Abstract.  Author URL.
Manna TD, Battistim C, Radonsky V, Kuperman H, Damiani D, Kok F, Pearson E, Hattersley A, Reis AF (2008). Efficacy of glibenclamide treatment in a child with permanent neonatal diabetes mellitus due to a KCNJ11 (Kir6.2) mutation. HORMONE RESEARCH, 70, 245-245. Author URL.
Flanagan SE, Patch AM, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2008). Erratum: Mutations in ATP-sensitive K+ cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937)). Diabetes, 57(2).
Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD (2008). Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Medicine, 5(3), 0484-0493. Abstract.
Lawlor DA, Timpson NJ, Harbord RM, Leary S, Ness A, McCarthy MI, Frayling TM, Hattersley AT, Smith GD (2008). Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable. PLoS Med, 5(3). Abstract.  Author URL.
Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Duong NT, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, et al (2008). Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. American Journal of Medical Genetics, Part A, 146(12), 1530-1542. Abstract.
Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, et al (2008). Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A, 146A(12), 1530-1542. Abstract.  Author URL.
Rafiq S, Melzer D, Weedon MN, Lango H, Saxena R, Scott LJ, DIAGRAM Consortium, Palmer CNA, Morris AD, McCarthy MI, et al (2008). Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. Diabetologia, 51(12), 2205-2213. Abstract.  Author URL.
Edghill EL, Hattersley AT (2008). Genetic disorders of the pancreatic beta cell and diabetes (permanent neonatal diabetes and maturity-onset diabetes of the young). , 399-430. Abstract.
Flanagan S, Edghill E, Patch A-M, Minton J, Ellard S, Hattersley A (2008). Genetic heterogeneity in permanent neonatal diabetes. HORMONE RESEARCH, 70, 38-38. Author URL.
Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, Mangino M, Freathy RM, Perry JRB, Stevens S, Hall AS, et al (2008). Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet, 40(5), 575-583. Abstract.  Author URL.
Della Manna T, Battistim C, Radonsky V, Savoldelli RD, Damiani D, Kok F, Pearson ER, Ellard S, Hattersley AT, Reis AF, et al (2008). Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. Arq Bras Endocrinol Metabol, 52(8), 1350-1355. Abstract.  Author URL.
Edghill EL, Oram RA, Owens M, Stals KL, Harries LW, Hattersley AT, Ellard S, Bingham C (2008). Hepatocyte nuclear factor-1beta gene deletions--a common cause of renal disease. Nephrol Dial Transplant, 23(2), 627-635. Abstract.  Author URL.
Mackay DJG, Callaway JLA, Marks SM, White HE, Acerini CL, Boonen SE, Dayanikli P, Firth HV, Goodship JA, Haemers AP, et al (2008). Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57. Nat Genet, 40(8), 949-951. Abstract.  Author URL.
Murphy R, Clark PM, Holst JJ, Hattersley AT (2008). Incretin secretion is independent of glucokinase function. DIABETES RESEARCH AND CLINICAL PRACTICE, 79, S19-S19. Author URL.
Edghill EL, Flanagan SE, Patch A-M, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, et al (2008). Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57(4), 1034-1042. Abstract.  Author URL.
Kidder D, Pearson E, Davidson J, Swaminathan K, Petrie JR (2008). Ketoacidosis with pulmonary embolism: a formula to detect clots?. British Journal of Diabetes and Vascular Disease, 8(6).
Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JH, Song K, Yuan X, Johnson T, Ashford S, et al (2008). LDL-cholesterol concentrations: a genome-wide association study. The Lancet, 371(9611), 483-491. Abstract.
McCarthy MI, Hattersley AT (2008). Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes, 57(11), 2889-2898. Author URL.
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PIW, Abecasis GR, Almgren P, Andersen G, et al (2008). Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet, 40(5), 638-645. Abstract.  Author URL.
Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn A-L, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2008). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007). DIABETES, 57(2), 523-523. Author URL.
Shields BM, Spyer G, Slingerland AS, Knight BA, Ellard S, Clark PM, Hauguel-de Mouzon S, Hattersley AT (2008). Mutations in the glucokinase gene of the fetus result in reduced placental weight. Diabetes Care, 31(4), 753-757. Abstract.  Author URL.
Evans JMM, Ogston SA, Reimann F, Gribble FM, Morris AD, Pearson ER (2008). No differences in mortality between users of pancreatic-specific and non-pancreatic-specific sulphonylureas: a cohort analysis. Diabetes, Obesity and Metabolism, 10(4), 350-352. Abstract.
Kapoor RR, Locke J, Colclough K, Wales J, Conn JJ, Hattersley AT, Ellard S, Hussain K (2008). Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations. Diabetes, 57(6), 1659-1663. Abstract.  Author URL.
Barroso I, Luan J, Wheeler E, Whittaker P, Wasson J, Zeggini E, Weedon MN, Hunt S, Venkatesh R, Frayling TM, et al (2008). Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies. Diabetes, 57(11), 3161-3165. Abstract.  Author URL.
Slingerland AS, Hattersley A (2008). Prevalence and incidence of a newly defined type of diabetes in children, adolescents, and adults in the largest international series to date. PEDIATRICS, 121, S115-S116. Author URL.
Pearson ER (2008). Recent advances in the genetics of diabetes. Primary Care Diabetes, 2(2), 67-72. Abstract.
Stratigopoulos G, Padilla SL, LeDuc CA, Watson E, Hattersley AT, McCarthy MI, Zeltser LM, Chung WK, Leibel RL (2008). Regulation of Fto/Ftm gene expression in mice and humans(vol 294, pg R1185, 2008). AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY, 295(4), R1360-R1363. Author URL.
Stratigopoulos G, Padilla SL, LeDuc CA, Watson E, Hattersley AT, McCarthy MI, Zeltser LM, Chung WK, Leibel RL (2008). Regulation of Fto/Ftm gene expression in mice and humans. Am J Physiol Regul Integr Comp Physiol, 294(4), R1185-R1196. Abstract.  Author URL.
Evans JMM, Pearson ER (2008). Response to Professor John a Tayek's letter on SUR receptor activity. Diabetes, Obesity and Metabolism, 10(11), 1129-1130.
Murphy R, Baptista J, Holly J, Umpleby AM, Ellard S, Harries LW, Crolla J, Cundy T, Hattersley AT (2008). Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene. J Clin Endocrinol Metab, 93(11), 4373-4380. Abstract.  Author URL.
Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M (2008). Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med, 25(3), 277-281. Abstract.  Author URL.
Harries LW, Locke JM, Shields B, Hanley NA, Hanley KP, Steele A, Njølstad PR, Ellard S, Hattersley AT (2008). The diabetic phenotype in HNF4A mutation carriers is moderated by the expression of HNF4A isoforms from the P1 promoter during fetal development. Diabetes, 57(6), 1745-1752. Abstract.  Author URL.
Timpson NJ, Emmett PM, Frayling TM, Rogers I, Hattersley AT, McCarthy MI, Davey Smith G (2008). The fat mass- and obesity-associated locus and dietary intake in children. Am J Clin Nutr, 88(4), 971-978. Abstract.  Author URL.
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JRB, Elliott KS, Lango H, Rayner NW, et al (2007). A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science, 316(5826), 889-894. Abstract.  Author URL.
Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, Perry JRB, Elliott KS, Hackett R, Guiducci C, Shields B, et al (2007). A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat Genet, 39(10), 1245-1250. Abstract.  Author URL.
Frayling T, Hurst A, Murray A, Melzer D (2007). A common variant of the p16(INK4a) genetic region is associated with physical function in older people. Mechanisms of Ageing and Development, 128(5-6), 370-377.
Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F (2007). A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology, 69(13), 1342-1349. Abstract.  Author URL.
Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Walker M, Gillespie KM, Bingley PJ, Hitman GA, et al (2007). An association analysis of the HLA gene region in latent autoimmune diabetes in adults. Diabetologia, 50(1), 68-73. Abstract.  Author URL.
Meirhaeghe A, Sandhu MS, McCarthy MI, de Groote P, Cottel D, Arveiler D, Ferrières J, Groves CJ, Hattersley AT, Hitman GA, et al (2007). Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations. Hum Mol Genet, 16(11), 1343-1350. Abstract.  Author URL.
Wellcome Trust Case Control Consortium, Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, et al (2007). Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet, 39(11), 1329-1337. Abstract.  Author URL.
Sandhu MS, Weedon MN, Fawcett KA, Wasson J, Debenham SL, Daly A, Lango H, Frayling TM, Neumann RJ, Sherva R, et al (2007). Common variants in WFS1 confer risk of type 2 diabetes. Nat Genet, 39(8), 951-953.