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Professor Sian Ellard

Professor Sian Ellard

Professor of Genomic Medicine

01392 408259

RILD Building 

Sian is Professor of Genomic Medicine at the University of Exeter Medical School and also a Consultant Clinical Scientist at the Royal Devon and Exeter NHS Foundation Trust where she heads the Molecular Genetics Department. She came to Exeter in 1995 to set up a Molecular Genetics Laboratory providing a core facility for integrated research and diagnostic genetic testing. The laboratory receives samples from >75 countries throughout the world and is acclaimed for both its research into monogenic disorders and the translation of its research discoveries into diagnostic service.

Research interests include monogenic diabetes (with Professor Andrew Hattersley), congenital hyperinsulinism and applying next generation sequencing technology for disease gene discovery and improved diagnostic tests. 

Qualifications

FRCPath

PhD Genetic Toxicology (University of Wales, Swansea)

BSc Biological Sciences (University of Portsmouth)

Research

Key publications | Publications by category | Publications by year

Key publications


Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S (2008). An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes, 57(1), 259-263. Abstract.  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.
Shield JPH, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S (2008). Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes, 57(1), 255-258. Abstract.  Author URL.

Publications by category


Books

Turnpenny PD, Ellard S (In Press). Emery's Elements of Medical Genetics - 13th Edition., Elsevier.
Turnpenny PD, Ellard S (2004). Emery's Elements of Medical Genetics - 12th Edition., Elsevier.

Journal articles

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.
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.
Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, et al (In Press). Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Orphanet J Rare Dis, 11(1). Abstract.  Author URL.
Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N (In Press). Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. Indian J Pediatr, 83(11). Author URL.
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.
Parrish A, Caswell R, Jones G, Watson CM, Crinnion LA, Ellard S (2017). An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth. Wellcome Open Research, 2, 49-49.
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.
Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ (2017). Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol, 12(1). Abstract.  Author URL.
Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell A-M, McGurren K, Cuesta M, et al (2017). Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Hum Mutat, 38(1), 78-85. Abstract.  Author URL.
Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, et al (2017). Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. Nat Genet, 49(1), 17-26. Abstract.  Author URL.  Full text.
Hussain S, Flanagan S, Ellard S (2016). A case report on congenital hyperinsulinism associated with ABCC8 nonsense mutation: Good response to octreotide. Journal of the ASEAN Federation of Endocrine Societies, 31(2), 178-182. Abstract.
Ünal S, Gönülal D, Uçaktürk A, Bilgin BS, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, et al (2016). A novel homozygous mutation in the KCNJ11 gene of a neonate with congenital hyperinsulinism and successful management with sirolimus. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 8(4), 478-481. Abstract.
Ramírez-Rentería C, Hernández-Ramírez LC, Portocarrero-Ortiz L, Vargas G, Melgar V, Espinosa E, Espinosa-de-Los-Monteros AL, Sosa E, González B, Zúñiga S, et al (2016). AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. Endocrine, 53(2), 402-411. Abstract.  Author URL.
Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, et al (2016). Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int, 90(1), 203-211. Abstract.  Author URL.  Full text.
Güven A, Cebeci AN, Ellard S, Flanagan SE (2016). Clinical and genetic characteristics, management and long-term follow-up of turkish patients with congenital hyperinsulinism. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 8(2), 197-204. Abstract.
Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M (2016). Clinical and genetic features of Argentinian children with diabetes-onset before 12 months of age: Successful transfer from insulin to oral sulfonylurea. Diabetes Research and Clinical Practice, 117, 104-110. Abstract.
Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE (2016). Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Hormone Research in Paediatrics, 85(6), 421-425. Abstract.
Thomas ER, Brackenridge A, Kidd J, Kariyawasam D, Carroll P, Colclough K, Ellard S (2016). Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. Journal of Diabetes Investigation, 7(3), 332-337. Abstract.
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.
Haliloglu B, Hysenaj G, Atay Z, Guran T, Abalı S, Turan S, Bereket A, Ellard S (2016). GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey. Clin Endocrinol (Oxf), 85(3), 393-399. Abstract.  Author URL.
Deeb A, Habeb A, Kaplan W, Attia S, Hadi S, Osman A, Al-Jubeh J, Flanagan S, DeFranco E, Ellard S, et al (2016). Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates. Am J Med Genet A, 170(3), 602-609. Abstract.  Author URL.
Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, et al (2016). Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun, 4(1). Abstract.  Author URL.
Satapathy AK, Jain V, Ellard S, Flanagan SE (2016). Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings. Indian Pediatrics, 53(10), 912-913. Abstract.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.  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.
Laver TW, Caswell RC, Moore KA, Poschmann J, Johnson MB, Owens MM, Ellard S, Paszkiewicz KH, Weedon MN (2016). Pitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep, 6 Abstract.  Author URL.
Besser REJ, Flanagan SE, Mackay DGJ, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT (2016). Prematurity and Genetic Testing for Neonatal Diabetes. Pediatrics, 138(3). Abstract.  Author URL.  Full text.
Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, et al (2016). Prospective functional classification of all possible missense variants in PPARG. Nat Genet, 48(12), 1570-1575. Abstract.  Author URL.
Owens M, Kivuva E, Quinn A, Brennan P, Caswell R, Lango Allen H, Vaidya B, Ellard S (2016). SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. Clin Endocrinol (Oxf), 84(5), 715-719. Abstract.  Author URL.
Antosik K, Gnys P, De Franco E, Borowiec M, Mysliwiec M, Ellard S, Mlynarski W (2016). Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology. Acta Diabetol, 53(2), 337-338. Author URL.
Rodd C, Millette M, Iacovazzo D, Stiles CE, Barry S, Evanson J, Albrecht S, Caswell R, Bunce B, Jose S, et al (2016). Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management. J Clin Endocrinol Metab, 101(5), 1927-1930. Abstract.  Author URL.
Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT (2016). South Asian individuals with diabetes who are referred for MODY testing in the UK have a lower mutation pick-up rate than white European people. Diabetologia, 59(10), 2262-2265. Author URL.  Full text.
Bacon S, Kyithar MP, Rizvi SR, Donnelly E, McCarthy A, Burke M, Colclough K, Ellard S, Byrne MM (2016). Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort. Diabet Med, 33(7), 976-984. Abstract.  Author URL.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (2016). Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia, 59(6), 1162-1166. Abstract.  Author URL.  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.
Yew TW, McCreight L, Colclough K, Ellard S, Pearson ER (2016). tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. Diabet Med, 33(9), e21-e25. Abstract.  Author URL.
Çamtosun E, Flanagan SE, Ellard S, Şıklar Z, Hussain K, Kocaay P, Berberoğlu M (2015). A deep intronic HADH splicing mutation (c.636+471G>T) in a congenital hyperinsulinemic hypoglycemia case: Long term clinical course. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 7(2), 144-147. Abstract.  Full text.
Harel S, Cohen ASA, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JBW, Van Karnebeek C, Kurata H, et al (2015). Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. Journal of Pediatric Endocrinology and Metabolism, 28(3-4), 345-351. Abstract.
Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H (2015). An exome sequencing strategy to diagnose lethal autosomal recessive disorders. European Journal of Human Genetics, 23(3), 401-404. Abstract.
Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H (2015). An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet, 23(3), 401-404. Abstract.  Author URL.
Ramzan M, Flanagan SE, Ellard S, Yadav SP (2015). Anemia in a Child with Deafness: be Vigilant for a Rare Cause!. Indian Journal of Hematology and Blood Transfusion, 31(3), 394-395.
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.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. European Journal of Human Genetics, 23(12), 1744-1748. Abstract.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12). Author URL.
Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12), 1744-1748. Abstract.  Author URL.  Full text.
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.
Abraham MB, Shetty VB, Price G, Smith N, Bock MD, Siafarikas A, Resnick S, Whan E, Ellard S, Flanagan SE, et al (2015). Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia. Journal of Pediatric Endocrinology and Metabolism, 28(11-12), 1391-1398. Abstract.
Castle B, Kivuva E, Turnpenny P, Parker M, Ellard S (2015). Exome sequencing and the impact on prenatal diagnosis. BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 122, 46-46. Author URL.
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.
Ellard S (2015). Genetics and clinical characteristics of neonatal diabetes. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 7
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America, 62(4), 1037-1053. Abstract.
De Franco E, Ellard S (2015). Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatric Clinics of North America Abstract.
Senniappan S, Sadeghizadeh A, Flanagan SE, Ellard S, Hashemipour M, Hosseinzadeh M, Salehi M, Hussain K (2015). Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC Res Notes, 8 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.
Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C (2015). HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol, 11(2), 102-112. Abstract.  Author URL.  Full text.
Dénes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, et al (2015). Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab, 100(3), E531-E541. Abstract.  Author URL.
Shi Y, Avatapalle HB, Skae MS, Padidela R, Newbould M, Rigby L, Flanagan SE, Ellard S, Rahier J, Clayton PE, et al (2015). Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. J Pediatr, 166(1), 191-194. Abstract.  Author URL.
Hernández-Ramírez LC, Gabrovska P, Dénes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, et al (2015). Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. J Clin Endocrinol Metab, 100(9), E1242-E1254. Abstract.  Author URL.
Fitzgerald TW, Gerety SS, Jones WD, Van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519(7542), 223-228. Abstract.
Fitzgerald TW, Gerety SS, Jones WD, van Kogelenberg M, King DA, McRae J, Morley KI, Parthiban V, Al-Turki S, Ambridge K, et al (2015). Large-scale discovery of novel genetic causes of developmental disorders. NATURE, 519(7542), 223-+. Author URL.
Ellard S (2015). Linical and molecular characterisation of patients with congenital hyperinsulinism. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 7
Habeb AM, Deeb A, Johnson M, Abdullah M, Abdulrasoul M, Al-Awneh H, Al-Maghamsi MSF, Al-Murshedi F, Al-Saif R, Al-Sinani S, et al (2015). Liver disease and other comorbidities in Wolcott-Rallison syndrome: Different phenotype and variable associations in a large cohort. Hormone Research in Paediatrics, 83(3), 190-197. Abstract.  Full text.
Russell MA, Flanagan SE, Ellard S, Otonkoski T, Hattersley AT, Morgan NG (2015). Molecular investigation of the K392R mutant form of STAT3 found in a patient with early-onset autoimmune diabetes. DIABETIC MEDICINE, 32, 64-64. Author URL.
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.
Chakera AJ, Lango-Allen H, Shepherd MH, Ellard S, Hattersley AT (2015). Primrose syndrome: using genetic sequencing in the diabetes clinic to find a rare monogenic cause of diabetes and learning disability. DIABETIC MEDICINE, 32, 14-14. Author URL.
Babiker O, Flanagan SE, Ellard S, Girim HA, Hussain K, Senniappan S (2015). Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. Journal of Pediatric Endocrinology and Metabolism, 28(9-10), 1073-1077. Abstract.
Chakera AJ, Steele AM, Gloyn AL, Shepherd MH, Shields B, Ellard S, Hattersley AT (2015). Recognition and Management of Individuals with Hyperglycemia Because of a Heterozygous Glucokinase Mutation. Diabetes Care, 38(7), 1383-1392. Abstract.  Author URL.  Full text.
Shah P, Arya VB, Flanagan SE, Morgan K, Ellard S, Senniappan S, Hussain K (2015). Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. Journal of Pediatric Endocrinology and Metabolism, 28(5-6), 695-699. Abstract.
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.
Çamtosun E, Şiklar Z, Kocaay P, Ceylaner S, Flanagan SE, Ellard S, Berberoʇlu M (2015). Three cases of Wolfram syndrome with different clinical aspects. Journal of Pediatric Endocrinology and Metabolism, 28(3-4), 433-438. Abstract.
Chakera AJ, Freathy RM, Ellard S, Hattersley AT, Weedon MN (2015). Using a human monogenic model to determine the function of common genetic variants that predispose to Type 2 diabetes or raise fasting glucose. DIABETIC MEDICINE, 32, 60-60. Author URL.
Gonc EN, Ozon A, Alikasifoglu A, Haliloglu M, Ellard S, Shaw-Smith C, Kandemir N (2015). Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. HORMONE RESEARCH IN PAEDIATRICS, 84(3), 206-211. Author URL.
Schoeler NE, Leu C, White J, Plagnol V, Ellard S, Matarin M, Yellen G, Thiele EA, Mackay M, McMahon JM, et al (2015). Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. Epilepsy Res, 118, 22-28. Abstract.  Author URL.
Durmaz E, Flanagan SE, Parlak M, Ellard S, Akcurin S, Bircan I (2014). A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 6(2), 119-121. Abstract.  Full text.
Arya VB, Flanagan SE, Schober E, Rami-Merhar B, Ellard S, Hussain K (2014). Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. J Clin Endocrinol Metab, 99(2), 391-394. 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.
Ramzan M, Flanagan SE, Ellard S, Yadav SP (2014). Anemia in a Child with Deafness: be Vigilant for a Rare Cause!. Indian Journal of Hematology and Blood Transfusion
Kalaivanan P, Arya VB, Shah P, Datta V, Flanagan SE, Mackay DJG, Ellard S, Senniappan S, Hussain K (2014). Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(11-12), 1065-1069. Author URL.
Arya VB, Guemes M, Nessa A, Alam S, Shah P, Gilbert C, Senniappan S, Flanagan SE, Ellard S, Hussain K, et al (2014). Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol, 171(6), 685-695. Abstract.  Author URL.
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, et al (2014). Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. Eur J Endocrinol, 170(6), 885-892. Abstract.  Author URL.
Colclough K, Saint-Martin C, Timsit J, Ellard S, Bellanné-Chantelot C (2014). Clinical utility gene card for: Maturity-onset diabetes of the young. European Journal of Human Genetics, 22(9).
Colclough K, Saint-Martin C, Timsit J, Ellard S, Bellanné-Chantelot C (2014). Clinical utility gene card for: Maturity-onset diabetes of the young. Eur J Hum Genet, 22(9). Author URL.
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.
Russell MA, Flanagan SE, Ellard S, Otonkoski T, Hattersley AT, Morgan NG (2014). Enhanced transcriptional activity of the K392R mutant form of STAT3 found in a patient with early onset diabetes is not fully dependent on phosphorylation of Tyrosine-705. DIABETOLOGIA, 57, S154-S155. Author URL.
Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N (2014). Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. Indian Journal of Pediatrics, 81(11), 1237-1239. Abstract.
Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N (2014). Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. The Indian Journal of Pediatrics Abstract.
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.
Arya VB, Rahman S, Senniappan S, Flanagan SE, Ellard S, Hussain K (2014). HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. Diabet Med, 31(3), e11-e15. Abstract.  Author URL.  Full text.
Demirbilek H, Shah P, Arya VB, Hinchey L, Flanagan SE, Ellard S, Hussain K (2014). Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. J Clin Endocrinol Metab, 99(10), 3660-3667. Abstract.  Author URL.
Vasanwala RF, Lim SH, Ellard S, Yap F (2014). Neonatal Diabetes in a Singapore Children's Hospital: Molecular Diagnoses of Four Cases. ANNALS ACADEMY OF MEDICINE SINGAPORE, 43(6), 314-319. Author URL.
Ozturk MA, Kurtoglu S, Bastug O, Korkmaz L, Daar G, Memur S, Halis H, Gunes T, Hussain K, Ellard S, et al (2014). Neonatal diabetes in an infant of a diabetic mother: same novel INS missense mutation in the mother and her offspring. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(7-8), 745-748. Author URL.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia Full text.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia, 57(11), 2421-2424.
Allen HL, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CLS, Weedon MN, Ellard S (2014). Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. Journal of Medical Genetics, 51(4), 264-267. Abstract.
Lango Allen H, Caswell R, Xie W, Xu X, Wragg C, Turnpenny PD, Turner CLS, Weedon MN, Ellard S (2014). Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet, 51(4), 264-267. Abstract.  Author URL.  Full text.
Ellard S, De Franco E (2014). Next-generation sequencing for the diagnosis of monogenic diabetes and discovery of novel aetiologies. Frontiers in Diabetes, 23, 71-86. Abstract.
Arya VB, Senniappan S, Demirbilek H, Alam S, Flanagan SE, Ellard S, Hussain K (2014). Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. PLoS One, 9(5). Abstract.  Author URL.  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.
Abraham N, Ahamed A, Unnikrishnan AG, Kumar H, Ellard S (2014). Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report. Journal of the Pancreas, 15(2), 198-200. Abstract.
Abujbara MA, Liswi MI, El-Khateeb MS, Flanagan SE, Ellard S, Ajlouni KM (2014). Permanent neonatal diabetes mellitus in Jordan. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(9-10), 879-883. Author URL.
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.
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.
Ersoy B, Ozhan B, Kiremitci S, Rubio-Cabezas O, Ellard S (2014). Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome. EUROPEAN JOURNAL OF PEDIATRICS, 173(12), 1565-1568. Author URL.
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.
Kavvoura FK, Raimondo A, Thanabalasingham G, Barrett A, Webster AL, Shears D, Mann NP, Ellard S, Gloyn AL, Owen KR, et al (2014). Reclassification of diabetes etiology in a family with multiple diabetes phenotypes. J Clin Endocrinol Metab, 99(6), E1067-E1071. Abstract.  Author URL.
Senniappan S, Alexandrescu S, Tatevian N, Shah P, Arya V, Flanagan S, Ellard S, Rampling D, Ashworth M, Brown RE, et al (2014). Sirolimus Therapy in Infants with Severe Hyperinsulinemic Hypoglycemia. NEW ENGLAND JOURNAL OF MEDICINE, 370(12), 1131-1137. Author URL.
Senniappan S, Alexandrescu S, Tatevian N, Shah P, Arya V, Flanagan S, Ellard S, Rampling D, Ashworth M, Brown RE, et al (2014). Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med, 370(12), 1131-1137. 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.
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Mcglacken-Byrne SM, Hawkes CP, Flanagan SE, Ellard S, Mcdonnell CM, Murphy NP (2014). The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series. Diabetic Medicine, 31(1). Abstract.
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Freathy RM, Chakera AJ, Ellard S, Hattersley AT, Dunne F (2014). Women with gestational diabetes diagnosed by IADPSG criteria have a different genetic predisposition than those diagnosed by WHO criteria. DIABETIC MEDICINE, 31, 68-68. Author URL.
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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.
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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.
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Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (2013). Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European Journal of Endocrinology, 168(4), 557-564. Abstract.
Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR (2013). Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Archives of Disease in Childhood: Fetal and Neonatal Edition
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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.
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.
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.
Şimşek E, Binay C, Flanagan SE, Ellard S, Hussain K, Kabukçuoǧlu S (2013). Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra. Turkish Journal of Pediatrics, 55(6), 584-590. Abstract.
Rubio-Cabezas O, Ellard S (2013). Diabetes mellitus in neonates and infants: Genetic heterogeneity, clinical approach to diagnosis, and therapeutic options. Hormone Research in Paediatrics, 80(3), 137-146. Abstract.
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.
Mughal SA, Chambers JC, Kelly MA, Ellard S, Kooner JS, McCarthy MI, Owen KR (2013). Evaluation of high sensitivity C-reactive protein as a screening tool for detecting young South Asians with maturity-onset diabetes of the young due to HNF1A mutations. DIABETIC MEDICINE, 30, 61-61. 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.
Ellard S (2013). Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism. BRITISH JOURNAL OF HOSPITAL MEDICINE, 74(2), 68-68. 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.
Calton EA, Temple IK, Mackay DJG, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC (2013). Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics
Calton EA, Temple IK, Mackay DJG, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC (2013). Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics, 56(2), 114-117. Abstract.
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.
Setoodeh A, Haghighi A, Saleh-Gohari N, Ellard S, Haghighi A (2013). Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia. Gene, 519(2), 295-297. Abstract.  Full text.
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.
McDonald TJ, Ellard S (2013). Maturity onset diabetes of the young: identification and diagnosis. Ann Clin Biochem, 50(Pt 5), 403-415. Abstract.  Author URL.
Cooke T, Carroll C, Zajicek J, Ellard S, Morrison K (2013). Molecular genetic studies of neurodegenerative disease. J Neurol Neurosurg Psychiatry, 84(11). Abstract.  Author URL.
Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, et al (2013). Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. American Journal of Medical Genetics, Part A
Sparrow DB, Faqeih EA, Sallout B, Alswaid A, Ababneh F, Al-Sayed M, Rukban H, Eyaid WM, Kageyama R, Ellard S, et al (2013). Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. American Journal of Medical Genetics, Part A, 161(9), 2244-2249. Abstract.
Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S (2013). Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia. Human Mutation, 34(5), 669-685. Abstract.
Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S (2013). Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat, 34(5), 669-685. Abstract.  Author URL.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, et al (2013). Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. American Journal of Human Genetics, 92(1), 131-136. Full text.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, et al (2013). Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet, 92(1), 131-136. Abstract.  Author URL.
Kavvoura FK, Thanabalasingham G, Webster AL, Mann N, Ellard S, Gloyn AL, Owen KR (2013). One is never enough: a case report of three different diabetes phenotypes in a single family. DIABETIC MEDICINE, 30, 1-1. Author URL.
Chandran S, Peng FYK, Rajadurai VS, Lu YT, Chang KTE, Flanagan SE, Ellard S, Hussain K (2013). Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. Endocrinol Diabetes Metab Case Rep, 2013 Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, Anik A, Ellard S, Bober E (2013). Permanent neonatal diabetes caused by a novel mutation in the INS gene. DIABETES RESEARCH AND CLINICAL PRACTICE, 99(1), E5-E8. Author URL.
Kshirsagar VY, Ahmed M, Colaco S, Houghton JAL, Ellard S (2013). Permanent neonatal diabetes due to a novel L105P (c.314T > C; p.Leu105Pro) heterozygous mutation in insulin gene. INTERNATIONAL JOURNAL OF DIABETES IN DEVELOPING COUNTRIES, 33(4), 226-228. Author URL.
Bee YM, Zhao Y, Ellard S, Hattersley AT, Yap F (2013). Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism. Pediatric Diabetes
Kanakatti Shankar R, Pihoker C, Dolan LM, Standiford D, Badaru A, Dabelea D, Rodriguez B, Black MH, Imperatore G, Hattersley A, et al (2013). Permanent neonatal diabetes mellitus: Prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study. Pediatric Diabetes, 14(3), 174-180. Abstract.
Khoriati D, Arya VB, Flanagan SE, Ellard S, Hussain K (2013). Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation. BMJ Case Reports 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.
Ersoy B, Özhan B, Kiremitçi S, Rubio-Cabezas O, Ellard S (2013). Primary hypothyroidism: an unusual manifestation of Wolcott–Rallison syndrome. European Journal of Pediatrics, 173(12), 1565-1568. Abstract.
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.
McGlacken-Byrne SM, Hawkes CP, Flanagan S, Ellard S, McDonnell C, Murphy NP (2013). The Evolving Course of HNF4A Hyperinsulinaemic Hypoglycaemia: a Case Series. IRISH JOURNAL OF MEDICAL SCIENCE, 182, S146-S146. Author URL.
Dua V, Yadav SP, Kumar V, Khan AA, Puri R, Verma IC, Flanagan SE, Ellard S, Sachdeva A (2013). Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest. Pediatric Blood and Cancer, 60(7), 1242-1243.
Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A (2013). Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatric Diabetes
Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A (2013). Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatric Diabetes, 14(5), 384-387. Abstract.
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.
Mughal SA, Eininger AK, Novokmet M, Ellard S, James TJ, Lauc G, McCarthy MI, Boehm BO, Owen KR (2013). Use of high sensitivity C-reactive protein and DG9-glycan index for differential diagnosis of maturity-onset diabetes of the young due to HNF1A mutations in young adults. DIABETIC MEDICINE, 30, 26-26. Author URL.
Al-Shawi M, Mutair AA, Ellard S, Habeb AM (2013). Variable phenotype in five patients with wolcott-rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation. Journal of Pediatric Endocrinology and Metabolism, 26(7-8), 757-760. Abstract.
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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.
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Rachmiel M, Rubio-Cabezas O, Ellard S, Hattersley AT, Perlman K (2012). Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene. Pediatr Diabetes, 13(6), e26-e29. Abstract.  Author URL.
Karges B, Schnur D, Ellard S, Kentrup H, Karges W (2012). Effective treatment of diabetes caused by activating ABCC8/SUR1 mutation with glimepiride. Diabet Med, 29(5), 692-693. Author URL.
Boguszewski CL, Fighera TM, Bornschein A, Marques FM, Dénes J, Rattenbery E, Maher ER, Stals K, Ellard S, Korbonits M, et al (2012). Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma. Arquivos Brasileiros de Endocrinologia e Metabologia, 56(8), 507-512. Abstract.
Boguszewski CL, Fighera TM, Bornschein A, Marques FM, Denes J, Rattenbery E, Maher ER, Stals K, Ellard S, Korbonits M, et al (2012). Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma. ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA, 56(8), 507-512. Author URL.
Quinlan C, Guegan K, Offiah A, O' Neill R, Hiorns MP, Ellard S, Bockenhauer D, Van't Hoff W, Waters AM (2012). Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. PEDIATRIC NEPHROLOGY, 27(4), 581-588. Author URL.
Sansbury FH, Ellard S, Shaw-Smith C, Turnpenny P (2012). HIRSCHSPRUNG'S DISEASE Many patients have an identifiable genetic cause of Hirschsprung's disease. BRITISH MEDICAL JOURNAL, 345 Author URL.
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.
Haghighi A, Razzaghy-Azar M, Talea A, Sadeghian M, Ellard S, Haghighi A (2012). Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. EUROPEAN JOURNAL OF MEDICAL GENETICS, 55(11), 620-624. Author URL.
Habeb AM, Al-Magamsi MSF, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S (2012). Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatric Diabetes, 13(6), 499-505. Abstract.
Habeb AM, Al-Magamsi MSF, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S (2012). Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes, 13(6), 499-505. Abstract.  Author URL.
Beer NL, Osbak KK, Van De Bunt M, Tribble ND, Steele AM, Wensley KJ, Edghill EL, Colcough K, Barrett A, Valentínová L, et al (2012). Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in Cis. Diabetes Care, 35(7), 1482-1484. Abstract.
Guegan K, Stals K, Day M, Turnpenny P, Ellard S (2012). JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome. Clinical Genetics, 82(1), 33-40. Abstract.
Guegan K, Stals K, Day M, Turnpenny P, Ellard S (2012). JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome. Clin Genet, 82(1), 33-40. 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.
Heslegrave AJ, Kapoor RR, Eaton S, Chadefaux B, Akcay T, Simsek E, Flanagan SE, Ellard S, Hussain K (2012). Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet Journal of Rare Diseases, 7(1). 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.
Sansbury FH, Ellard S, Shaw-Smith C, Turnpenny P (2012). Many patients have an identifiable genetic cause of Hirschsprung's disease. BMJ, 345 Author URL.
Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S (2012). Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes, 13(3), 285-289. Abstract.  Author URL.
Jain V, Flanagan SE, Ellard S (2012). Permanent neonatal diabetes caused by a novel mutation. Indian Pediatr, 49(6), 486-488. Abstract.  Author URL.
Dupont J, Pereira C, Medeira A, Duarte R, Ellard S, Sampaio L (2012). Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: Transition from insulin to oral sulfonylureas. Journal of Pediatric Endocrinology and Metabolism, 25(3-4), 367-370. 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.
Brooks AM, Owens M, Sayer JA, Salzmann M, Ellard S, Vaidya B (2012). Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene. QJM, 105(8), 791-794. Author URL.
Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, et al (2012). Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13(4), 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.
Oztekin O, Durmaz E, Kalay S, Flanagan SE, Ellard S, Bircan I (2012). Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene. Journal of Perinatology, 32(8), 645-647. Abstract.
Thanabalasingham G, Pal A, Selwood MP, Dudley C, Fisher K, Bingley PJ, Ellard S, Farmer AJ, McCarthy MI, Owen KR, et al (2012). Systematic assessment of etiology in adults with a clinical diagnosis of young-onset type 2 diabetes is a successful strategy for identifying maturity-onset diabetes of the young. Diabetes Care, 35(6), 1206-1212. Abstract.
Banerjee I, Avatapalle B, Petkar A, Skae M, Padidela R, Ehtisham S, Patel L, Rigby L, Flanagan S, Ellard S, et al (2012). The association of cardiac ventricular hypertrophy with congenital hyperinsulinism. European Journal of Endocrinology, 167(5), 619-624. Abstract.
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.
Ismail D, Kapoor RR, Smith VV, Ashworth M, Blankenstein O, Pierro A, Flanagan SE, Ellard S, Hussain K (2012). The heterogeneity of focal forms of congenital hyperinsulinism. J Clin Endocrinol Metab, 97(1), E94-E99. Abstract.  Author URL.
Durmaz E, Flanagan S, Berdeli A, Semiz S, Akcurin S, Ellard S, Bircan I (2012). Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation. Journal of Pediatric Endocrinology and Metabolism, 25(7-8), 805-808. Abstract.
Mihçi E, Türkkahraman D, Ellard S, Akçurin S, Bircan I (2012). Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 4(2), 101-103. Abstract.
Männikkö R, Stansfeld PJ, Ashcroft AS, Hattersley AT, Sansom MSP, Ellard S, Ashcroft FM (2011). A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated. Journal of Physiology, 589(13), 3071-3083. Abstract.
Shepherd M, Cropper J, Flanagan S, Ellard S, Hattersley A (2011). A diagnosis of monogenic neonatal diabetes can improve treatment and glycaemic control. Journal of Diabetes Nursing, 15(1).
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.
Chahal HS, Stals K, Unterländer M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, et al (2011). AIP mutation in pituitary adenomas in the 18th century and today. New England Journal of Medicine, 364(1), 43-50.
Balasubramaniam S, Kapoor R, Yeow JHH, Lim PG, Flanagan S, Ellard S, Hussain K (2011). Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome. Journal of Pediatric Endocrinology and Metabolism, 24(7-8), 573-577. Abstract.
Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, Besser GM, Atkinson AB, Morrison PJ, Howlett TA, et al (2011). Brief Report: AIP Mutation in Pituitary Adenomas in the 18th Century and Today. NEW ENGLAND JOURNAL OF MEDICINE, 364(1), 43-50. Author URL.  Full text.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (European Journal of Endocrinology (2011) 164 (919-926)). European Journal of Endocrinology, 165(3), 485-486.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (vol 164, pg 919, 2011). EUROPEAN JOURNAL OF ENDOCRINOLOGY, 165(3), 485-486. Author URL.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. Eur J Endocrinol, 164(6), 919-926. Abstract.  Author URL.
Spiegel R, Dobbie A, Hartman C, de Vries L, Ellard S, Shalev SA (2011). Clinical Characterization of a Newly Described Neonatal Diabetes Syndrome Caused by RFX6 Mutations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(11), 2821-2825. Author URL.
Ocal G, Flanagan SE, Hacihamdioglu B, Berberoglu M, Siklar Z, Ellard S, Erdeve SS, Okulu E, Akin IM, Atasay B, et al (2011). Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 24(11-12), 1019-1023. Author URL.
Thakur S, Flanagan SE, Ellard S, Verma IC (2011). Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene. Indian Pediatr, 48(9), 733-734. Abstract.  Author URL.
Ghazi AA, Dezfooli AA, Mohamadi F, Yousefi SV, Amirbaigloo A, Ghazi S, Pourafkari M, Berney D, Ellard S, Grossman AB, et al (2011). Cushing syndrome secondary to a thymic carcinoid tumor due to multiple endocrine neoplasia type 1. Endocrine Practice, 17(4). Abstract.
Hoertenhuber T, Fritsch M, Berger G, Flanagan SE, Ellard S, Schober E (2011). Diabetes in the 4th month of Life - a rare Case of permanent neonatal Diabetes mellitus. WIENER KLINISCHE WOCHENSCHRIFT, 123, S16-S17. Author URL.
Beer NL, Van De Bunt M, Colclough K, Lukacs C, Arundel P, Chik CL, Grimsby J, Ellard S, Gloyn AL (2011). Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans. Journal of Biological Chemistry, 286(21), 19118-19126. Abstract.
Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S (2011). Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. Clin Genet, 79(6), 582-587. Abstract.  Author URL.
Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, et al (2011). Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet, 89(2), 308-312. Abstract.  Author URL.
Ismail D, Smith VV, de Lonlay P, Ribeiro M-J, Rahier J, Blankenstein O, Flanagan SE, Bellanne-Chantelot C, Verkarre V, Aigrain Y, et al (2011). Familial Focal Congenital Hyperinsulinism. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 96(1), 24-28. Author URL.
Ismail D, Smith VV, de Lonlay P, Ribeiro M-J, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, et al (2011). Familial focal congenital hyperinsulinism. J Clin Endocrinol Metab, 96(1), 24-28. 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.
Carr IM, Camm N, Taylor GR, Charlton R, Ellard S, Sheridan EG, Markham AF, Bonthron DT (2011). GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms. Journal of Medical Genetics, 48(2), 123-130. Abstract.
Flanagan SE, Patch A-M, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, et al (2011). Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab, 96(3), E498-E502. 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.
Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K, et al (2011). Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia, 54(10), 2575-2583. Abstract.  Full text.
Kyithar MP, Bacon S, Pannu KK, Rizvi SR, Colclough K, Ellard S, Byrne MM (2011). Identification of HNF1A-MODY and HNF4A-MODY in Irish families: Phenotypic characteristics and therapeutic implications. Diabetes and Metabolism, 37(6), 512-519. Abstract.
Agnieszka G, Young J, Shepherd M, Ellard S, Fletcher J (2011). Importance of genetic testing and recognition of neonatal diabetes: a case report. Journal of Diabetes Nursing, 15(4). Abstract.
Powell PD, Bellanné-Chantelot C, Flanagan SE, Ellard S, Rooman R, Hussain K, Skae M, Clayton P, De Lonlay P, Dunne MJ, et al (2011). In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. Diabetes, 60(4), 1223-1228. Abstract.
McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, Williams A, Hattersley AT, Ellard S (2011). Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes. Diabet Med, 28(9), 1028-1033. Abstract.  Author URL.
Ioannou YS, Ellard S, Hattersley A, Skordis N (2011). KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients. Pediatr Diabetes, 12(2), 133-137. Abstract.  Author URL.
Simms RJ, Sayer JA, Quinton R, Walker M, Ellard S, Goodship THJ (2011). Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. QJM, 104(10), 881-883. Author URL.
Minton JAL, Flanagan SE, Ellard S (2011). Mutation surveyor: software for DNA sequence analysis. Methods Mol Biol, 688, 143-153. 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.
Flanagan SE, Kapoor RR, Smith VV, Hussain K, Ellard S (2011). Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia. Front Endocrinol (Lausanne), 2 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.
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.
Sabah M, Young E, Fryer A, Ellard S, Gutowski NJ (2011). THE PHENOTYPE IN E410K BETA-TUBULIN ISOTYPE 3 MUTATIONS. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 82(9). Author URL.
Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, et al (2011). The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol, 164(5), 733-740. Abstract.  Author URL.
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.
Siklar Z, Ellard S, Okulu E, Berberoglu M, Young E, Erdeve SS, Mungan IA, Hacihamdioglu B, Erdeve O, Arsan S, et al (2011). Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 24(11-12), 1077-1080. 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.
Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD (2010). Autosomal Dominant Spondylocostal Dysostosis in Three Generations of a Macedonian Family: Negative Mutation Analysis of DLL3, MESP2, HES7, and LFNG. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(6), 1378-1382. Author URL.
Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, et al (2010). Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Human Mutation, 31(8), 950-960. Abstract.
Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K (2010). Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks. Hormone Research in Paediatrics, 73(4), 287-292. Abstract.
Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, et al (2010). Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol, 162(5), 987-992. Abstract.  Author URL.  Full text.
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.
Padidela R, Kapoor RR, Moyo Y, Gilbert C, Flanagan SE, Ellard S, Hussain K (2010). Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. Nature Reviews Endocrinology, 6(11), 646-650. 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.
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.
Hanley KP, Hearn T, Berry A, Carvell MJ, Patch AM, Williams LJ, Sugden SA, Wilson DI, Ellard S, Hanley NA, et al (2010). In vitro expression of NGN3 identifies RAB3B as the predominant Ras-associated GTP-binding protein 3 family member in human islets. Journal of Endocrinology, 207(2), 151-161. Abstract.
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.
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.
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.
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.
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.
Wirsing A, Johnstone KA, Harries LW, Ellard S, Ryffel GU, Stanik J, Gasperikova D, Klimes I, Murphy R (2010). Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. Diabetic Medicine, 27(6), 631-635.
Carroll A, Mc Donnell C, Moloney S, Flanagan SE, Monavari A, Ellard S, Murphy NP (2010). PRESENTATION, CLINICAL AND GENETIC OUTCOMES IN a SERIES OF INFANTS WITH CONGENITAL HYPERINSULINISM. PEDIATRIC RESEARCH, 68, 545-546. Author URL.
Balasubramanian M, Shield JPH, Acerini CL, Walker J, Ellard S, Marchand M, Polak M, Vaxillaire M, Crolla JA, Bunyan DJ, et al (2010). Pancreatic Hypoplasia Presenting with Neonatal Diabetes Mellitus in Association with Congenital Heart Defect and Developmental Delay. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(2), 340-346. Author URL.
Edghill EL, Flanagan SE, Ellard S (2010). Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord, 11(3), 193-198. 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.
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.
Aggarwal V, Krishnamurthy S, Seth A, Bingham C, Ellard S, Mukherjee SB, Aneja S (2010). The renal cysts and diabetes (RCAD) syndrome in a child with deletion of the hepatocyte nuclear factor-1β gene. Indian Journal of Pediatrics, 77(12), 1429-1431. Abstract.
Flanagan SE, Patch A-M, Ellard S (2010). Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers, 14(4), 533-537. Abstract.  Author URL.
Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K (2009). 3-Hydroxyacyl-coenzyme a dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab, 94(7), 2221-2225. 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.
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.
Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM (2009). An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1. J Clin Endocrinol Metab, 94(7), 2551-2557. 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.
Lippert E, Girodon F, Hammond E, Jelinek J, Reading NS, Fehse B, Hanlon K, Hermans M, Richard C, Swierczek S, et al (2009). Concordance of assays designed for the quantification of JAK2V617F: a multicenter study. Haematologica, 94(1), 38-45. Abstract.  Author URL.
Hanlon K, Harries LW, Ellard S, Rudin CE (2009). Evaluation of 13q14 status in multiple myeloma by digital single nucleotide polymorphism technology. J Mol Diagn, 11(5), 450-457. Abstract.  Author URL.
Hanlon K, Ellard S, Rudin CE, Thorne S, Davies T, Harries LW (2009). Evaluation of 13q14 status in patients with chronic lymphocytic leukemia using single nucleotide polymorphism-based techniques. J Mol Diagn, 11(4), 298-305. Abstract.  Author URL.
Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K (2009). Familial post prandial hyperinsulinaemic hypoglycaemia. HORMONE RESEARCH, 72, 299-299. Author URL.
Owens M, Stals K, Ellard S, Vaidya B (2009). Germline mutations in the CDKN1B gene encoding p27 Kip1 are a rare cause of multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf), 70(3), 499-500. Author URL.
Oram RA, Edghill EL, Adalat S, Bockenhauer D, Ellard S, Woolf AS, Bingham C (2009). HNF1B MUTATIONS: REVIEW OF 109 AFFECTED PROBANDS. PEDIATRIC NEPHROLOGY, 24(9), 1804-1804. Author URL.
Bockenhauer D, Adalat S, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, et al (2009). Hepatocyte Nuclear Factor 1B mutations are associated with hypomagnesemia and renal magnesium wasting. PEDIATRIC NEPHROLOGY, 24(4), 885-885. Author URL.
Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K (2009). Hyperinsulinaemic hypoglycaemia. Arch Dis Child, 94(6), 450-457. Abstract.  Author URL.
Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Banerjee I, Shield JP, Ellard S, Hussain K (2009). Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. HORMONE RESEARCH, 72, 298-298. Author URL.
Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, Hussain K, et al (2009). Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol, 161(5), 731-735. Abstract.  Author URL.
Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, et al (2009). Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans. Diabetes, 58(8), 1929-1935. Abstract.  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.
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.
Mazor-Aronovitch K, Ellard S, Modan-Moses D, Anikster Y, Landau H, Pinhas-Hamiel O (2009). Permanent neonatal diabetes caused by compound heterozygous SUR1 mutations with opposite functional effects. HORMONE RESEARCH, 72, 34-35. 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.
Gloyn AL, van de Bunt M, Stratton IM, Lonie L, Tucker L, Ellard S, Holman RR (2009). Prevalence of GCK mutations in individuals screened for fasting hyperglycaemia. Diabetologia, 52(1), 172-174. Author URL.
Kapoor RR, Flanagan SE, Mali G, Shield JP, Hussain K, Ellard S (2009). Prevalence of HNF4A gene mutations in patients with diazoxide responsive hyperinsulinism. HORMONE RESEARCH, 72, 299-299. 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.
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.
Ellard S, Shields B, Tysoe C, Treacy R, Yau S, Mattocks C, Wallace A (2009). Semi-automated unidirectional sequence analysis for mutation detection in a clinical diagnostic setting. Genet Test Mol Biomarkers, 13(3), 381-386. Abstract.  Author URL.
Suliman SGI, Stanik J, McCulloch LJ, Wilson N, Edghill EL, Misovicova N, Gasperikova D, Sandrikova V, Elliott KS, Barak L, et al (2009). Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and metabolism. Diabetes, 58(12), 2954-2961. Abstract.  Author URL.
Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LMJ, Oliveira LA, Nomachi S, Hanai J, Benoist J-F, Ellard S, et al (2009). Spondylocostal dysostosis associated with methylmalonic aciduria. Genet Test Mol Biomarkers, 13(2), 181-183. Abstract.  Author URL.
Skae MS, Banerjee I, Ellard S, Blankenstein O, Kelsey A, Rigby L, Didi M, Blair J, Das U, Amin R, et al (2009). The spectrum of disease in diazoxide responsive hyperinsulinaemic hypoglycaemia. HORMONE RESEARCH, 72, 302-302. Author URL.
Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S (2009). Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat, 30(2), 170-180. Abstract.  Author URL.
Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL (2009). Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Human Mutation, 30(11), 1512-1526. Abstract.
Locke JM, Ellard S, Norwood VF, Harries LW (2009). Variants in the isoform-specific coding regions of the HNF1A, HNF4A and HNF1B genes are not a common cause of familial, young-onset diabetes or renal cysts and diabetes (RCAD). DIABETIC MEDICINE, 26(5), 570-570. Author URL.
Rubio-Cabezas O, Patch A-M, Minton JAL, 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, 94(11), 4162-4170. Abstract.  Author URL.
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.
Akcurin S, Turkkahraman D, Tysoe C, Ellard S, De Leener A, Vassart G, Costagliola S (2008). A family with a novel TSH receptor activating germline mutation (p.Ala485Val). Eur J Pediatr, 167(11), 1231-1237. Abstract.  Author URL.
Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y (2008). A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. American Journal of Medical Genetics, Part A, 146(13), 1713-1717. Abstract.
Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow Y (2008). A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis. Am J Med Genet A, 146A(13), 1713-1717. Abstract.  Author URL.
Christesen HBT, Tribble ND, Molven A, Siddiqui J, Sandal T, Brusgaard K, Ellard S, Njølstad PR, Alm J, Brock Jacobsen B, et al (2008). Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation. Eur J Endocrinol, 159(1), 27-34. Abstract.  Author URL.
Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S (2008). An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes, 57(1), 259-263. Abstract.  Author URL.
Owens M, Ellard S, Vaidya B (2008). Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf), 68(3), 350-354. 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, 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.
Christesen HBT, Tribble ND, Molven A, Siddiqi J, Sandal T, Brusgaard K, Ellard S, Njolstad PR, Alm J, Jacobsen BB, et al (2008). Congenital Hyperinsullnism: Prevalence Prevalence of activating glucokinase mutations and a novel mutation. HORMONE RESEARCH, 70, 41-41. Author URL.
Harries LW, Sloman MJ, Sellers EA, Hattersley AT, Ellard S (2008). DIABETES SUSCEPTIBILITY IN THE CANADIAN OJI-CREE POPULATION IS MODERATED BY ABNORMAL mRNA PROCESSING OF HNF1A G319S TRANSCRIPTS. Diabetes Abstract.
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.
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.
van de Bunt M, Edghill EL, Hussain K, Ellard S, Gloyn AL (2008). Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans. Mol Genet Metab, 94(2), 268-269. Author URL.
Codner E, Garcia H, Ugarte F, Gaete X, Silva R, Arriaza M, Mericq V, Ellard S (2008). Genetic diagnosis allows successful transfer from insulin to sulfonylureas in patients with neonatal diabetes mellitus (NDM). HORMONE RESEARCH, 70, 2-2. Author URL.
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.
Kapoor R, Locke J, Colclough K, Barrett T, Shield J, Ellard S, Hussain K (2008). Genotype-phenotype correlations in patients with Hyperinsulinaemic Hypoglycaemia due to mutations in the HNF4A gene. HORMONE RESEARCH, 70, 40-41. 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.
Miyake N, Chilton J, Psatha M, Cheng L, Andrews C, Chan W-M, Law K, Crosier M, Lindsay S, Cheung M, et al (2008). Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science, 321(5890), 839-843. 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.
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.
Shield JPH, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S (2008). Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes, 57(1), 255-258. 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.
Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet J-F, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, et al (2008). Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet, 82(6), 1334-1341. Abstract.  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.
Murphy R, Cundy T, Ellard S (2008). Novel hepatocyte nuclear factor 4-alpha (HNF4A) promoter mutation in a New Zealand family. DIABETES RESEARCH AND CLINICAL PRACTICE, 79, S30-S30. Author URL.
Turkkahraman D, Bircan I, Tribble ND, Akçurin S, Ellard S, Gloyn AL (2008). Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy. J Pediatr, 153(1), 122-126. Abstract.  Author URL.
Ahamed A, Unnikrishnan AG, Pendsey SS, Nampoothiri S, Bhavani N, Praveen VP, Kumar H, Jayakumar RV, Nair V, Ellard S, et al (2008). Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report. JOP, 9(6), 715-718. 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.
Tysoe C, Law CJ, Caswell R, Clayton P, Ellard S (2008). Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata. Prenat Diagn, 28(5), 384-388. Abstract.  Author URL.
James C, Kapoor R, Eaton S, Flanaghan S, Ellard S, Hussain K (2008). Protein sensitive hyperinsulinaemic hypoglycaemia due to a novel mutation in the short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADH) gene with normal acylcarnitines and urine organic acids. HORMONE RESEARCH, 70, 53-53. Author URL.
Engelmann G, Meyburg J, Shahbek N, Al-Ali M, Hairetis MH, Baker AJ, Rodenburg RJT, Wenning D, Flechtenmacher C, Ellard S, et al (2008). Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis, 31(4), 540-546. 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.
Talapatra I, Kalavalapalli S, Robinson JM, Ellard S, Tymms DJ (2008). Successful discontinuation of insulin treatment after gestational diabetes is shown to be a case of MODY due to a glucokinase mutation. Central European Journal of Medicine, 3(2), 225-228. Abstract.
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.
Dudziak K, Mottalebi N, Senkel S, Edghill EL, Rosengarten S, Roose M, Bingham C, Ellard S, Ryffel GU (2008). Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney Int, 74(2), 210-217. Abstract.  Author URL.
Ioannou SY, Ellard S, Hattetrsley TA, Scordis N (2008). Transient neonatal diabetes mellitus is associated with a R50Q mutation in the Kir6.2 subunit (KCNJ11) gene. HORMONE RESEARCH, 70, 208-208. Author URL.
Murray PJ, Thomas K, Mulgrew CJ, Ellard S, Edghill EL, Bingham C (2008). Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome. Nephrol Dial Transplant, 23(7), 2412-2415. 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.
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.
Kerecuk L, Sajoo A, McGregor L, Berg J, Haq MR, Sebire NJ, Bingham C, Edghill EL, Ellard S, Taylor J, et al (2007). Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. Nephrol Dial Transplant, 22(1), 259-263. Author URL.
Wolstencroft EC, Hanlon K, Harries LW, Standen GR, Sternberg A, Ellard S (2007). Development of a quantitative real-time polymerase chain reaction assay for the detection of the JAK2 V617F mutation. J Mol Diagn, 9(1), 42-46. 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.
Ellard S (2007). From mutagens to de novo mutations causing neonatal diabetes; defining the genetic aetiology can improve treatment and quality of life. MUTAGENESIS, 22(6), 435-435. Author URL.
Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, et al (2007). Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy. Diabet Med, 24(12), 1393-1399. Abstract.  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.
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.
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.
Jenkins D, Bitner-Glindzicz M, Thomasson L, Malcolm S, Warne SA, Feather SA, Flanagan SE, Ellard S, Bingham C, Santos L, et al (2007). Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. J Pediatr Urol, 3(1), 2-9. 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 (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.
Saukko PM, Ellard S, Richards SH, Shepherd MH, Campbell JL (2007). Patients' understanding of genetic susceptibility testing in mainstream medicine: qualitative study on thrombophilia. BMC Health Serv Res, 7 Abstract.  Author URL.  Full text.
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.
Gloyn AL, Marchant C, Linder M, von Puttkamer J, Wasser A, Clark A, Ellard S, Lahr G, Wabitsch M (2007). Phenotypic heterogeneity in a family with a novel activating glucokinase (GCK) mutation (G68V) causing familial persistent hyperinsulinaemic hypoglycaemia of infancy. DIABETIC MEDICINE, 24, 36-36. 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.
Eller P, Kaser S, Lhotta K, Edghill EL, Ellard S, Ebenbichler C, Patsch JR (2007). Renal cysts and diabetes due to a heterozygous HNF-1beta gene deletion. Nephrol Dial Transplant, 22(4), 1271-1272. 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.
Rankin J, Ellard S (2007). The laminopathies: a clinical review. (vol 70, pg 261, 2006). CLINICAL GENETICS, 71(3), 293-293. Author URL.
Chan W-M, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, et al (2007). Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet, 8 Abstract.  Author URL.
Akcurin S, Turkkahraman D, Tysoe C, Ellard S (2006). A family with a novel TSH-R activating mutation. HORMONE RESEARCH, 65, 48-48. Author URL.
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.
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.
Gloyn AL, Ellard S (2006). Defining the genetic aetiology of monogenic diabetes can improve treatment. Expert Opin Pharmacother, 7(13), 1759-1767. 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.
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.
Wickham CL, Harries LW, Sarsfield P, Joyner MV, Ellard S (2006). Large variation in t(11;14)(q13;q32) and t(14;18)(q32;q21) translocation product size is confirmed by sequence analysis of PCR products. Clin Lab Haematol, 28(4), 248-253. Abstract.  Author URL.
Robinson AG, Turbin D, Thomson T, Yorida E, Ellard S, Bajdik C, Huntsman D, Gelmon K (2006). Molecular predictive factors in patients receiving trastuzumab-based chemotherapy for metastatic disease. Clin Breast Cancer, 7(3), 254-261. Abstract.  Author URL.
Sparrow DB, Chapman G, Wouters MA, Whittock NV, Ellard S, Fatkin D, Turnpenny PD, Kusumi K, Sillence D, Dunwoodie SL, et al (2006). Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet, 78(1), 28-37. 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.
Gloyn AL, Siddiqui J, Ellard S (2006). Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat, 27(3), 220-231. Abstract.  Author URL.
Ellard S, Colclough K (2006). Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young. Hum Mutat, 27(9), 854-869. 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.
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.
Rankin J, Ellard S (2006). The laminopathies: a clinical review. Clin Genet, 70(4), 261-274. Abstract.  Author URL.
Harries LW, Wickham CL, Evans JC, Rule SA, Joyner MV, Ellard S (2005). Analysis of haematopoietic chimaerism by quantitative real-time polymerase chain reaction. Bone Marrow Transplant, 35(3), 283-290. 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.
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.
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.
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.
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.
Sparrow DB, Chapman G, Whittock NV, Sillence D, Ellard S, Turnpenny PD, Dunwoodie SL (2005). Mutation of the LUNATIC FRINGE gene causes spondylocostal dysostosis in humans. MECHANISMS OF DEVELOPMENT, 122, S152-S153. 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
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.
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.
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.
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.
Veitenhansl M, Stegner K, Hierl F-X, Dieterle C, Feldmeier H, Gutt B, Landgraf R, Garrow AP, Vileikyte L, Findlow A, et al (2004). 40th EASD Annual Meeting of the European Association for the Study of Diabetes : Munich, Germany, 5-9 September 2004. Diabetologia, 47(Suppl 1), A1-A464. 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.
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.
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.
Ellard S (2004). Multiple endocrine neoplasia types 1 and 2. Methods Mol Med, 92, 267-283. Author URL.
Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD (2004). Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet, 74(6), 1249-1254. Abstract.  Author URL.
Gloyn AL, Cummings EA, Edghill EL, Harries LW, Scott R, Costa T, Temple IK, Hattersley AT, Ellard S (2004). Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel. J Clin Endocrinol Metab, 89(8), 3932-3935. Abstract.  Author URL.
Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S (2004). Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. Clin Endocrinol (Oxf), 60(6), 711-718. Abstract.  Author URL.
Whittock NV, Ellard S, Duncan J, de Die-Smulders CEM, Vles JSH, Turnpenny PD (2004). Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. Clin Genet, 66(1), 67-72. Abstract.  Author URL.
Frayling TM, Lindgren CM, Chevre JC, Menzel S, Wishart M, Benmezroua Y, Brown A, Evans JC, Rao PS, Dina C, et al (2003). A genome-wide scan in families with maturity-onset diabetes of the young: evidence for further genetic heterogeneity. Diabetes, 52(3), 872-881. Abstract.  Author URL.
Ferguson SC, Deary IJ, Perros P, Evans JC, Ellard S, Hattersley AT, Frier BM (2003). Apolipoprotein-E influences aspects of intellectual ability in type 1 diabetes (vol 52, pg 145, 2003). DIABETES, 52(7), 1877-1877. Author URL.
Ferguson SC, Deary IJ, Perros P, Evans JC, Ellard S, Hattersley AT, Frier BM (2003). Apolipoprotein-e influences aspects of intellectual ability in type 1 diabetes. Diabetes, 52(1), 145-148. Abstract.  Author URL.
Bingham C, Ellard S, van't Hoff WG, Simmonds HA, Marinaki AM, Badman MK, Winocour PH, Stride A, Lockwood CR, Nicholls AJ, et al (2003). Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1beta gene mutation. Kidney Int, 63(5), 1645-1651. Abstract.  Author URL.
Bohn S, Thomas H, Turan G, Ellard S, Bingham C, Hattersley AT, Ryffel GU (2003). Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. J Am Soc Nephrol, 14(8), 2033-2041. Abstract.  Author URL.
Owen KR, Stride A, Ellard S, Hattersley AT (2003). Etiological investigation of diabetes in young adults presenting with apparent type 2 diabetes. Diabetes Care, 26(7), 2088-2093. Abstract.  Author URL.
Thomson KL, Gloyn AL, Colclough K, Batten M, Allen LIS, Beards F, Hattersley AT, Ellard S (2003). Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat, 22(5). Abstract.  Author URL.
Lambert AP, Ellard S, Allen LIS, Gallen IW, Gillespie KM, Bingley PJ, Hattersley AT (2003). Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes. Diabetes Care, 26(2), 333-337. Abstract.  Author URL.
Gloyn AL, Noordam K, Willemsen MAAP, Ellard S, Lam WWK, Campbell IW, Midgley P, Shiota C, Buettger C, Magnuson MA, et al (2003). Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations. Diabetes, 52(9), 2433-2440. Abstract.  Author URL.
Whittock NV, Turnpenny PD, Tuerlings J, Ellard S (2003). Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. Prenat Diagn, 23(7), 575-579. Abstract.  Author URL.
Shepherd M, Pearson ER, Houghton J, Salt G, Ellard S, Hattersley AT (2003). No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care, 26(11), 3191-3192. Author URL.
Turnpenny PD, Whittock N, Duncan J, Dunwoodie S, Kusumi K, Ellard S (2003). Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. J Med Genet, 40(5), 333-339. Abstract.  Author URL.
Whittock NV, Izatt L, Mann A, Homfray T, Bennett C, Mansour S, Hurst J, Fryer A, Saggar AK, Barwell JG, et al (2003). Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2). J Invest Dermatol, 121(4), 939-942. Author URL.
Wickham CL, Armitage H, Joyner MV, Sarsfield P, Boyce M, Wilkins BS, Jones DB, Ellard S (2003). Quantitation of cyclin D1 over-expression using competitive fluorescent reverse transcription polymerase chain reaction: a tool for the differential diagnosis of mantle cell lymphoma. Med Oncol, 20(1), 77-85. Abstract.  Author URL.
Owen KR, Donohoe M, Ellard S, Hattersley AT (2003). Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med, 20(10), 823-827. Abstract.  Author URL.
Andersen G, Hansen T, Gharani N, Frayling TM, Owen KR, Sampson M, Ellard S, Walker M, Hitman GA, Hattersley AT, et al (2002). A common Gly482Ser polymorphism of PGC-1 is associated with type 2 diabetes mellitus in two European populations. DIABETES, 51, A49-A50. Author URL.
Ellard S, Bulman MP, Harries LW, Shepherd M (2002). Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. Diabetologia, 45(10), 1463-1467.
Gloyn AL, Ellard S, Shield JP, Temple IK, Mackay DJG, Polak M, Barrett T, Hattersley AT (2002). Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes. Diabetologia, 45(2). Author URL.
Thomas H, Badenberg B, Bulman M, Lemm I, Lausen J, Kind L, Roosen S, Ellard S, Hattersley AT, Ryffel GU, et al (2002). Evidence for haploinsufficiency of the human HNF1alpha gene revealed by functional characterization of MODY3-associated mutations. Biol Chem, 383(11), 1691-1700. Abstract.  Author URL.
Gloyn AL, Noordam K, Willemsen MA, Watts AB, Littlechild JA, Ellard S, Hatterlsey AT (2002). Familial hyperinsulinism caused by a novel activating glucokinase mutation. DIABETES, 51, A260-A260. Author URL.
Turner JJO, Leotlela PD, Pannett AAJ, Forbes SA, Bassett JHD, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, et al (2002). Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab, 87(6), 2688-2693. Abstract.  Author URL.
Owen KR, Shepherd M, Stride A, Ellard S, Hattersley AT (2002). Heterogeneity in young adult onset diabetes: aetiology alters clinical characteristics. Diabet Med, 19(9), 758-761. Abstract.  Author URL.
Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT (2002). Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care, 25(12), 2287-2291. Abstract.  Author URL.
Owen K, Ayres S, Ellard S, Hattersley AT (2002). Investigations for a specific aetiology are beneficial in a subset of young-onset type 2 diabetes. DIABETES, 51, A235-A235. Author URL.
Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT (2002). Maturity-onset diabetes of the young caused by a balanced translocation where the 20q12 break point results in disruption upstream of the coding region of hepatocyte nuclear factor-4alpha (HNF4A) gene. Diabetes, 51(7), 2329-2333. Abstract.  Author URL.
Gloyn AL, Ellard S, Shepherd M, Howell RT, Parry EM, Jefferson A, Levy ER, Hattersley AT (2002). Novel insights into the regulation of the hepatocyte nuclear factor 4 alpha gene from the analysis of a balanced translocation in maturity-onset diabetes of the young. DIABETES, 51, A264-A264. Author URL.
Waller SC, Rees L, Woolf AS, Ellard S, Pearson ER, Hattersley AT, Bingham C (2002). Severe hyperglycemia after renal transplantation in a pediatric patient with a mutation of the hepatocyte nuclear factor-1beta gene. Am J Kidney Dis, 40(6), 1325-1330. Abstract.  Author URL.
Bingham C, Ellard S, Cole TRP, Jones KE, Allen LIS, Goodship JA, Goodship THJ, Bakalinova-Pugh D, Russell GI, Woolf AS, et al (2002). Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations. Kidney Int, 61(4), 1243-1251. Abstract.  Author URL.
Thomas H, Jaschkowitz K, Bulman M, Frayling TM, Mitchell SM, Roosen S, Lingott-Frieg A, Tack CJ, Ellard S, Ryffel GU, et al (2001). A distant upstream promoter of the HNF-4alpha gene connects the transcription factors involved in maturity-onset diabetes of the young. Hum Mol Genet, 10(19), 2089-2097. Abstract.  Author URL.
Frayling TM, Menzel S, Wishart M, Vaxillaire M, Lindgren C, Tuomi T, Wang Y, Brown A, Bulman MP, Ellard S, et al (2001). A genome scan reveals heterogeneity among European families with maturity onset diabetes of the young. DIABETOLOGIA, 44, A64-A64. Author URL.
Mitchell SMS, Thomas H, Jaschkowitz K, Bulman MP, Frayling TM, Tack C, Ellard S, Ryffel GU, Hattersley AT (2001). A mutation of a novel splice variant of HNF-4a co-segregates with maturity-onset diabetes of the young (MODY). DIABETOLOGIA, 44, A65-A65. Author URL.
Fava S, Azzopardi J, Ellard S, Hattersley AT (2001). ACE gene polymorphism as a prognostic indicator in patients with type 2 diabetes and established renal disease. Diabetes Care, 24(12), 2115-2120. Abstract.  Author URL.
Ferguson SC, Evans JC, Ellard S, Hattersley AT, Deary IJ, Frier BM (2001). Apolipoprotein-E allotype influences cognitive function in type 1 diabetes but not susceptibility to hypoglycemic brain injury. DIABETES, 50, A136-A136. Author URL.
Gloyn AL, Ellard S, Shield JPH, Temple IK, Mackay DJG, Barrett T, Hattersley AT (2001). Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes in European cases of neonatal diabetes. AMERICAN JOURNAL OF HUMAN GENETICS, 69(4), 607-607. Author URL.
Hattersley AT, Spyer G, Shepherd M, MacLeod KM, Ellard S (2001). Defining the role of fetal insulin secretion in fetal and placental growth by the study of diabetic pregnancy in mothers with heterozygous glucokinase mutations. DIABETES, 50, A4-A4. Author URL.
Wickham CL, Sarsfield P, Joyner MV, Jones DB, Ellard S, Wilkins B (2001). Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR products (vol 53, pg 336, 2000). JOURNAL OF CLINICAL PATHOLOGY-MOLECULAR PATHOLOGY, 54(2), 120-120. Author URL.
Kousta E, Ellard S, Allen LI, Saker PJ, Huxtable SJ, Hattersley AT, McCarthy MI (2001). Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes. Diabet Med, 18(8), 683-684. Author URL.
Ellard S, Bingham C, Jones K, Goodship J, Cole T, Van't Hoff W, Woolf A, Nicholls AJ, Hattersley AT (2001). Hepatocyte Nuclear Factor 1-beta (HNF-1 beta): One gene - how many phenotypes?. JOURNAL OF MEDICAL GENETICS, 38, S19-S19. Author URL.
Kolatsi-Joannou M, Bingham C, Ellard S, Bulman MP, Allen LI, Hattersley AT, Woolf AS (2001). Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol, 12(10), 2175-2180. Abstract.  Author URL.
Shield J, Owen K, Robinson DO, Mackay D, Ellard S, Hattersley A, Temple IK (2001). Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus. Diabetologia, 44(7). Author URL.
Kong C, Ellard S, Johnston C, Farid NR (2001). Multiple endocrine neoplasia type 1Burin from Mauritius: a novel MEN1 mutation. J Endocrinol Invest, 24(10), 806-810. Abstract.  Author URL.
CBingham, Bulman MP, Ellard S (2001). Mutations in the hepatocyte nuclear factor-1 beta gene are associated with familial hypoplastic glomerulocystic kidney disease. The American Journal of Human Genetics, 68(1), 219-224.
Bingham C, Bulman MP, Ellard S, Allen LI, Lipkin GW, Hoff WG, Woolf AS, Rizzoni G, Novelli G, Nicholls AJ, et al (2001). Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet, 68(1), 219-224. Abstract.  Author URL.  Full text.
Shepherd M, Ellis I, Ahmad AM, Todd PJ, Bowen-Jones D, Mannion G, Ellard S, Sparkes AC, Hattersley AT (2001). Predictive genetic testing in maturity-onset diabetes of the young (MODY). Diabet Med, 18(5), 417-421. Abstract.  Author URL.
Evans JC, Frayling TM, Cassell PG, Saker PJ, Hitman GA, Walker M, Levy JC, O'Rahilly S, Rao PV, Bennett AJ, et al (2001). Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom. Am J Hum Genet, 69(3), 544-552. Abstract.  Author URL.
Bingham C, Ellard S, Nicholls AJ, Pennock CA, Allen J, James AJ, Satchell SC, Salzmann MB, Hattersley AT (2001). The generalized aminoaciduria seen in patients with hepatocyte nuclear factor-1alpha mutations is a feature of all patients with diabetes and is associated with glucosuria. Diabetes, 50(9), 2047-2052. Abstract.  Author URL.
Pearson ER, Bingham C, Stride A, Clark P, Shepherd M, Ellard S, Hattersley AT (2001). The mutation phenotype reveals a critical and differing role of the Hepatic Nuclear Factor 1 alpha and Hepatic Nuclear Factor 1 beta in embryological development. DIABETOLOGIA, 44, A65-A65. Author URL.
Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, et al (2001). β-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors. Diabetes, 50(SUPPL. 1). Abstract.
Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT, et al (2001). β-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations. Diabetes, 50(SUPPL. 1). Abstract.
Rehal P, Turnpenny P, Ellard S, Stait Y, Macdonald F (2000). A case of a BRCA1 and BRCA2 double heterozygote in a breast-ovarian cancer patient: implications for laboratory screening policies and counselling. JOURNAL OF MEDICAL GENETICS, 37, S38-S38. Author URL.
Ellard S, Beards F, Allen LI, Shepherd M, Ballantyne E, Harvey R, Hattersley AT (2000). A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia, 43(2), 250-253. Abstract.  Author URL.
Tack CJ, Ellard S, Hattersley AT (2000). A severe clinical phenotype results from the co-inheritance of type 2 susceptibility genes and a hepatocyte nuclear factor-1alpha mutation. Diabetes Care, 23(3), 424-425. Author URL.
Bingham C, Ellard S, Allen L, Bulman M, Shepherd M, Frayling T, Berry PJ, Clark PM, Lindner T, Bell GI, et al (2000). Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta. Kidney Int, 57(3), 898-907. Abstract.  Author URL.
Wickham CL, Boyce M, Joyner MV, Sarsfield P, Wilkins BS, Jones DB, Ellard S (2000). Amplification of PCR products in excess of 600 base pairs using DNA extracted from decalcified, paraffin wax embedded bone marrow trephine biopsies. Mol Pathol, 53(1), 19-23. Abstract.  Author URL.  Full text.
Evans JC, Frayling TM, Ellard S, Gutowski NJ (2000). Confirmation of linkage of Duane's syndrome and refinement of the disease locus to an 8.8-cM interval on chromosome 2q31. Hum Genet, 106(6), 636-638. Abstract.  Author URL.
Wickham CL, Joyner MV, Lynas C, Ellard S (2000). Detection of clonal B-cell populations using fluorescently labeled nucleotides. Biotechniques, 29(2), 215-218. Author URL.
Wickham CL, Lynas C, Ellard S (2000). Detection of clonal T cell populations by high resolution PCR using fluorescently labelled nucleotides; evaluation using conventional LIS-SSCP. Mol Pathol, 53(3), 150-154. Abstract.  Author URL.  Full text.
Spyer G, Allen L, Macleod KM, Ellard S, Hattersley AT (2000). Fetal genotype is the primary determinant of fetal growth in gestational diabetes due to a mutation in the maternal glucokinase gene. DIABETES, 49, A4-A4. Author URL.
Wickham CL, Sarsfield P, Joyner MV, Jones DB, Ellard S, Wilkins B (2000). Formic acid decalcification of bone marrow trephines degrades DNA: alternative use of EDTA allows the amplification and sequencing of relatively long PCR products. Mol Pathol, 53(6). Author URL.  Full text.
Spyer G, Ellard S, Hattersley A (2000). Growth-hormone treatment and risk of diabetes. Lancet, 355(9218), 1913-1914. Author URL.
Ellard S (2000). Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young. Hum Mutat, 16(5), 377-385. Abstract.  Author URL.
Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayers S, Shepherd M, Clark P, Millward A, et al (2000). Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest, 106(5). Author URL.
Turnpenny P, Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Hattersley AT, Ellard S (2000). Multiple vertebral segmentation defects in spondylocostal dysostosis are caused by mutations in the human Delta homologue DLL3, a somite boundary gene in the Notch signalling pathway. JOURNAL OF MEDICAL GENETICS, 37, S24-S24. Author URL.
Tumpenny PD, Bulman MP, Kusumi K, Frayling TM, Duncan J, McKeown C, Garrett C, Krumlauf R, Hattersley AT, Ellard S, et al (2000). Mutations in the human Delta homologue, DLL3, a Notch signaling pathway gene, disrupt somite boundary formation in spondylocostal dysostosis, which demonstrates both clinical and genetic heterogeneity. AMERICAN JOURNAL OF HUMAN GENETICS, 67(4), 13-13. Author URL.
Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD, et al (2000). Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet, 24(4), 438-441. Abstract.  Author URL.
Frayling TM, McCarthy MI, Walker M, Levy JC, O'Rahilly S, Hitman GA, Rao PV, Bennett AJ, Jones EC, Menzel S, et al (2000). No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians. J Clin Endocrinol Metab, 85(2), 853-857. Abstract.  Author URL.
de Bono JS, Dalgleish AG, Carmichael J, Diffley J, Lofts FJ, Fyffe D, Ellard S, Gordon RJ, Brindley CJ, Evans TR, et al (2000). Phase I study of ONO-4007, a synthetic analogue of the lipid a moiety of bacterial lipopolysaccharide. Clin Cancer Res, 6(2), 397-405. Abstract.  Author URL.
Ellard S, Bulman MP, Frayling TM, Shepherd M, Hattersley AT (2000). Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG-->CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1 alpha) gene which causes maturity-onset diabetes of the young (MODY). Hum Mutat, 16(3). Abstract.  Author URL.
Bulman MP, Ellard S, Hattersley AT (2000). R127W in HNF4alpha is a loss-of-function mutation causing maturity-onset diabetes of the young (MODY) in a UK Caucasian family. Diabetologia, 43(9). Author URL.
Wild W, Pogge von Strandmann E, Nastos A, Senkel S, Lingott-Frieg A, Bulman M, Bingham C, Ellard S, Hattersley AT, Ryffel GU, et al (2000). The mutated human gene encoding hepatocyte nuclear factor 1beta inhibits kidney formation in developing Xenopus embryos. Proc Natl Acad Sci U S A, 97(9), 4695-4700. Abstract.  Author URL.  Full text.
Frayling TM, Evans JC, Ellard S, Hattersley AT, Consortium SGBDAW2 (2000). Transmission disequilibrium at the calpain10/NIDDM1 gene in UK Caucasian type 2 diabetes parent-offspring trios. DIABETES, 49, A8-A8. Author URL.
Hattersley AT, Bingham C, Shepard M, Allen LI, Berry P, Bulman M, Frayling TM, Ellard S (1999). A frameshift mutation in hepatocyte nuclear factor 1 beta cause diabetes by beta cell dysfunction and renal dysfunction by abnormal nephron development. DIABETES, 48, A33-A33. Author URL.
Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S (1999). A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet, 65(1), 175-182. Abstract.  Author URL.
Garner G, Sheldon C, Ellard S, Turnpenny P (1999). A pro-active approach to mutation testing of the extended family of cystic fibrosis patients. JOURNAL OF MEDICAL GENETICS, 36, S71-S71. Author URL.
Ellard S, Bulman MP, Frayling TM, Allen LI, Dronsfield MJ, Tack CJ, Hattersley AT (1999). Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young. Diabetes, 48(4), 921-923. Author URL.
Frayling TM, Evans JC, Allen LIS, Macfarlane W, Docherty K, Milward A, Demaine A, Wilkin TJ, Ayres S, Clark P, et al (1999). Functional missense mutations in the insulin promoter factor 1 (IPF1) gene predispose to type 2 diabetes. DIABETES, 48, A33-A33. Author URL.
Macfarlane WM, Frayling TM, Ellard S, Evans JC, Allen LI, Bulman MP, Ayres S, Shepherd M, Clark P, Millward A, et al (1999). Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes. J Clin Invest, 104(9), R33-R39. Abstract.  Author URL.  Full text.
Miedzybrodzka Z, Hattersley AT, Ellard S, Pearson D, de Silva D, Harvey R, Haites N (1999). Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing. Eur J Hum Genet, 7(6), 729-732. Abstract.  Author URL.
Frayling TM, Walker M, McCarthy MI, Evans JC, Allen LI, Lynn S, Ayres S, Millauer B, Turner C, Turner RC, et al (1999). Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. Diabetes, 48(12), 2475-2479. Abstract.  Author URL.
Frayling TM, Mccarthy M, Walker M, Evans JC, Allen LIS, Ayres S, Ellard S, Hattersley AT (1999). The collection of Type 2 diabetics with both parents alive to facilitate the identification of susceptibility genes: the BDA Warren 2 Type 2 diabetes Trios. DIABETES, 48, A402-A402. Author URL.
Evans TRJ, Dalgleish AG, Carmichael J, Diffley J, de Bono J, Ellard S, Osterwalder B (1998). A phase I study of ONO-4007 in patients with advanced and/or metastatic cancer. ANNALS OF ONCOLOGY, 9, 84-84. Author URL.
de Bono JS, Propper D, Ellard S, Steiner J, Bevan P, Dobbs N, Flanagan E, Ganesan TS, Talbot DC, Campbell S, et al (1998). A phase I study of XR5000 (DACA) by 120 hour intravenous infusion. ANNALS OF ONCOLOGY, 9, 117-117. Author URL.
Frayling T, Ellard S, Grove J, Walker M, Hattersley AT (1998). C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet, 351(9120), 1933-1934. Author URL.
Matyka KA, Beards F, Appleton M, Ellard S, Hattersley A, Dunger DB (1998). Genetic testing for maturity onset diabetes of the young in childhood hyperglycaemia. Arch Dis Child, 78(6), 552-554. Abstract.  Author URL.
Frayling T, Ellard S, Ayres S, Ayres R, Hattersley AT (1998). Haemochromatosis and type 2 diabetes - Reply. LANCET, 352(9133), 1068-1068. Author URL.
Beards F, Frayling T, Bulman M, Horikawa Y, Allen L, Appleton M, Bell GI, Ellard S, Hattersley AT (1998). Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K. Diabetes, 47(7), 1152-1154. Author URL.
Hattersley AT, Beards F, Ballantyne E, Appleton M, Harvey R, Ellard S (1998). Mutations in the glucokinase gene of the fetus result in reduced birth weight. Nat Genet, 19(3), 268-270. Abstract.  Author URL.
Frayling T, Beards F, Bulman M, Appleton M, Ellard S, Hattersley AT (1998). Mutations in the hepatocyte nuclear factor 1-beta (HNF-1 beta) gene are not a common cause of UK maturity onset diabetes of the young (MODY). DIABETES, 47, A173-A173. Author URL.
Hattersley A, Appleton M, Ellard S, Frayling T, Bulman M, Tack C, Clark P (1998). Phenotypic determinants in hepatocyte nuclear factor 1 alpha (HNf1 alpha) mutations. DIABETES, 47, A179-A179. Author URL.
Bulman MP, Dronsfield MJ, Frayling T, Appleton M, Bain SC, Ellard S, Hattersley AT (1997). A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young. Diabetologia, 40(7), 859-862. Abstract.  Author URL.
Frayling T, Bulman M, Ellard S, Appleton M, Dronsfield MJ, Bain SC, Bell GI, Hattersley AT (1997). A mutational hotspot in the poly-C tract of exon 4 of the hepatic nuclear factor 1alpha gene; Screening in Maturity Onset Diabetes of the Young. DIABETOLOGIA, 40, 18-18. Author URL.
Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S (1997). A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum Genet, 101(3), 351-354. Abstract.  Author URL.
Parry EM, Ballantine JA, Ellard S, Evans WE, Jones C, Kilic N, Lewis RI (1997). Biomonitoring study of a group of workers potentially exposed to traffic fumes. Environ Mol Mutagen, 30(2), 119-130. Abstract.  Author URL.
Appleton M, Ellard S, Bulman M, Frayling T, Page R, Hattersley AT (1997). Clinical characteristics of HNF1 alpha (MODY3) and glucokinase mutations. DIABETOLOGIA, 40, 628-628. Author URL.
Hattersley AT, Appleton M, Smith SM, Burrows JA, Ellard S, Frayling T, Bulman M, Clark PM (1997). Hepatic nuclear factor 1 alpha mutations result in beta-cell dysfunction. DIABETOLOGIA, 40, 634-634. Author URL.
Frayling T, Bulman M, Ellard S, Appleton M, Dronsfield M, Bain S, Hattersley A (1997). Hepatic nuclear factor 1-alpha (HNF-1 alpha) gene mutations are the commonest cause of maturity onset diabetes of the young in the UK. DIABETES, 46, 683-683. Author URL.
Ellard S, Appleton M, Turnpenny PD, Hattersley AT (1997). Identification of a balanced translocation t (3;20) (p21.2;q12) at the chromosomal location (20q12) of the HNF-4 alpha gene in a family with maturity-onset diabetes of the young (MODY). DIABETOLOGIA, 40, 620-620. Author URL.
Ellard S, Bulman MP, Frayling TM, Beards FE, Appleton M, Hattersley AT (1997). Mutation analysis in maturity-onset diabetes of the young (MODY). JOURNAL OF MEDICAL GENETICS, 34, SP15-SP15. Author URL.
Bulman MP, Frayling T, Ellard S, Appleton M, Dronsfield MJ, Bell GI, Bain SC, Hattersley AT (1997). Mutations in the hepatic nuclear factor 1 alpha in maturity-onset diabetes of the young. DIABETOLOGIA, 40, 618-618. Author URL.
Frayling TM, Bulamn MP, Ellard S, Appleton M, Dronsfield MJ, Mackie AD, Baird JD, Kaisaki PJ, Yamagata K, Bell GI, et al (1997). Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K. Diabetes, 46(4), 720-725. Abstract.  Author URL.
Ellard S, Toper S, Stemp G, Parry EM, Wilcox P, Parry JM (1996). A comparison of conventional metaphase analysis of Giemsa-stained chromosomes with multi-colour fluorescence in situ hybridization analysis to detect chromosome aberrations induced by daunomycin. Mutagenesis, 11(6), 537-546. Abstract.  Author URL.
Doherty AT, Ellard S, Parry EM, Parry JM (1996). An investigation into the activation and deactivation of chlorinated hydrocarbons to genotoxins in metabolically competent human cells. Mutagenesis, 11(3), 247-274. Abstract.  Author URL.
Parry JM, Parry EM, Bourner R, Doherty A, Ellard S, O'Donovan J, Hoebee B, de Stoppelaar JM, Mohn GR, Onfelt A, et al (1996). The detection and evaluation of aneugenic chemicals. Mutat Res, 353(1-2), 11-46. Abstract.  Author URL.
Ellard S, James SA, Parry EM, Parry JM (1995). A genetically engineered V79 cell line SD1 expressing rat CYP2B1 exhibits chromosomal instability at the integration site of the transfected DNA. Mutagenesis, 10(6), 549-554. Abstract.  Author URL.
Ellard S, Parry EM, Parry JM (1995). Use of multicolour chromosome painting to identify chromosomal rearrangements in human lymphocytes exposed to bleomycin: a comparison with conventional cytogenetic analysis of Giemsa-stained chromosomes. Environ Mol Mutagen, 26(1), 44-54. Abstract.  Author URL.
Ellard S, Parry EM (1993). A modified protocol for the cytochalasin B in vitro micronucleus assay using whole human blood or separated lymphocyte cultures. Mutagenesis, 8(4), 317-320. Abstract.  Author URL.
Jones NJ, Ellard S, Waters R, Parry EM (1993). Cellular and chromosomal hypersensitivity to DNA crosslinking agents and topoisomerase inhibitors in the radiosensitive Chinese hamster irs mutants: phenotypic similarities to ataxia telangiectasia and Fanconi's anaemia cells. Carcinogenesis, 14(12), 2487-2494. Abstract.  Author URL.
Ellard S, Parry EM (1993). Induction of micronuclei in V79 Chinese hamster cells by hydroquinone and econazole nitrate. Mutat Res, 287(1), 87-91. Abstract.  Author URL.
Crofton-Sleigh C, Doherty A, Ellard S, Parry EM, Venitt S (1993). Micronucleus assays using cytochalasin-blocked MCL-5 cells, a proprietary human cell line expressing five human cytochromes P-450 and microsomal epoxide hydrolase. Mutagenesis, 8(4), 363-372. Abstract.  Author URL.
ELLARD S, PARRY EM, PARRY JM (1993). THE INDUCTION AND ANALYSIS OF MICRONUCLEI IN MAMMALIAN-CELL CULTURES AND HUMAN PERIPHERAL LYMPHOCYTES. MUTATION RESEARCH, 291(3), 231-232. Author URL.
Black SM, Ellard S, Parry JM, Wolf CR (1992). Increased sterigmatocystin-induced mutation frequency in Saccharomyces cerevisiae expressing cytochrome P450 CYP2B1. Biochem Pharmacol, 43(2), 374-376. Author URL.
Ellard S, Mohammed Y, Dogra S, Wölfel C, Doehmer J, Parry JM (1991). The use of genetically engineered V79 Chinese hamster cultures expressing rat liver CYP1A1, 1A2 and 2B1 cDNAs in micronucleus assays. Mutagenesis, 6(6), 461-470. Abstract.  Author URL.
Black SM, Ellard S, Meehan RR, Parry JM, Adesnik M, Beggs JD, Wolf CR (1989). The expression of cytochrome P450IIB1 in Saccharomyces cerevisiae results in an increased mutation frequency when exposed to cyclophosphamide. Carcinogenesis, 10(11), 2139-2143. Abstract.  Author URL.

Chapters

Njølstad TS, Ellard S, Njølstad PR (2016). Insights from monogenic diabetes. In  (Ed) The Genetics of Type 2 Diabetes and Related Traits: Biology, Physiology and Translation, 223-240.  Abstract.
Flanagan SE, Ellard S (2008). Identification of mutations in the Kir6.2 subunit of the K(ATP) channel. In  (Ed) , 235-245.  Abstract.  Author URL.

Conferences

Hatipoglu N, Demirbilek H, Gul U, Tatli ZU, Flanagan S, Ellard S, De Franco E, Kurtoglu S (2016). A Syndrome of Permanent Neonatal Diabetes Mellitus and Neurological Abnormalities due to a Novel Homozygous Missense c.449T > a (p.I150N) Mutation in NEUROD1 Gene.  Author URL.
Nagesh VS, Hattersley A, Ellard S, De Franco E, Flanagan S, Naseem A, Ahmed A, Ahmed T, Venkateswarlu K (2016). A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis.  Author URL.
Patel KA, Oram RA, Mcdonald TJ, Hudson M, Colclough K, Ellard S, Weedon MN, Pearson EZ, Hattersley AT (2016). Classifying the unclassified using Type 1 diabetes genetic risk score: patients with young onset diabetes who are islet autoantibody negative and have preserved c-peptide.  Author URL.
Abali ZY, Bundak R, Bas F, De Franco E, Genens M, Poyrazoglu S, Ellard S, Hattersley A, Darendeliler F (2016). Clinical Characteristics and Molecular Analysis of Patients with Neonatal Diabetes.  Author URL.
Yildiz M, Akcay T, Mutlu N, Akgun A, Onal H, Ulucan K, Ellard S, Flanagan SE (2016). Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: a Single-Center Experience.  Author URL.
Walton-Betancourth S, Shah P, Flanagan S, Ellard S, Guemes M, Gilbert C, Silvera S, Hussain K (2016). Congenital Hyperinsulinism Due to Compound Heterozygous Mutation in ABCC8 and KCNJ11 GENES: 20 Years Experience of a National Referral Centre.  Author URL.
Vu D, Dang AD, Bui PT, can TBN, Nguyen NK, Nguyen PD, Tran MD, Flanagan SE, Ellard S (2016). Genotype and Phenotype of 99 Vietnamese Patients with Congenital Hyperinsulinism.  Author URL.
Bich NCT, Chi DV, Phuong TB, Ngoc KN, Thanh MDT, Johnson M, De Franco E, Ellard S (2016). IPEX Syndrome Caused by a Novel Mutation in Foxp3 Gene: a Case Report.  Author URL.
Mendoza C, Garfias C, Seiltgens C, Silva R, Hodgson I, Ugarte F, Flanagan S, Ellard S, Garcia H (2016). Neonatal Diabetes and Congenital Hypothyroidism, a Rare Condition: Report of 2 Cases with Different Genetic Causes.  Author URL.
Globa E, Zelinska N, Temple K, Mackay D, Hattersley A, Flanagan S, Ellard S (2016). Neonatal Diabetes in Ukraine.  Author URL.
Siklar Z, De Franco E, FlanagaN S, Ellard S, Ceylaner S, Boztug K, Dogu F, Ikinciogullari A, Kuloglu Z, Kansu A, et al (2016). Non-Mody Monogenic Diabetes: a Very Heterogenous and Problematic Group of Diabetes.  Author URL.
Braha N, De Franco E, Dawes A, Sharples K, Moodambail A, Hughes C, Ellard S, Gevers E (2016). Permanent Neonatal Diabetes Mellitus due to a Novel Homozygous GCK Mutation in a Premature Baby with IUGR and its Management.  Author URL.
Patel KA, Laver T, Johnson M, Sanders T, Shepherd M, Ellard S, Flanagan S, Hattersley AT, Weedon MN (2016). RFX6 is a new MODY gene.  Author URL.
Elkaffas R, Musa N, De Franco E, Madani HA, Shaalan Y, El-Kaffas RMH, Hassan M, Hafez M, El Kholi B, Flanagan SE, et al (2016). The Genetic Causes and Phenotypic Characteristics of Egyptian Patients with Neonatal Diabetes Mellitus.  Author URL.
Bas S, Akbarzade A, Atay Z, Gurbanov Z, Guran T, Turan S, De Franco E, Ellard S, Bereket A (2016). Thiamine Responsive Megaloblastic Anemia Due to SLCA19A2 Gene Mutation: Another Cause of Neonatal Diabetes with Succcesfull Switch from Insulin to Thiamine.  Author URL.
Bich NCT, Chi DV, Phuong TB, Ngoc KN, Docherty L, Edwards S, Mackay D, Temple K, Ellard S (2016). Transient Neonatal Diabetes Mellitus in Hanoi, Vietnam: Clinical Feature and Outcome.  Author URL.
Iacovazzo D, Piacentini S, Lugli F, Bianchi A, Gabrovska P, Persiani R, Rindi G, Ellard S, Korbonits M, De Marinis L, et al (2015). A Novel MEN1 Gene Variant in a Sporadic Case of Multiple Endocrine Neoplasia Type 1.  Author URL.
Clissold RL, Ellard S, Hattersley AT, Bingham C (2015). HNF1B WHOLE-GENE DELETIONS ARE ASSOCIATED WITH AUTISTIC TRAITS.  Author URL.
Babiker T, Patel KA, Chakera AJ, Houghton J, Shepherd MH, Ellard S, Hattersley AT (2015). Predicting successful transfer to sulphonylureas in neonatal diabetes caused by KCNJ11 mutations.  Author URL.
Patel KA, Weedon MN, Ellard S, Hattersley AT, Oram RA (2015). Type 1 diabetes genetic risk score: a novel tool to differentiate monogenic diabetes from Type 1 diabetes.  Author URL.
Flanagan SE, Haapaniemi E, Russell MA, McDonald TJ, Barton J, Murphy NP, Seppanen M, Milenkovic T, Heiskanen K, Lernmark A, et al (2014). A novel syndrome of early-onset type 1 diabetes and multi-organ autoimmunity caused by activating germline mutations in STAT3.  Author URL.
Shields BM, Hudson M, Shepherd M, Oram R, McDonald TJ, Ellard S, Pearson ER, Hattersley AT, Team UNITED (2014). Comparison of screening using clinical criteria and biomarkers to identify maturity-onset diabetes of the young (MODY) in a community based setting.  Author URL.
Salvatori R, Gabrovska P, Weber A, Quinton R, Crowne EC, Corazzini V, Radian S, Sinha K, Lecoq A-L, Chanson P, et al (2014). Founder Effect in Recurring AIP Mutation Causing Familial Isolated Pituitary Adenoma Syndrome.  Author URL.
Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT (2014). MODY is uncommonly diagnosed in non-white ethnic groups as a result of difficulty in differentiating young-onset Type 2 diabetes from MODY.  Author URL.
Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT (2014). MODY is uncommonly diagnosed in the South Asian ethnic group as a result of difficulty in differentiating young-onset type 2 diabetes from MODY.  Author URL.
Radian S, Gabrovska P, Holland B, Wallace H, Ryan AW, McGurren K, Stals K, Bussell A-M, Thomas MG, Holland A, et al (2014). Population Screening for the Irish Founder AIP Mutation R304*Reveals a Prevalence of 1/500 in the Local Population, While High Mutation Frequency is Present Among Irish Familial and Sporadic Somatotropinoma Patients.  Author URL.
Senniappan S, Tatevian N, Alexandrescu S, Shah P, Arya VB, Flanagan S, Ellard S, Rampling D, Ashworth M, Brown R, et al (2014). The Activation of Mtor Pathway As Revealed By Gene Expression Profiling and the Role of Mtor Inhibitors in Congenital Hyperinsulinism.  Author URL.
Senniappan S, Tatevian N, Alexandrescu S, Shah P, Arya VB, Flanagan S, Ellard S, Rampling D, Ashworth M, Brown R, et al (2014). The Activation of Mtor Pathway As Revealed By Gene Expression Profiling and the Role of Mtor Inhibitors in Congenital Hyperinsulinism.  Author URL.
Hudson MM, Shepherd M, Oram RA, McDonald TJ, Ellard S, Shields BM, Hattersley AT, Team UR (2013). A population-based approach to genetic testing defines the prevalence of maturity onset diabetes of the young (MODY) in patients with diabetes diagnosed under 30 years as 3%.  Author URL.
Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT (2013). Low prevalence of diabetes complications after 48 years of mild hyperglycaemia in patients with glucokinase mutations supports current glycaemic targets for diabetes managmenet.  Author URL.
Hammersley S, Oram R, Shepherd M, Moudiotis C, Fraser B, Mallam K, Cox J, Smith B, McDonald TJ, Besser REJ, et al (2013). Prevalence of non-Type 1 diabetes in paediatric diabetes.  Author URL.
Shields BM, Ellard S, Hattersley AT (2013). Rationalising maturity-onset diabetes of the young (MODY) diagnostic testing in the molecular genetics laboratory: a probability model to define subgroups.  Author URL.
Kavvoura FK, Raimondo A, Thanabalasingham G, Barrett A, Webster AL, Mann N, Ellard S, Gloyn AL, Owen KR (2013). Reclassification of diabetes aetiology in a family with multiple diabetes phenotypes.  Author URL.
Shepherd M, Shields BM, Pearson ER, Oram R, Ellard S, Hattersley AT, Team UNITEDR (2013). The first prospective study of treatment change in transcription factor maturity onset diabetes of the young (MODY): impact on glycaemic control and quality of life.  Author URL.
Sanders T, Oram RA, Shepherd M, Pearson ER, MacDonald TJ, Ellard S, Shields BM, Hattersley AT, Team UNITEDR (2013). Time to reconsider? Reassessment of diagnosis in long duration Type 1 diabetes with urinary C-peptide creatinine ratio and antibodies identifies people with alternate diagnoses.  Author URL.
Sansbury F, Caswell R, Allen HL, Flanagan SE, Kirel B, Ellard S, Hattersley AT (2012). Biallelic RFX6 inactivation can cause intestinal atresia with childhood rather than neonatal onset diabetes.  Author URL.
Tysoe C, Sloman M, Kivuva E, Shaw-Smith C, Tumer C, Ellard S (2012). Comprehensive FGD1 mutation screening service for Aarskog-Scott syndrome - now available in the UK.  Author URL.
Shields BM, McDonald TJ, Owen KR, Malecki MT, Besser REJ, Jones AG, Ellard S, Hattersley AT (2012). Integration of biomarkers and clinical characteristics provides the best method for identifying patients with MODY.  Author URL.
Ellard S, Caswell R, Turnpenny PD, Turner C, Wragg C, Xie W, Weedon M, Xu X, Allen HL (2012). Whole genome sequencing and copy number analysis of exome sequencing in two families with split-hand/split-foot malformation identifies chromosomal rearrangements affecting putative exonic enhancers.  Author URL.
Ellard S, Weedon MN, Caswell R, Hastings R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, et al (2011). Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant Charcot-Marie-Tooth disease.  Author URL.
Houghton J, Damhuis A, Caswell R, Flanagan S, Crolla J, Shaw-Smith C, Ellard S (2011). GLIS3 gene mutations in patients with syndromic neonatal diabetes.  Author URL.
Sansbury FH, Flanagan SE, Houghton JAL, Young E, Shen FLS, Al-Sinani S, Kariminejad A, Habeb AM, Abdullah MA, Ellard S, et al (2011). New insights into genetic causes of neonatal diabetes mellitus: SLC2A2 mutations can cause neonatal diabetes prior to the appearance of Fanconi-Bickel syndrome.  Author URL.
Gutowski NJ, Young E, Sabah M, Fryer A, Ellard S (2011). Phenotype in E410 K beta-tubulin isotype 3 mutations: ocular and extraocular manifestations.  Author URL.
Gutowski NJ, Young E, Sabah M, Fryer A, Ellard S (2011). Phenotype in E410K beta-tubulin isotype 3 mutations: striking facial weakness and other extraocular manifestations in addition to CFEOM.  Author URL.
Ellard S (2011). Scientific introduction to next generation sequencing.  Author URL.
Shields BM, McDonald TJ, Ellard S, Hyde C, Campbell M, Hattersley AT (2011). Should I test this patient for maturity onset diabetes of the young? a clinical prediction model to determine the probability of MODY.  Author URL.
Besser REJ, Shepherd MH, McDonald TJ, Shields BM, Knight BA, Hammersley S, Ellard S, Hattersley AT (2011). Urinary C-peptide creatinine ratio is a practical outpatient tool in identifying MODY from type 1 diabetes in children with diabetes.  Author URL.
Thanabalasingham G, Pal A, Farmer AJ, Ellard S, McCarthy MI, Owen KR (2010). Extending criteria for genetic testing increases diagnosis of maturity-onset diabetes of the young.  Author URL.
Beer NL, Tribble ND, Colclough K, Arundel P, Grimsby J, Chik C, Ellard S, Gloyn AL (2010). Naturally occurring glucokinase mutations at the same amino acid residue cause opposite clinical phenotypes of hypo- and hyperglycaemia.  Author URL.
Vasanwala RF, Yap FKP, Lim SH, Siew JX, Ellard S (2010). Outcome of a 2-Year Search for Neonatal Diabetes in Singapore.  Author URL.
Besser REJ, Shepherd MH, McDonald TJ, Shields BM, Colclough KJ, Githens-Mazer G, Wensley KJ, Knight BA, Ellard S, Hattersley AT, et al (2010). Postal Urinary C-Peptide Creatinine Ratio Discriminates Long Duration Type 1 Diabetes from HNF1A MODY.  Author URL.
Minton JAL, Rubio-Cabezas O, Patch A-M, Flanagan SF, Edghill E, Hussain K, Hattersley AT, Ellard S (2009). Homozygosity mapping as a novel tool to identify patients with Wolcott-Rallison syndrome among infants with permanent neonatal diabetes.  Author URL.
Frayling TM, Khamis A, Edghill EL, Weedon MN, Walker M, Hitman G, McCarthy MI, Owen K, Hattersley AT, Ellard S, et al (2009). Medical Sequencing of the Insulin Promoter Factor 1 Gene in Type 2 Diabetes.  Author URL.
Ellard S, Allen HL, Johansson S, Hertel JK, Shields B, Raeder H, Colclough K, Molven A, Frayling TM, Njolstad PR, et al (2009). Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.  Author URL.
Cunningham V, Parsons A, Ellard S, Hofman P, Cundy T (2009). Skeletal phenotype in mandibulo-acral dysplasia associated with ZMPSTE24 mutations and the effects of bisphosphonate treatment.  Author URL.
Ellard S, Edghill EL, Locke J, Flanagan SE, Patch AM, Harries LW, Hattersley AT (2008). Both recessive and dominant INS gene mutations are a common cause of neonatal diabetes.  Author URL.
Rankin J, Allwood A, Gutowski N, Ellard S (2008). Hyperacusis in a patient with congenital fibrosis of the extraocular muscles type 1; a new feature?.  Author URL.
Gasperikova D, Tribble ND, Stanik J, Huckova M, Misovicova N, van de Bunt M, Kuklisova L, Barrow B, Barak L, Dobransky R, et al (2008). Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity.  Author URL.
Tribble ND, Gasperikova D, Stanik J, Van De Bunt M, Misovicova N, Huckova M, Dobransky R, Barak L, Barrow B, Bereczkova E, et al (2008). Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G > C) which reduces promoter activity.  Author URL.
Craig TJ, Shimomura K, Flanagan S, Ellard S, Hattersley A, Ashcroft FM (2008). Permanent neonatal diabetes caused by an in-frame deletion in the N-terminus of Kir6.2.  Author URL.
Edghill EL, Locke J, Flanagan SE, Patch A-M, Harries LW, Ellard S, Hattersley AT (2008). Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees.  Author URL.
Roccasecca RM, Thompson A, Stals K, Bottomley W, Cordina C, Ellard S, Hattersley A, Barroso I (2008). Searching for MODY-X.  Author URL.
Klupa T, Kowalska I, Wyka K, Patch A-M, Skupien J, Noczynska A, Ellard S, Hattersley A, Sieradzki J, Mlynarski W, et al (2008). Variable clinical picture of mutations in the ABCC8 gene: can it be modified by the sensitivity to insulin or the islet-specific antibodies?.  Author URL.
Lindgren CM, Barrow B, Hammersley D, Shepherd M, Elliott K, Rayner NW, Ellard S, Gloyn AL (2007). A genome wide scan for linkage in families with early onset maturity-onset diabetes of the young suggests a potential role for genes on chromosomes 2p 3q, 4q and 10q in glucose homeostasis.  Author URL.
Hanlon K, Harries LW, Ellard S, Rudin CE (2007). A novel application of digital single nucleotide polymorphism (dSNP) technology to the identification of chromosome 13q deletions in multiple myeloma and chronic lymphocytic leukaemia.  Author URL.
Steele AM, Shields BM, Pearson ER, Shepherd M, Ellard S, Hattersley AT (2007). Birthweight is a useful predictor for molecular genetic testing in MODY.  Author URL.
Harries LW, Shields B, Ellard S, Hattersley AT (2007). Expression profiling and genotype: phenotype analysis of naturally occurring HNF4A mutations suggest a role for fetally expressed P1 transcripts in normal beta-cell function.  Author URL.
Carey OJG, Shields B, Colclough K, Ellard S, Hattersley AT (2007). Finding a glucokinase mutation alters treatment.  Author URL.
Tarasov AI, Girard CA, Larkin B, Tammaro P, Flanagan SE, Ellard S, Ashcroft FM (2007). Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.  Abstract.  Author URL.
Suliman SGI, Stanik J, Misovicova N, Gasperikova D, Wilson N, Edghill E, Sandrikova V, Elliot K, Barak L, Ellard S, et al (2007). Insulin resistance and intrauterine growth retardation due to a novel balanced translocation (46,t(7;19)(p15.2;p13.2)) which disrupts the insulin receptor (INSR) gene.  Author URL.
Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S (2007). Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.  Abstract.  Author URL.
Slingerland AS, Flanagan SE, Shields B, Patch A-M, Bruining GJ, Noordam K, Cinek O, Malecki M, Gach A, Mlynarski W, et al (2007). Prevalence and incidence of neonatal diabetes in children and adults in the largest international series: increased interest, extended definition, continued misclassification?.  Author URL.
Gloyn AL, van de Bunt M, Stratton I, Tucker L, Lonie L, Ellard S, Holman RR (2007). Prevalence of glucokinase (GCK) mutations in people with elevated fasting glucose levels: implications for clinical trials.  Author URL.
Klupa T, Gach A, Patch A-M, Skupien J, Pietrzak I, Ellard S, Hattersley A, Mlynarski W, Malecki MT, Sieradzki J, et al (2007). The prevalence estimation of PNDM in Poland: the relative contribution of mutations in KCNJ11 and ABCC8 genes.  Author URL.
Mieszczak J, Sanchez J, Haddad N, Flanagan S, Ellard S, Dimeglio LA (2007). Transitioning from insulin to glyburide in a patient with a novel, de novo SUR1 mutation.  Author URL.
Gilliam LK, Pihoker C, Ellard S, Snively BM, Dabelea D, Davis C, Dolan L, Imperatore G, Lawrence JM, Mayer-Davis EJ, et al (2007). Unrecognized maturity-onset diabetes of the young (MODY) due to HNF1 alpha mutations in the SEARCH for diabetes in youth study.  Author URL.
Pearson ER, Steele AM, Barrett TG, Stals K, Shield JP, Ellard S, Hattersley AT (2006). A novel cause of hyperinsulinemic hypoglycemia and increased birth weight is seen in patients with HNF-4 alpha but not HNF-1 alpha mutations.  Author URL.
Wolstencroft E, Hanlon K, Harries L, Sternberg A, Ellard S (2006). Development of a quantitative real-time PCR assay for the detection of the JAK2 V617F mutation in myeloproliferative disorders.  Author URL.
Singh R, Cundy T, Baptista J, Crolla J, Ellard S, Hattersley AT (2006). Diabetes, very low birthweight and short stature resulting from disruption of paternally-derived IGF2 region 11p15.5.  Author URL.
Owens M, Edghill EL, Harries LW, Bingham C, Oram R, Hattersley AT, Ellard S (2006). Hepatocyte nuclear factor-1beta gene deletions are common in subjects with unexplained renal disease and diabetes.  Author URL.
Stanik J, Gasperikova D, Barak L, Paskova M, Javorkova J, Ciljakova M, Hlava P, Flanagan S, Michalek J, Ellard S, et al (2006). Permanent neonatal diabetes could be much more frequent than estimated: Slovak incidence and successful transfer to sulphonylureas.  Author URL.
Ellard S (2006). Treating monogenic diabetes according to genotype.  Author URL.
Sloman M, Harries L, Ellard S (2005). A real-time PCR two-step reflex test for the detection of HFE gene mutations causing haemochromatosis.  Author URL.
Robinson A, Ellard S, Speers C, Turbin D, Yorida E, Rajput A, Thomson T, Huntsman D, Gelmon K (2005). Clinical and molecular predictors of sustained response to trastuzumab in metastatic breast cancer.  Author URL.
Ellard S, Hattersley AT (2005). Defining the genetic aetiology of diabetes can improve treatment.  Author URL.
Pearson ER, Flechtner I, Ellard S, Robert JJ, Clark PM, Hamilton-Shield JP, Polak M, Hattersley AT (2005). Insulin independence with sulphonylurea treatment in a series of patients with permanent neonatal diabetes due to heterozygous activating mutations in the KCNJ11 (Kir6.2) gene.  Author URL.
Ellard S, Shepherd M, Hattersley AT (2005). Integrating genetics into diabetes care; evaluation of the MODY link nurse project after 20 months.  Author URL.
Klupa T, Flanagan S, Nazim J, Ellard S, Ciechanowska M, Starzyk J, Sieradzki J, Hattersley AT, Malecki MT (2005). Kir6.2 mutations search in patients with permanent neonatal diabetes from a Polish population.  Author URL.
Edghill EL, Ellard S, Nordam C, Slingerland A, Hattersley AT (2005). Mutations in the hepatocyte nuclear factor-1beta gene cause neonatal diabetes and intra-uterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development.  Author URL.
Dark GG, Calvert AH, Grimshaw R, Poole C, Swenerton K, Kaye S, Coleman R, Jayson G, Le T, Ellard S, et al (2005). Randomized trial of two intravenous schedules of the topoisomerase I inhibitor liposomal lurtotecan in women with relapsed epithelial ovarian cancer: a trial of the national cancer institute of Canada clinical trials group.  Abstract.  Author URL.
McArthur HK, Olivotto I, Gelmon KA, Speers CH, Chia S, Ellard S, Kennecke HF (2005). Risk of early relapse in post-menopausal women with early stage, estrogen receptor positive (ER+) breast cancer on tamoxifen.  Author URL.
Ellard S, Gloyn AL, Edghill EL, Pearson ER, Mackay D, Temple IK, Shield J, Noyes K, Gillespie KM, Lambert AP, et al (2004). Activating mutations in the KCNJ11 gene encoding the ATP-sensitive potassium channel subunit Kir6.2 are associated with a spectrum of early-onset syndromic and non-syndromic diabetes.  Author URL.
Ellard S, Shepherd MH, Hattersley AT (2004). An educational model for the integration of genetics into diabetes care.  Author URL.
Harries LW, Wickham CL, Rule SA, Joyner MV, Ellard S (2004). Improved quantitation of haematopoietic chimaerism by real-time polymerase chain reaction.  Author URL.
Wickham CL, Harries LW, Sarsfield P, Joyner MV, Ellard S (2004). Improving the accuracy of detection of t(11;14)(q13;q32) and t(14;18)(q32;q21) chromosomal translocations by PCR.  Author URL.
Gloyn AL, Odili S, Zelent D, Buettger C, Castledon HAJ, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, et al (2004). Maturity-onset diabetes of the young (MODY) caused by a glueoldnase mutation (V62M) which results in defective regulation ofthe enzyme.  Author URL.
Gloyn AL, Edghill EL, Pearson ER, Mackay DJG, Temple IK, Shield JPH, Noyes K, Freedenberg D, Gillespie KM, Lambert AP, et al (2004). Multiple subtypes of diabetes are associated with activating mutations in KCNJ11, which encodes the Kir6.2 sub-unit of the beta-cell ATP sensitive potassium (K-ATP) channel.  Author URL.
Pearson ER, Badman MK, Lockwood CR, Clark PM, Ellard S, Bingham C, Hattersley AT (2004). The contrasting diabetes phenotypes of MODY5 (HNF-1beta) and MODY3 (HNF-1alpha).  Author URL.
Gloyn A, Noordam L, Willemsen M, Ellard S, Lam W, Shiota C, Magnuson M, Matschinsky F, Hattersley A (2003). Insights into biochemical and genetical basis of glucokinase activation from naturally occuring hypoglycaemia mutations.  Author URL.
Turnpenny RD, Duncan J, Ellard S (2002). A classification of disorders with abnormal vertebral segmentation.  Author URL.
Ragaz J, Spinelli J, Speers C, Hayes M, Gelmon K, Bryce C, Shenkier T, Chia S, Weir L, Lee C, et al (2002). Adverse impact of lymphangitic and vascular invasion (LVI) in early breast cancer: results from the British Columbia (BC) breast cancer outcome unit.  Author URL.
Whittock NV, Duncan J, Ellard S, Turnpenny PD (2002). Pseudo-dominant inheritance of spondylocostal dysostosis caused by two familial Delta-like 3 mutations.  Author URL.
Frayling T, Thomson K, Colclough K, Ellard S, Hettersley AT (2002). Reduced haplotype diversity at the gene encoding Hepatocyte Nuclear Factor 1 alpha.  Author URL.
Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, et al (2001). beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.  Abstract.  Author URL.
Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Froguel P, Hattersley AT, et al (2001). beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations.  Abstract.  Author URL.
Hattersley AT, Ellard S, Shepherd M, Frayling TM, Bulman M, Ballantyne L, Ayres S (2000). Phenotype-genotype relationships in maturity-onset diabetes of the young.  Author URL.
Doherty AT, Ellard S, Parry EM, Parry JM (1996). A study of the aneugenic activity of trichlorfon detected by centromere-specific probes in human lymphoblastoid cell lines.  Abstract.  Author URL.
Ellard S, Parry JM (1993). A comparative study of the use of primary Chinese hamster liver cultures and genetically engineered immortal V79 Chinese hamster cell lines expressing rat liver CYP1A1, 1A2 and 2B1 cDNAs in micronucleus assays.  Abstract.  Author URL.

Publications by year


In Press

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.
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.
Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, et al (In Press). Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Orphanet J Rare Dis, 11(1). Abstract.  Author URL.
Turnpenny PD, Ellard S (In Press). Emery's Elements of Medical Genetics - 13th Edition., Elsevier.
Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N (In Press). Erratum to: Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. Indian J Pediatr, 83(11). Author URL.
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.

2017

Parrish A, Caswell R, Jones G, Watson CM, Crinnion LA, Ellard S (2017). An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepth. Wellcome Open Research, 2, 49-49.
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.
Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ (2017). Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol, 12(1). Abstract.  Author URL.
Radian S, Diekmann Y, Gabrovska P, Holland B, Bradley L, Wallace H, Stals K, Bussell A-M, McGurren K, Cuesta M, et al (2017). Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Hum Mutat, 38(1), 78-85. Abstract.  Author URL.
Lotta LA, Gulati P, Day FR, Payne F, Ongen H, van de Bunt M, Gaulton KJ, Eicher JD, Sharp SJ, Luan J, et al