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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

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

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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


Journal articles

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.
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.
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.
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.
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.
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.
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.
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.
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.
Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, et al (2017). A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population is Associated with Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes, 66(7), 2019-2032. Abstract.  Author URL.  Full text.
Katanic D, Vorgučin I, Hattersley A, Ellard S, Houghton JAL, Obreht D, Knežević Pogančev M, Vlaški J, Pavkov D (2017). A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up. Diabetes Res Clin Pract, 129, 59-61. Abstract.  Author URL.
Scott RA, Scott LJ, Mägi R, Marullo L, Gaulton KJ, Kaakinen M, Pervjakova N, Pers TH, Johnson AD, Eicher JD, et al (2017). An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. Diabetes, 66(11), 2888-2902. Abstract.  Author URL.
De Franco E, Caswell R, Houghton JAL, Iotova V, Hattersley AT, Ellard S (2017). Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med, 34(4), 582-585. Abstract.  Author URL.  Full text.
Hope SV, Taylor PJ, Shields BM, Hattersley AT, Hamilton W (2017). Are we missing hypoglycaemia?. Elderly patients with insulin-treated diabetes present to. primary care frequently with non-specific symptoms. associated with hypoglycaemia. Primary Care Diabetes Full text.
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.
Lonergan M, Senn SJ, McNamee C, Daly AK, Sutton R, Hattersley A, Pearson E, Pirmohamed M (2017). Defining drug response for stratified medicine. Drug Discov Today, 22(1), 173-179. Abstract.  Author URL.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.  Full text.
Thomas NJ, Jones SE, Weedon MN, Shields BM, Oram RA, Hattersley AT (2017). 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 Abstract.  Author URL.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). Abstract.  Author URL.  Full text.
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.
Hilbrands R, Keymolen K, Michotte A, Marichal M, Cools F, Goossens A, Veld PI, De Schepper J, Hattersley A, Heimberg H, et al (2017). Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. BMC Med Genet, 18(1). Abstract.  Author URL.  Full text.
Hattersley AT, Patel KA (2017). Precision diabetes: learning from monogenic diabetes. Diabetologia, 60(5), 769-777. Abstract.  Author URL.  Full text.
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.
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.
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.
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, et al (2016). A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet, 48(10), 1279-1283. Abstract.  Author URL.  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.
Williams GM, Long AE, Wilson IV, Aitken RJ, Wyatt RC, McDonald TJ, Wong FS, Hattersley AT, Williams AJK, Bingley PJ, et al (2016). Beta cell function and ongoing autoimmunity in long-standing, childhood onset type 1 diabetes. Diabetologia, 59(12), 2722-2726. Abstract.  Author URL.  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 (2016). Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int, 90(1), 203-211. Abstract.  Author URL.  Full text.
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.
Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, et al (2016). Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia, 59(7), 1463-1473. Abstract.  Author URL.  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.
Yaghootkar H, Lotta LA, Tyrrell J, Smit RAJ, Jones SE, Donnelly L, Beaumont R, Campbell A, Tuke MA, Hayward C, et al (2016). Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease. Diabetes, 65(8), 2448-2460. Abstract.  Author URL.  Full text.
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.
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.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.  Full text.
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.
Johnson MB, Hattersley AT, Flanagan SE (2016). 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 (2016). Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Diabetologia, 59(7), 1430-1436. Abstract.  Author URL.  Full text.
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.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (2016). Psychiatric morbidity in children with KCNJ11 neonatal diabetes. Diabet Med, 33(10), 1387-1391. Abstract.  Author URL.  Full text.
Hope SV, Knight BA, Shields BM, Hattersley AT, McDonald TJ, Jones AG (2016). Random non-fasting C-peptide: bringing robust assessment of endogenous insulin secretion to the clinic. Diabet Med, 33(11), 1554-1558. Abstract.  Author URL.  Full text.
Qureshi SA, Burch N, Druce M, Hattersley JG, Khan S, Gopalakrishnan K, Darby C, Wong JLH, Davies L, Fletcher S, et al (2016). Screening for malnutrition in patients with gastro-entero-pancreatic neuroendocrine tumours: a cross-sectional study. BMJ Open, 6(5). Abstract.  Author URL.
Jones AG, Lonergan M, Henley WE, Pearson ER, Hattersley AT, Shields BM (2016). Should Studies of Diabetes Treatment Stratification Correct for Baseline HbA1c?. PLoS One, 11(4). Abstract.  Author URL.  Full text.
Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT (2016). South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people. Diabetologia, 59(10), 2262-2265. Author URL.  Full text.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (2016). Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia, 59(6), 1162-1166. Abstract.  Author URL.  Full text.
Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, et al (2016). Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population with Monogenic Diabetes. Diabetes Care, 39(11), 1879-1888. Abstract.  Author URL.  Full text.
Laver TW, Colclough K, Shepherd M, Patel K, Houghton JAL, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, et al (2016). The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes, 65(10), 3212-3217. Abstract.  Author URL.  Full text.
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.
Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, et al (2015). A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly. Diabetes, 64(11), 3951-3962. Abstract.  Author URL.
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.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. European Journal of Human Genetics, 23(12), 1744-1748. Abstract.
Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12), 1744-1748. Abstract.  Author URL.  Full text.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12). Author URL.
Pers TH, Karjalainen JM, Chan Y, Westra H-J, Wood AR, Yang J, Lui JC, Vedantam S, Gustafsson S, Esko T, et al (2015). Biological interpretation of genome-wide association studies using predicted gene functions. Nat Commun, 6 Abstract.  Author URL.  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.
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.
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.
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.
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.
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.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, et al (2014). GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63(8), 2888-2894. Abstract.  Author URL.  Full text.
Hara K, Fujita H, Johnson TA, Yamauchi T, Yasuda K, Horikoshi M, Peng C, Hu C, Ma RCW, Imamura M, et al (2014). Genome-wide association study identifies three novel loci for type 2 diabetes. Hum Mol Genet, 23(1), 239-246. Abstract.  Author URL.
Cousminer DL, Stergiakouli E, Berry DJ, Ang W, Groen-Blokhuis MM, Körner A, Siitonen N, Ntalla I, Marinelli M, Perry JRB, et al (2014). Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty. Human Molecular Genetics, 23(16), 4452-4464. Abstract.
Mahajan A, Go MJ, Zhang W, Below JE, Gaulton KJ, Ferreira T, Horikoshi M, Johnson AD, Ng MCY, Prokopenko I, et al (2014). Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. NATURE GENETICS, 46(3), 234-+. Author URL.
Oram RA, Brooks AM, Forbes S, Eckoldt S, Smith RM, Choudhary P, Rosenthal MJ, Johnson P, Rutter MK, Burling KA, et al (2014). Home urine C-peptide creatinine ratio can be used to monitor islet transplant function. Diabetes Care, 37(6), 1737-1740. Abstract.  Author URL.
Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R, Roef GL, Plantinga TS, Vermeulen SH, et al (2014). Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genet, 10(2). Abstract.  Author URL.  Full text.
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.
Hattersley AT, Marcovecchio ML, Chiarelli F, Silverstein J, Heller S, Damm P, Mathiesen ER, Zinman B, Sinclair A (2014). Lifecourse: management of type 1 diabetes. LANCET DIABETES & ENDOCRINOLOGY, 2(3), 194-195. Author URL.
Ng MCY, Shriner D, Chen BH, Li J, Chen WM, Guo X, Liu J, Bielinski SJ, Yanek LR, Nalls MA, et al (2014). Meta-Analysis of Genome-Wide Association Studies in African Americans Provides Insights into the Genetic Architecture of Type 2 Diabetes. PLoS Genetics, 10(8). Abstract.
Liu C-T, Buchkovich ML, Winkler TW, Heid IM, African Ancestry Anthropometry Genetics Consortium, GIANT Consortium, Borecki IB, Fox CS, Mohlke KL, North KE, et al (2014). Multi-ethnic fine-mapping of 14 central adiposity loci. Hum Mol Genet, 23(17), 4738-4744. Abstract.  Author URL.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia, 57(11), 2421-2424.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia Full text.
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.
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.
Oram RA, Jones AG, Besser REJ, Knight BA, Shields BM, Brown RJ, Hattersley AT, McDonald TJ (2014). The majority of patients with long-duration type 1 diabetes are insulin microsecretors and have functioning beta cells. Diabetologia, 57(1), 187-191. Abstract.
Chakera AJ, Raimondo A, Homsen S, Colclough K, Barrett A, De-Franco E, Chatelas A, van de Bunt M, Flanagan SE, Hattersley AT, et al (2014). The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity. DIABETOLOGIA, 57, S155-S155. Author URL.
Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, den Heijer M, Freathy RM, et al (2013). A Meta-Analysis of Thyroid-Related Traits Reveals Novel Loci and Gender-Specific Differences in the Regulation of Thyroid Function. PLoS Genetics, 9(2). Abstract.  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.
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.
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
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).
Nowak N, Szopa M, Thanabalasingham G, McDonald TJ, Colclough K, Skupien J, James TJ, Kiec-Wilk B, Kozek E, Mlynarski W, et al (2013). Cystatin C is not a good candidate biomarker for HNF1A-MODY. ACTA DIABETOLOGICA, 50(5), 815-820. Author URL.
Shankar RK, Ellard S, Standiford D, Pihoker C, Gilliam LK, Hattersley A, Dolan LM (2013). Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes. Pediatric Diabetes
Shankar RK, Ellard S, Standiford D, Pihoker C, Gilliam LK, Hattersley A, Dolan LM (2013). Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes. Pediatric Diabetes, 14(7), 535-538. Abstract.  Full text.
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.
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.
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.
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.
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.
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.
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.
Jones AG, Knight BA, Baker GC, Hattersley AT (2013). Practical implications of choice of test in National Institute for Health and Clinical Excellence (NICE) guidance for the prevention of Type 2 diabetes. Diabet Med, 30(1), 126-127. Author URL.
Steele AM, Wensley KJ, Brewer E, Shields BM, Hattersley AT, McDonald TJ (2013). Preanalytical sample handling of venous blood: How to ensure your glucose measurement is accurate and reliable. Practical Diabetes, 30(3), 128-131. Abstract.
Pihoker C, Gilliam LK, Ellard S, Dabelea D, Davis C, Dolan LM, Greenbaum CJ, Imperatore G, Lawrence JM, Marcovina SM, et al (2013). Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth. J Clin Endocrinol Metab, 98(10), 4055-4062. Abstract.  Author URL.
Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodriguez-Segui SA, Shaw-Smith C, Cho CH, Allen HL, et al (2013). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nature Genetics
Babiker T, Chakera AJ, Shepherd M, Hattersley AT (2013). Remitting diabetes in young European Whites: a novel syndrome. DIABETIC MEDICINE, 30, 98-98. Author URL.
Shields BM, Henley W, Besser REJ, Hattersley AT, Ludvigsson J (2013). Response to Comment on: Besser et al. Lessons from the Mixed-Meal Tolerance Test: Use of 90-Minute and Fasting C-Peptide in Pediatric Diabetes. Diabetes Care 2013;36:195-201. DIABETES CARE, 36(12), E222-E222. Author URL.
Chakera AJ, Carleton VL, Shields B, Ross GP, Hattersley AT (2013). Response to Comment on: Chakera et al. Antenatal diagnosis of fetal genotype determines if maternal hyperglycemia due to a glucokinase mutation requires treatment. Diabetes Care 2012;35:1832-1834. Diabetes Care, 36(1). Author URL.
Eininger AK, Oram RA, Friend PJ, Asderakis A, Winearls CG, Hattersley AT, Owen KR (2013). Simultaneous pancreas and kidney transplantation (SPK) should be indicated for patients with maturity-onset diabetes of the young (MODY) and end-stage nephropathy. DIABETIC MEDICINE, 30, 92-93. Author URL.
Chakera AJ, Ellard S, Hattersley AT, Dunne F (2013). Targeted screening for Glucokinase mutations in pregnancy allows us to find half of the missing cases of glucokinase monogenic diabetes: the Atlantic Diabetes in Pregnancy cohort. DIABETIC MEDICINE, 30, 11-11. Author URL.
Prudente S, Copetti M, Morini E, Mendonca C, Andreozzi F, Chandalia M, Baratta R, DIAGRAM consortium, Pellegrini F, Mercuri L, et al (2013). The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry. Nutr Metab Cardiovasc Dis, 23(11), 1043-1049. Abstract.  Author URL.
Thong KY, Mcdonald TJ, Hattersley AT, Blann AD, Ramtoola S, Duncan C, Carr S, Adamson K, Nayak AU, Khurana R, et al (2013). The association between postprandial urinary C-peptide creatinine ratio and the treatment response to liraglutide: a multi-centre observational study. Diabetic Medicine
Jones AG, Hattersley AT (2013). The clinical utility of C-peptide measurement in the care of patients with diabetes. Diabetic Medicine, 30(7), 803-817. Abstract.  Full text.
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.
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.
Maller JB, McVean G, Byrnes J, Vukcevic D, Palin K, Su Z, Howson JMM, Auton A, Myers S, Morris A, et al (2012). Bayesian refinement of association signals for 14 loci in 3 common diseases. Nature Genetics
Maller JB, McVean G, Byrnes J, Vukcevic D, Palin K, Su Z, Howson JMM, Auton A, Myers S, Morris A, et al (2012). Bayesian refinement of association signals for 14 loci in 3 common diseases. Nature Genetics, 44(12), 1294-1301. Abstract.
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Moller E, Bradfield JP, Freathy RM, et al (2012). Common variants at 12q15 and 12q24 are associated with infant head circumference. NATURE GENETICS, 44(5), 532-+. Author URL.
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.
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.
Albrechtsen A, Grarup N, Li Y, Sparsø T, Tian G, Cao H, Jiang T, Kim SY, Korneliussen T, Li Q, et al (2012). Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia, 1-13.
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.
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.
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 ATP 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.
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.
Besser REJ, Jones J, McDonald TJ, Smith R, Shepherd MH, Hattersley AT (2012). Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes. BMJ Case Reports Abstract.
Besser REJ, Jones J, McDonald TJ, Smith R, Shepherd MH, Hattersley AT (2012). Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes. BMJ case reports, 2012 Abstract.
Bowman P, McDonald TJ, Shields BM, Knight BA, Hattersley AT (2012). Validation of a single-sample urinary C-peptide creatinine ratio as a reproducible alternative to serum C-peptide in patients with Type 2 diabetes. Diabet Med, 29(1), 90-93. Abstract.  Author URL.
Männikkö R, Stansfeld PJ, Ashcroft AS, Hattersley AT, Sansom MSP, Ellard S, Ashcroft FM (2011). A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated. Journal of Physiology, 589(13), 3071-3083. Abstract.
Shepherd M, Cropper J, Flanagan S, Ellard S, Hattersley A (2011). A diagnosis of monogenic neonatal diabetes can improve treatment and glycaemic control. Journal of Diabetes Nursing, 15(1).
Taylor PN, Panicker V, Sayers A, Shields B, Iqbal A, Bremner AP, Beilby JP, Leedman PJ, Hattersley AT, Vaidya B, et al (2011). A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement. Eur J Endocrinol, 164(5), 773-780. Abstract.  Author URL.  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.
GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group, Wellcome Trust Case Control Consortium 2, Zhou K, Bellenguez C, Spencer CCA, Bennett AJ, Coleman RL, Tavendale R, Hawley SA, Donnelly LA, et al (2011). Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet, 43(2), 117-120. Abstract.  Author URL.
Shields BM, Knight BA, Hill A, Hattersley AT, Vaidya B (2011). Fetal thyroid hormone level at birth is associated with fetal growth. J Clin Endocrinol Metab, 96(6), E934-E938. Abstract.  Author URL.
Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract.  Author URL.
Freathy RM, Kazeem GR, Morris RW, Johnson PCD, Paternoster L, Ebrahim S, Hattersley AT, Hill A, Hingorani AD, Holst C, et al (2011). Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index. Int J Epidemiol, 40(6), 1617-1628. Abstract.  Author URL.
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.
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.
McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, Williams A, Hattersley AT, Ellard S (2011). Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med, 28(9), 1028-1033. Abstract.  Author URL.
Ioannou YS, Ellard S, Hattersley A, Skordis N (2011). KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. Pediatr Diabetes, 12(2), 133-137. Abstract.  Author URL.
De Silva NMG, Freathy RM, Palmer TM, Donnelly LA, Luan J, Gaunt T, Langenberg C, Weedon MN, Shields B, Knight BA, et al (2011). Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance. Diabetes, 60(3), 1008-1018. Abstract.  Author URL.
Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM (2011). Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the K<inf>ATP</inf>channel can result in either hyperinsulinism or neonatal diabetes. Diabetes, 60(6), 1813-1822. Abstract.
Dimitri P, Warner JT, Minton JAL, Patch AM, Ellard S, Hattersley AT, Barr S, Hawkes D, Wales JK, Gregory JW, et al (2011). Novel GLIS3 mutations demonstrate an extended multisystem phenotype. Eur J Endocrinol, 164(3), 437-443. Abstract.  Author URL.
Rubio-Cabezas O, Jensen JN, Hodgson MI, Codner E, Ellard S, Serup P, Hattersley AT (2011). Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated with Biallelic Mutations in NEUROG3. Diabetes, 60(4), 1349-1353. Abstract.  Author URL.
Hameed S, Ellard S, Woodhead HJ, Neville KA, Walker JL, Craig ME, Armstrong T, Yu L, Eisenbarth GS, Hattersley AT, et al (2011). Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatric Diabetes, 12(3 PART 1), 142-149. Abstract.
Hameed S, Ellard S, Woodhead HJ, Neville KA, Walker JL, Craig ME, Armstrong T, Yu L, Eisenbarth GS, Hattersley AT, et al (2011). Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes, 12(3 Pt 1), 142-149. Abstract.  Author URL.
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.
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.
Fawcett KA, Wheeler E, Morris AP, Ricketts SL, Hallmans G, Rolandsson O, Daly A, Wasson J, Permutt A, Hattersley AT, et al (2010). Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes, 59(3), 741-746. Abstract.
Shepherd M, Miles S, Jones J, Morel K, Ellard S, Hattersley A (2010). Differential diagnosis: Identifying people with monogenic diabetes. Journal of Diabetes Nursing, 14(9), 342-347. Abstract.
Grulich-Henn J, Wagner V, Thon A, Schober E, Marg W, Kapellen TM, Haberland H, Raile K, Ellard S, Flanagan SE, et al (2010). Entities and frequency of neonatal diabetes: Data from the diabetes documentation and quality management system (DPV). Diabetic Medicine, 27(6), 709-712. Abstract.
Philipson LH, Murphy R, Ellard S, Hattersley AT, Støy J, Greeley SA, Bell GI, Polonsky KS (2010). Genetic Testing in Diabetes Mellitus: a Clinical Guide to Monogenic Diabetes. , 17-25. Abstract.
Reiling E, Jafar-Mohammadi B, Van 'T Riet E, Weedon MN, Van Vliet-Ostaptchouk JV, Hansen T, Saxena R, Van Haeften TW, Arp PA, Das S, et al (2010). Genetic association analysis of LARS2 with type 2 diabetes. Diabetologia, 53(1), 103-110. Abstract.
Perry JRB, Weedon MN, Langenberg C, Jackson AU, Lyssenko V, Sparsø T, Thorleifsson G, Grallert H, Ferrucci L, Maggio M, et al (2010). Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes. Hum Mol Genet, 19(3), 535-544. Abstract.  Author URL.
Shields BM, Freathy RM, Hattersley AT (2010). Genetic influences on the association between fetal growth and susceptibility to type 2 diabetes. JOURNAL OF DEVELOPMENTAL ORIGINS OF HEALTH AND DISEASE, 1(2), 96-105. Author URL.
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.
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.
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.
Freathy RM, Ring SM, Shields B, Galobardes B, Knight B, Weedon MN, Smith GD, Frayling TM, Hattersley AT (2009). A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy. Hum Mol Genet, 18(15), 2922-2927. Abstract.  Author URL.
Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT (2009). A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med, 26(4), 437-441. Abstract.  Author URL.
Timpson NJ, Lindgren CM, Weedon MN, Randall J, Ouwehand WH, Strachan DP, Rayner NW, Walker M, Hitman GA, Doney ASF, et al (2009). Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Diabetes, 58(2), 505-510. Abstract.  Author URL.
Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CAJ, Petz O, Mannikko R, Kapoor RR, Hussain K, et al (2009). Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med(1), 166-177. 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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. Abstract.  Author URL.
Chandak GR, Janipalli CS, Bhaskar S, Kulkarni SR, Mohankrishna P, Hattersley AT, Frayling TM, Yajnik CS (2007). Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population. Diabetologia, 50(1), 63-67. Abstract.  Author URL.
Pascoe L, Tura A, Patel SK, Ibrahim IM, Ferrannini E, Zeggini E, Weedon MN, Mari A, Hattersley AT, McCarthy MI, et al (2007). Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function. Diabetes, 56(12), 3101-3104. Abstract.  Author URL.
Owen KR, Groves CJ, Hanson RL, Knowler WC, Shuldiner AR, Elbein SC, Mitchell BD, Froguel P, Ng MCY, Chan JC, et al (2007). Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects. Diabetes, 56(3), 879-883. Abstract.  Author URL.
Locke JM, Harries LW, Sloman MJ, Sellers EA, Hattersley AT, Ellard S (2007). Diabetes susceptibility in the Canadian Oji-Cree population may be moderated by abnormal mRNA processing of HNFIA G319S transcripts. DIABETIC MEDICINE, 24, 36-36. Author URL.
Winckler W, Weedon MN, Graham RR, McCarroll SA, Purcell S, Almgren P, Tuomi T, Gaudet D, Boström KB, Walker M, et al (2007). Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes, 56(3), 685-693. Abstract.  Author URL.
Gueorguiev M, Wiltshire S, Garcia EA, Mein C, Lecoeur C, Kristen B, Allotey R, Hattersley AT, Walker M, O'rahilly S, et al (2007). Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes. J Clin Endocrinol Metab, 92(6), 2201-2204. Abstract.  Author URL.
Lawlor DA, Timpson NJ, Harbord R, Leary S, Ness A, McCarthy M, Fraying TM, Hattersley AT, Davey GS (2007). Exploring the developmental overnutrition hypothesis using parental-offspring associations and the FTO gene as an instrumental variable for maternal adiposity. The Avon Longitudinal Study of Parents and Children (ALSPAC). EARLY HUMAN DEVELOPMENT, 83, S48-S49. Author URL.
Gill-Carey O, Hattersley AT (2007). Genetics and type 2 diabetes in youth. Pediatr Diabetes, 8 Suppl 9, 42-47. Abstract.  Author URL.
Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, et al (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. NATURE, 447(7145), 661-678. Author URL.
Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K (2007). ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children (vol 7, pg 352, 2006). PEDIATRIC DIABETES, 8(1), 49-49. Author URL.
de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch A-M, Flanagan SE, Ellard S, Hattersley AT, Sansom MSP, Ashcroft FM, et al (2007). Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proc Natl Acad Sci U S A, 104(48), 18988-18992. Abstract.  Author URL.
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, et al (2007). Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A, 104(38), 15040-15044. Abstract.  Author URL.
Nejentsev S, Howson JMM, Walker NM, Szeszko J, Field SF, Stevens HE, Reynolds P, Hardy M, King E, Masters J, et al (2007). Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature, 450(7171), 887-892. Abstract.
Singh R, Edghill E, Bingham C, Ellard S, Hattersley AT, Harries LW (2007). Low prevalence of mitochondrial DNA 3243A>G point mutation in Caucasians with unexplained renal disease. Diabet Med, 24(7), 804-806. Author URL.
Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT (2007). Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene. PLoS Med, 4(4). Abstract.  Author URL.
Shields BM, Knight B, Hopper H, Hill A, Powell RJ, Hattersley AT, Clark PM (2007). Measurement of cord insulin and insulin-related peptides suggests that girls are more insulin resistant than boys at birth. Diabetes Care, 30(10), 2661-2666. Abstract.  Author URL.
Chinnery PF, Mowbray C, Patel SK, Elson JL, Sampson M, Hitman GA, McCarthy MI, Hattersley AT, Walker M (2007). Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls. J Med Genet, 44(6). Abstract.  Author URL.
Lango H, Ellard S, Colclough K, Frayling TM, Hattersley AT, Weedon MN (2007). Modifying effect of common Type 2 diabetes associated variants on MODY age of onset. DIABETIC MEDICINE, 24, 11-11. Author URL.
Shimomura K, Girard CAJ, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, et al (2007). Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects (vol 55, pg 1705, 2006). DIABETES, 56(3), 897-897. Author URL.
Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2007). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56(7), 1930-1937. Abstract.  Author URL.
Minton JAL, van de Bunt M, Boustred C, Hussain K, Hattersley AT, Ellard S, Gloyn AL (2007). Mutations in HHEX are not a common cause of monogenic forms of beta cell dysfunction. Diabetologia, 50(9), 2019-2022. Author URL.
Ellard S, Edghill EL, Gloyn AL, Harries LW (2007). Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. Journal of Clinical Endocrinology & Metabolism, 92(5), 1773-1777.
Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, et al (2007). Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia, 50(11), 2313-2317. Abstract.  Author URL.
Ellard S, Edghill EL, Flanagan SE, Harries LW (2007). Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SURI mutations with opposite functional effects. The American Journal of Human Genetics, 81(2), 375-382.
Pearson ER, Donnelly L, Doney ASF, Hattersley AT, McCarthy MI, Morris AD, Palmer CNA (2007). Pharmacogenetics in Type 2 diabetes: variation in TCF7L2 influences response to sulphonylureas. DIABETIC MEDICINE, 24, 5-5. Author URL.
Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, et al (2007). Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab, 92(4), 1276-1282. Abstract.  Author URL.
Hattersley AT (2007). Prime suspect: the TCF7L2 gene and type 2 diabetes risk. J Clin Invest, 117(8), 2077-2079. Abstract.  Author URL.
Singh R, Hattersley AT, Harries LW (2007). Reduced peripheral blood mitochondrial DNA content is not a risk factor for Type 2 diabetes. Diabet Med, 24(7), 784-787. Abstract.  Author URL.
Zeggini E, Weedon MN, Lindgren CM, Frayling TM, Elliott KS, Lango H, Timpson NJ, Perry JRB, Rayner NW, Freathy RM, et al (2007). Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science, 316(5829), 1336-1341. Abstract.  Author URL.
Codner E, Flanagan SE, Ugarte F, García H, Vidal T, Ellard S, Hattersley AT (2007). Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days. Diabetes Care, 30(5), e28-e29. Author URL.
Kimber CH, Doney ASF, Pearson ER, McCarthy MI, Hattersley AT, Leese GP, Morris AD, Palmer CNA (2007). TCF7L2 in the Go-DARTS study: evidence for a gene dose effect on both diabetes susceptibility and control of glucose levels. Diabetologia, 50(6), 1186-1191. Abstract.  Author URL.
Knight B, Shields BM, Hill A, Powell RJ, Wright D, Hattersley AT (2007). The impact of maternal glycemia and obesity on early postnatal growth in a nondiabetic Caucasian population. Diabetes Care, 30(4), 777-783. Abstract.  Author URL.
Singh R, Pearson ER, Clark PM, Hattersley AT (2007). The long-term impact on offspring of exposure to hyperglycaemia in utero due to maternal glucokinase gene mutations. Diabetologia, 50(3), 620-624. Abstract.  Author URL.
De Silva NMG, Steele A, Shields B, Knight B, Parnell K, Weedon MN, Hattersley AT, Frayling TM (2007). The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies. Diabet Med, 24(10), 1067-1072. Abstract.  Author URL.
Freathy RM, Weedon MN, Bennett A, Hypponen E, Relton CL, Knight B, Shields B, Parnell KS, Groves CJ, Ring SM, et al (2007). Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals. Am J Hum Genet, 80(6), 1150-1161. Abstract.  Author URL.
Freathy RM, Weedon MN, McCarthy MI, Walker M, Hitman GA, Ring SM, Ben-Shlomo Y, Smith GD, Hattersley AT, Frayling TM, et al (2007). Type 2 diabetes transcription factor 7-like 2 (TCF7L2) risk alleles reduce beta-cell function and increase birth weight. DIABETIC MEDICINE, 24, 10-10. Author URL.
Pearson ER, Donnelly LA, Kimber C, Whitley A, Doney ASF, McCarthy MI, Hattersley AT, Morris AD, Palmer CNA (2007). Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study. Diabetes, 56(8), 2178-2182. Abstract.  Author URL.
Tarasov AI, Welters HJ, Senkel S, Ryffel GU, Hattersley AT, Morgan NG, Ashcroft FM (2006). A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells. Diabetes, 55(11), 3075-3082. Abstract.  Author URL.
Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, et al (2006). A common haplotype of glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet, 79(6), 991-1001.
Weedon MN, Clark VJ, Qian Y, Ben-Shlomo Y, Timpson N, Ebrahim S, Lawlor DA, Pembrey ME, Ring S, Wilkin TJ, et al (2006). A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses. Am J Hum Genet, 79(6), 991-1001.
Ellard S, Arnold AL, Bruining J, Proks P (2006). A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Human Molecular Genetics, 15(11), 1793-1800.
Freathy RM, Mitchell SMS, Knight B, Shields B, Weedon MN, Hattersley AT, Frayling TM (2006). A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population. J Negat Results Biomed, 5 Abstract.  Author URL.  Full text.
Slingerland AS, Hattersley AT (2006). Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes. J Clin Endocrinol Metab, 91(7), 2782-2788. Abstract.  Author URL.
Ward KJ, Ellard S, Yajnik CS, Frayling TM, Hattersley AT, Venigalla PNS, Chandak GR (2006). Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene. Lipids Health Dis, 5 Abstract.  Author URL.
Porter JR, Rangasami JJ, Ellard S, Gloyn AL, Shields BM, Edwards J, Anderson JM, Shaw NJ, Hattersley AT, Frayling TM, et al (2006). Asian MODY: are we missing an important diagnosis?. Diabet Med, 23(11), 1257-1260. Abstract.  Author URL.
Shields BM, Knight BA, Powell RJ, Hattersley AT, Wright DE (2006). Assessing newborn body composition using principal components analysis: differences in the determinants of fat and skeletal size. BMC Pediatr, 6 Abstract.  Author URL.  Full text.
Gloyn AL, Mackay DJG, Weedon MN, McCarthy MI, Walker M, Hitman G, Knight BA, Owen KR, Hattersley AT, Frayling TM, et al (2006). Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach. Diabetes, 55(8), 2272-2276. Abstract.  Author URL.
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, et al (2006). Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk (vol 55, pg 2640, 2006). DIABETES, 55(12), 3635-3635. Author URL.
Groves CJ, Zeggini E, Minton J, Frayling TM, Weedon MN, Rayner NW, Hitman GA, Walker M, Wiltshire S, Hattersley AT, et al (2006). Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes, 55(9), 2640-2644. Abstract.  Author URL.
Tsuchiya T, Schwarz PEH, Bosque-Plata LD, Geoffrey Hayes M, Dina C, Froguel P, Wayne Towers G, Fischer S, Temelkova-Kurktschiev T, Rietzsch H, et al (2006). Association of the calpain-10 gene with type 2 diabetes in Europeans: results of pooled and meta-analyses. Mol Genet Metab, 89(1-2), 174-184. Abstract.  Author URL.
Hattersley AT (2006). Beyond the beta cell in diabetes. Nat Genet, 38(1), 12-13. Author URL.
Weedon MN, Hattersley AT, Frayling TM (2006). Chapter 1 Transcription factor genes in type 2 diabetes. Advances in Molecular and Cellular Endocrinology, 5(C), 1-14. Abstract.
Weedon MN, McCarthy MI, Hitman G, Walker M, Groves CJ, Zeggini E, Rayner NW, Shields B, Owen KR, Hattersley AT, et al (2006). Combining information from common type 2 diabetes risk polymorphisms improves disease prediction. PLoS Med, 3(10). Abstract.  Author URL.
Patel S, Minton JAL, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG, et al (2006). Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population. Diabetologia, 49(6), 1209-1213. Abstract.  Author URL.
Welters HJ, Senkel S, Klein-Hitpass L, Erdmann S, Thomas H, Harries LW, Pearson ER, Bingham C, Hattersley AT, Ryffel GU, et al (2006). Conditional expression of hepatocyte nuclear factor-1beta, the maturity-onset diabetes of the young-5 gene product, influences the viability and functional competence of pancreatic beta-cells. J Endocrinol, 190(1), 171-181. Abstract.  Author URL.
Brackenridge A, Pearson ER, Shojaee-Moradie F, Hattersley AT, Russell-Jones D, Umpleby AM (2006). Contrasting insulin sensitivity of endogenous glucose production rate in subjects with hepatocyte nuclear factor-1beta and -1alpha mutations. Diabetes, 55(2), 405-411. Abstract.  Author URL.
Shields BM, Knight B, Shakespeare L, Babrah J, Powell RJ, Clark PM, Hattersley AT (2006). Determinants of insulin concentrations in healthy 1-week-old babies in the community: applications of a bloodspot assay. Early Hum Dev, 82(2), 143-148. Abstract.  Author URL.
Wiltshire S, Bell JT, Groves CJ, Dina C, Hattersley AT, Frayling TM, Walker M, Hitman GA, Vaxillaire M, Farrall M, et al (2006). Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans. Ann Hum Genet, 70(Pt 6), 726-737. Abstract.  Author URL.
Agius E, Attard G, Shakespeare L, Clark P, Vidya M-A, Hattersley AT, Fava S (2006). Familial factors in diabetic nephropathy: an offspring study. Diabet Med, 23(3), 331-334. Abstract.  Author URL.
Freathy RM, Weedon MN, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population. JOP, 7(3), 295-302. Abstract.  Author URL.
Castleden HAJ, Shields B, Bingley PJ, Williams AJK, Sampson M, Walker M, Gibson JM, McCarthy MI, Hitman GA, Levy JC, et al (2006). GAD antibodies in probands and their relatives in a cohort clinically selected for Type 2 diabetes. Diabet Med, 23(8), 834-838. Abstract.  Author URL.
Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM (2006). HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes, 55(6), 1895-1898. Abstract.  Author URL.
Pearson E, Steele A, Stals K, Ellard S, Barrett T, Hattersley A, Shield J (2006). HNF-4a mutations cause fetal hyperinsulinaemia, macrosomia and transient neonatal hypoglycaemia. HORMONE RESEARCH, 65, 18-18. Author URL.
Edghill EL, Bingham C, Slingerland AS, Minton JAL, Noordam C, Ellard S, Hattersley AT (2006). Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet Med, 23(12), 1301-1306. Abstract.  Author URL.
Craig ME, Hattersley A, Donaghue K, International Society for Pediatric and Adolescent Diabetes (2006). ISPAD Clinical Practice Consensus Guidelines 2006-2007. Definition, epidemiology and classification. Pediatr Diabetes, 7(6), 343-351. Author URL.
Slingerland AS, Nuboer R, Hadders-Algra M, Hattersley AT, Bruining GJ (2006). Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia, 49(11), 2559-2563. Abstract.  Author URL.
Harries LW, Ellard S, Stride A, Morgan NG, Hattersley AT (2006). Isomers of the TCF1 gene encoding hepatocyte nuclear factor-1 alpha show differential expression in the pancreas and define the relationship between mutation position and clinical phenotype in monogenic diabetes. Hum Mol Genet, 15(14), 2216-2224. Abstract.  Author URL.
Gloyn AL, Diatloff-Zito C, Edghill EL, Bellanné-Chantelot C, Nivot S, Coutant R, Ellard S, Hattersley AT, Robert JJ (2006). KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur J Hum Genet, 14(7), 824-830. Abstract.  Author URL.
Slingerland AS, Nuboer R, Hadders Algra M, Hattersley AT, Bruining GJ (2006). Kir6.2, diabetes and neurology: new insights, new diagnosis and new treatment. HORMONE RESEARCH, 65, 15-15. Author URL.
Hattersley A (2006). Low birth weight and Type 2 diabetes: fetal programming or shared genes. HORMONE RESEARCH, 65, 2-2. Author URL.
Stenhouse E, Wright DE, Hattersley AT, Millward BA (2006). Maternal glucose levels influence birthweight and 'catch-up' and 'catch-down' growth in a large contemporary cohort. Diabet Med, 23(11), 1207-1212. Abstract.  Author URL.
Hattersley AT, Pearson ER (2006). Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology, 147(6), 2657-2663. Abstract.  Author URL.
Shimomura K, Girard CAJ, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, et al (2006). Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes, 55(6), 1705-1712. Abstract.  Author URL.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT (2006). Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia, 49(6), 1190-1197. Abstract.  Author URL.
Edghill EL, Bingham C, Ellard S, Hattersley AT (2006). Mutations in hepatocyte nuclear factor-1beta and their related phenotypes. J Med Genet, 43(1), 84-90. Abstract.  Author URL.
Weedon MN, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians. Diabetes, 55(11), 3175-3179. Abstract.  Author URL.
Knight B, Shields BM, Hill A, Powell RJ, Round A, Hamilton W, Hattersley AT (2006). Offspring birthweight is not associated with paternal insulin resistance. Diabetologia, 49(11), 2675-2678. Abstract.  Author URL.
Shields BM, Knight B, Turner M, Wilkins-Wall B, Shakespeare L, Powell RJ, Hannemann M, Clark PM, Yajnik CS, Hattersley AT, et al (2006). Paternal insulin resistance and its association with umbilical cord insulin concentrations. Diabetologia, 49(11), 2668-2674. Abstract.  Author URL.
Spyer G, Ellard S, Turnpenny PD, Hattersley AT, Vaidya B (2006). Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management. Thyroid, 16(6), 605-608. Abstract.  Author URL.
Singh R, Ellard S, Hattersley A, Harries LW (2006). Rapid and sensitive real-time polymerase chain reaction method for detection and quantification of 3243A>G mitochondrial point mutation. J Mol Diagn, 8(2), 225-230. Abstract.  Author URL.
Singh R, Pearson E, Avery PJ, McCarthy MI, Levy JC, Hitman GA, Sampson M, Walker M, Hattersley AT (2006). Reduced beta cell function in offspring of mothers with young-onset type 2 diabetes. Diabetologia, 49(8), 1876-1880. Abstract.  Author URL.
Tomlinson J, Pinkney J, Hattersley A (2006). Screening for diabetes and hyperglycaemia: a retrospective study. Diabetes Primary Care, 8(2), 106-113. Abstract.
Groves CJ, Zeggini E, Walker M, Hitman GA, Levy JC, O'Rahilly S, Hattersley AT, McCarthy MI, Wiltshire S (2006). Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate. Diabetes, 55(6), 1884-1889. Abstract.  Author URL.
Wagner V, Kremke B, Pearson E, Hattersley A, Hiort O (2006). Successful therapy with sulfonylurea in a 6 year old boy with permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2 of the KCNJ11 gene - patient characteristics and response to one year treatment. HORMONE RESEARCH, 65, 70-70. Author URL.
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, et al (2006). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med, 355(5), 467-477. Abstract.  Author URL.
Knight B, Shields BM, Hattersley AT (2006). The Exeter Family Study of Childhood Health (EFSOCH): study protocol and methodology. Paediatr Perinat Epidemiol, 20(2), 172-179. Abstract.  Author URL.
Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Hale TC, Hattersley AT, Hitman GA, et al (2006). The International Type 2 Diabetes 1q Consortium: Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. (vol 55, pg 2541, 2006). DIABETES, 55(11), 3197-3197. Author URL.
Donnelly LA, Doney ASF, Hattersley AT, Morris AD, Pearson ER (2006). The effect of obesity on glycaemic response to metformin or sulphonylureas in Type 2 diabetes. Diabet Med, 23(2), 128-133. Abstract.  Author URL.
Freathy RM, Weedon MN, Melzer D, Shields B, Hitman GA, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2006). The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. BMC Med Genet, 7 Abstract.  Author URL.  Full text.
Freathy RM, Lonnen KF, Steele AM, Minton JAL, Frayling TM, Hattersley AT, Macleod KM (2006). The impact of the angiotensin-converting enzyme insertion/deletion polymorphism on severe hypoglycemia in Type 2 diabetes. Rev Diabet Stud, 3(2), 76-81. Abstract.  Author URL.
Desai M, Zeggini E, Horton VA, Owen KR, Hattersley AT, Levy JC, Hitman GA, Walker M, Holman RR, McCarthy MI, et al (2006). The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults. Diabetes, 55(6), 1890-1894. Abstract.  Author URL.
Chandak GR, Ward KJ, Yajnik CS, Pandit AN, Bavdekar A, Joglekar CV, Fall CHD, Mohankrishna P, Wilkin TJ, Metcalf BS, et al (2006). Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans. BMC Med Genet, 7 Abstract.  Author URL.
Zeggini E, Damcott CM, Hanson RL, Karim MA, Rayner NW, Groves CJ, Baier LJ, Hale TC, Hattersley AT, Hitman GA, et al (2006). Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q. Diabetes, 55(9), 2541-2548. Abstract.  Author URL.
Proks P, Girard C, Haider S, Gloyn AL, Hattersley AT, Sansom MSP, Ashcroft FM (2005). A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome. EMBO Rep, 6(5), 470-475. Abstract.  Author URL.
Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Hattersley AT, Frayling TM (2005). A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population. Diabetes, 54(8), 2487-2491. Abstract.  Author URL.
Hattersley AT, Ashcroft FM (2005). Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes, 54(9), 2503-2513. Abstract.  Author URL.
Zeggini E, Rayner W, Morris AP, Hattersley AT, Walker M, Hitman GA, Deloukas P, Cardon LR, McCarthy MI (2005). An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets. Nat Genet, 37(12), 1320-1322. Abstract.  Author URL.
Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, Hattersley AT (2005). Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care, 28(7), 1751-1756. Abstract.  Author URL.
Timpson NJ, Lawlor DA, Harbord RM, Gaunt TR, Day INM, Palmer LJ, Hattersley AT, Ebrahim S, Lowe GDO, Rumley A, et al (2005). C-reactive protein and its role in metabolic syndrome: mendelian randomisation study. Lancet, 366(9501), 1954-1959. Abstract.  Author URL.
Ellard S, Hattersley AT, Brewer CM, Vaidya B (2005). Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin Endocrinol (Oxf), 62(2), 169-175. Abstract.  Author URL.
Knight B, Shields BM, Turner M, Powell RJ, Yajnik CS, Hattersley AT (2005). Evidence of genetic regulation of fetal longitudinal growth. Early Hum Dev, 81(10), 823-831. Abstract.  Author URL.
Zeggini E, Parkinson JRC, Halford S, Owen KR, Walker M, Hitman GA, Levy JC, Sampson MJ, Frayling TM, Hattersley AT, et al (2005). Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples. Diabet Med, 22(12), 1696-1700. Abstract.  Author URL.
Hattersley AT, McCarthy MI (2005). Genetic Epidemiology 5 - What makes a good genetic association study?. LANCET, 366(9493), 1315-1323. Author URL.
Weedon MN, Frayling TM, Shields B, Knight B, Turner T, Voss LD, Metcalf BS, Wilkin TJ, McCarthy A, Ben-Shlomo Y, et al (2005). Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene. Diabetes, 54(2), 576-581.
Schnyder S, Mullis PE, Ellard S, Hattersley AT, Flück CE (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss Med Wkly, 135(23-24), 352-356. Abstract.  Author URL.
Maeda S, Tsukada S, Kanazawa A, Sekine A, Tsunoda T, Koya D, Maegawa H, Kashiwagi A, Babazono T, Matsuda M, et al (2005). Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus. J Hum Genet, 50(6), 283-292. Abstract.  Author URL.
Codner E, Flanagan SE, Ellard S, Garcia H, Hattersley AT (2005). High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care, 28(3), 758-759.
Codner E, Flanagan S, Ellard S, García H, Hattersley AT (2005). High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care, 28(3), 758-759. Author URL.
Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HAJ, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, et al (2005). Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. J Biol Chem, 280(14), 14105-14113. Abstract.  Author URL.
Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, et al (2005). KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat, 25(1), 22-27. Abstract.  Author URL.
Zeggini E, Groves CJ, Parkinson JRC, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, O'Rahilly S, et al (2005). Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes. Diabetologia, 48(10), 2013-2017. Abstract.  Author URL.
Dobson L, Stride A, Bingham C, Elworthy S, Sheldon CD, Hattersley AT (2005). Microalbuminuria as a screening tool in cystic fibrosis-related diabetes. Pediatr Pulmonol, 39(2), 103-107. Abstract.  Author URL.
Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HAJ, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, et al (2005). Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia, 48(5), 878-885. Abstract.  Author URL.
Hattersley AT (2005). Molecular genetics goes to the diabetes clinic. Clin Med (Lond), 5(5), 476-481. Abstract.  Author URL.
Slingerland AS, Hattersley AT (2005). Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: new insights and new treatment. Ann Med, 37(3), 186-195. Abstract.  Author URL.
John H, Flanagan SE, Corrall R, Hattersley AT, Ellard S, Sheppherd M (2005). Neonatal diabetes is more than just a paediatric problem: 57 years of diabetes from a Kir6.2 mutation. Pract Diab Int, 22
Šumník Z, Průhová S, Koloušková S, Cinek O, Lebl J, Vavřinec J, Hattersley AT (2005). Neonatal diabetes mellitus caused by activation mutation in the gene encoding the Kir6.2 subunit of potassium channel: is insulindependency inevitably life-long?. Cesko-Slovenska Pediatrie, 60(6), 332-337. Abstract.
Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL (2005). Permanent neonatal diabetes in an Asian infant. J Pediatr, 146(1), 131-133. Abstract.  Author URL.
Sagen JV, Pearson ER, Johansen A, Spyer G, Søvik O, Pedersen O, Njølstad PR, Hattersley AT, Hansen T (2005). Preserved insulin response to tolbutamide in hepatocyte nuclear factor-1alpha mutation carriers. Diabet Med, 22(4), 406-409. Abstract.  Author URL.
AHattersley, Ellard S, Gloyn AL, Reimann F (2005). Relapsing diabetes can result from moderately activating mutations in KCNJ11. Human Molecular Genetics, 14(7), 925-934.
Gloyn AL, Reimann F, Girard C, Edghill EL, Proks P, Pearson ER, Temple IK, Mackay DJG, Shield JPH, Freedenberg D, et al (2005). Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet, 14(7), 925-934. Abstract.  Author URL.
Fava S, Hattersley AT (2005). Reported parental age of death in type 2 diabetic patients with and without established diabetic nephropathy. Eur J Intern Med, 16(7), 482-484. Abstract.  Author URL.
Chinnery PF, Elliott HR, Patel S, Lambert C, Keers SM, Durham SE, McCarthy MI, Hitman GA, Hattersley AT, Walker M, et al (2005). Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes. Lancet, 366(9497), 1650-1651. Abstract.  Author URL.
Klupa T, Edghill EL, Nazim J, Sieradzki J, Ellard S, Hattersley AT, Malecki MT (2005). The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation. Diabetologia, 48(5), 1029-1031. Author URL.
Harries LW, Bingham C, Bellanne-Chantelot C, Hattersley AT, Ellard S (2005). The position of premature termination codons in the hepatocyte nuclear factor -1 beta gene determines susceptibility to nonsense-mediated decay. Hum Genet, 118(2), 214-224. Abstract.  Author URL.
Hattersley AT, McCarthy MI (2005). What makes a good genetic association study?. Lancet, 366(9493), 1315-1323. Abstract.  Author URL.
Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, Hattersley AT (2005). β-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1α mutation carriers. Diabetes Care, 28(7), 1751-1756. Abstract.
Shepherd M, Hattersley AT (2004). 'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clinical Medicine, Journal of the Royal College of Physicians of London, 4(2), 144-147. Abstract.
Shepherd M, Hattersley AT (2004). 'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clin Med (Lond), 4(2), 144-147. Abstract.  Author URL.
Greaves CJ, Stead JW, Hattersley AT, Ewings P, Brown P, Evans PH (2004). A simple pragmatic system for detecting new cases of type 2 diabetes and impaired fasting glycaemia in primary care. Fam Pract, 21(1), 57-62. Abstract.  Author URL.
Harries LW, Ellard S, Jones RWA, Hattersley AT, Bingham C (2004). Abnormal splicing of hepatocyte nuclear factor-1 beta in the renal cysts and diabetes syndrome. Diabetologia, 47(5), 937-942. Abstract.  Author URL.
Edghill EL, Gloyn AL, Gillespie KM, Lambert AP, Raymond NT, Swift PG, Ellard S, Gale EAM, Hattersley AT (2004). Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years. Diabetes, 53(11), 2998-3001. Abstract.  Author URL.
Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JMCL, Molnes J, et al (2004). Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med, 350(18), 1838-1849. Abstract.  Author URL.
Liew CF, Groves CJ, Wiltshire S, Zeggini E, Frayling TM, Owen KR, Walker M, Hitman GA, Levy JC, O'rahilly S, et al (2004). Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism. Diabetologia, 47(12), 2168-2175. Abstract.  Author URL.
Zeggini E, Parkinson J, Halford S, Owen KR, Frayling TM, Walker M, Hitman GA, Levy JC, Sampson MJ, Feskens EJM, et al (2004). Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset. Diabetes, 53(12), 3319-3322. Abstract.  Author URL.
Weedon MN, Owen KR, Shields B, Hitman G, Walker M, McCarthy MI, Love-Gregory LD, Permutt MA, Hattersley AT, Frayling TM, et al (2004). Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population. Diabetes, 53(11), 3002-3006. Abstract.  Author URL.
Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT (2004). Contrasting diabetes phenotypes associated with hepatocyte nuclear factor-1alpha and -1beta mutations. Diabetes Care, 27(5), 1102-1107. Abstract.  Author URL.
Dobson L, Sheldon CD, Hattersley AT (2004). Conventional measures underestimate glycaemia in cystic fibrosis patients. Diabet Med, 21(7), 691-696. Abstract.  Author URL.
Wiltshire S, Frayling TM, Groves CJ, Levy JC, Hitman GA, Sampson M, Walker M, Menzel S, Hattersley AT, Cardon LR, et al (2004). Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24. Diabetes, 53(3), 855-860. Abstract.  Author URL.
Ehtisham S, Hattersley AT, Dunger DB, Barrett TG, British Society for Paediatric Endocrinology and Diabetes Clinical Trials Group (2004). First UK survey of paediatric type 2 diabetes and MODY. Arch Dis Child, 89(6), 526-529. Abstract.  Author URL.
Mills GW, Avery PJ, McCarthy MI, Hattersley AT, Levy JC, Hitman GA, Sampson M, Walker M (2004). Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to type 2 diabetes. Diabetologia, 47(4), 732-738. Abstract.  Author URL.
Vaxillaire M, Populaire C, Busiah K, Cavé H, Gloyn AL, Hattersley AT, Czernichow P, Froguel P, Polak M (2004). Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes, 53(10), 2719-2722. Abstract.  Author URL.
Mitchell SMS, Hattersley AT, Knight B, Turner T, Metcalf BS, Voss LD, Davies D, McCarthy A, Wilkin TJ, Smith GD, et al (2004). Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations. J Clin Endocrinol Metab, 89(1), 310-317. Abstract.  Author URL.
Owen KR, Donohoe M, Ellard S, Clarke TJ, Nicholls AJ, Hattersley AT, Bingham C (2004). Mesangiocapillary glomerulonephritis type 2 associated with familial partial lipodystrophy (Dunnigan-Kobberling syndrome). Nephron Clin Pract, 96(2), c35-c38. Abstract.  Author URL.
Harries LW, Hattersley AT, Ellard S (2004). Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay. Diabetes, 53(2), 500-504. Abstract.  Author URL.
Proks P, Antcliff JF, Lippiat J, Gloyn AL, Hattersley AT, Ashcroft FM (2004). Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc Natl Acad Sci U S A, 101(50), 17539-17544. Abstract.  Author URL.