Publications

Exeter-based authors are highlighted in bold.

Johnson MB, Patel KA, De Franco E, Houghton JAL, McDonald TJ, Ellard S, Flanagan SE, Hattersley AT. A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes. Diabetologia. 2018 Feb 7. [Epub ahead of print] (PMID: 29417186)

Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, Hattersley A, Ellard S, Mula-Abed WA. Genetic mutations associated with neonatal diabetes mellitus in Omani patients. J Pediatr Endocrinol Metab. 2018 Jan 26;31(2):195-204. (PMID: 29329106)

D Iacovazzo, SE Flanagan, E Walker, R Quezado, F Antonio de Sousa Barros, R Caswell, MB Johnson, M Wakeling, M Brändle, M Guo, MN Dang, P Gabrovska, B Niederle, E Christ, S Jenni, B Sipos, M Nieser, A Frilling, K Dhatariya, P Chanson, WW de Herder, B Konukiewitz, G Klöppel, R Stein, M Korbonits, and S Ellard.
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus Proc Natl Acad Sci USA. 2018 Jan 30;115(5):1027-1032. Epub 2018 Jan 16. (
PMID: 29339498)

Yildiz M, Akcay T, Aydin B, Akgun A, Dogan BB, De Franco E, Ellard S, Onal H. Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation. J Pediatr Endocrinol Metab. 2018 Jan 6.  [Epub ahead of print] (PMID: 29305569)

JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, A Hoischen, BWM van Bon, A Gezdirici, EY Gulec, F Ramond, R Touraine, J Thevenon, M Shinawi, E Beaver, J Heeley, J Hoover-Fong, CD Durmaz, HG Karabulut, E Marzioglu-Ozdemir, A Cayir, MB Duz, M Seven, S Price, BM Ferreira, AM Vianna-Morgante, S Ellard, A Parrish, K Stals, J Flores-Daboub, SN Jhangiani, RA Gibbs; Baylor-Hopkins Center for Mendelian Genomics, HG Brunner, VR Sutton, JR Lupski, CMB Carvalho. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2017 Dec 16.  [Epub ahead of print] (PMID: 29276006)

KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, G Jones, AC Gunning, H Lango Allen, L Bradley, AF Brady, H Carley, J Carmichael, B Castle, D Cilliers, H Cox, C Deshpande, A Dixit, J Eason, F Elmslie, AE Fry, A Fryer, M Holder, T Homfray, E Kivuva, V McKay, R Newbury-Ecob, M Parker, R Savarirayan, C Searle, N Shannon, D Shears, S Smithson, E Thomas, PD Turnpenny, V Varghese, P Vasudevan, E Wakeling, EL Baple, S EllardDiagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenat Diagn. 2017 Nov 2. [Epub ahead of print](PMID: 29096039)

 

R Salvatori, S Radian, Y Diekmann, D Iacovazzo, A David, P Gabrovska, G Grassi, AM Bussell, K Stals, A Weber, R Quinton, EC Crowne, V Corazzini, L Metherell, T Kearney, D Du Plessis, AK Sinha, A Baborie, AL Lecoq, P Chanson, O Ansorge, S Ellard, PJ Trainer, D Balding, MG Thomas, M Korbonits. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. Eur J Endocrinol. 2017 Sep;177(3):257-266. Epub 2017 Jun 20. (PMID: 28634279)

S Radian, Y Diekmann, P Gabrovska, B Holland, L Bradley, H Wallace, K Stals, AM Bussell, K McGurren, M Cuesta, AW Ryan, M Herincs, LC Hernández-Ramírez, A Holland, J Samuels, ED Aflorei, S Barry, J Dénes, I Pernicova, CE Stiles, G Trivellin, R McCloskey, M Ajzensztejn, N Abid, SA Akker, M Mercado, M Cohen, RV Thakker, S Baldeweg, A Barkan, M Musat, M Levy, SM Orme, M Unterländer, J Burger, AV Kumar, S Ellard, J McPartlin, R McManus, GJ Linden, B Atkinson, DJ Balding, A Agha, CJ Thompson, SJ Hunter, MG Thomas, PJ Morrison, M Korbonits. Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Hum Mutat. 2017 Jan;38(1):78-85. Epub 2016 Oct 4. (PMID: 27650164)

C Ramírez-Rentería, LC Hernández-Ramírez, L Portocarrero-Ortiz, G Vargas, V Melgar, E Espinosa, AL Espinosa-de-Los-Monteros, E Sosa, B González, S Zúñiga, M Unterländer, J Burger, K Stals, AM Bussell, S Ellard, M Dang, D Iacovazzo, S Kapur, P Gabrovska, S Radian, F Roncaroli, M Korbonits, M Mercado. AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. Endocrine. 2016 Aug;53(2):402-11. Epub 2016 Mar 31. (PMID: 27033541)

TW Laver, RC Caswell, KA Moore, J Poschmann, MB Johnson, MM Owens, S Ellard, KH Paszkiewicz, MN WeedonPitfalls of haplotype phasing from amplicon-based long-read sequencing. Sci Rep. 2016 Feb 17;6:21746. (PMID: 26883533)

A Güven, AN Cebeci, S Ellard, SE Flanagan. Clinical, genetic characteristics, management and long-term follow up of Turkish patients with congenital hyperinsulinism. J Clin Res Pediatr Endocrinol. 2016 Jun 5;8(2):197-204. Epub 2015 Dec 18. (PMID: 26758964)

Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, Kansu A, Berberoğlu M. Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes. 2017 Nov 28 [Epub ahead of print] (PMID: 29183106)

Haliloğlu B, Tüzün H, Flanagan SE, Çelik M, Kaya A, Ellard S, Özbek MN. Sirolimus-Induced Hepatitis in Two Cases with Hyperinsulinemic Hypoglycemia. J Clin Res Pediatr Endocrinol. 2017 Dec 8 [Epub ahead of print] (PMID: 29217498)

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun. 2017 Oct 12;8(1):888. (PMID: 29026101)

Davis TM, Makepeace AE, Ellard S, Colclough K, Peters K, Hattersley A, Davis WA. The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase II. Med J Aust. 2017 Oct 16;207(8):344-347. (PMID: 29020906)

Gole E, Oikonomou S, Ellard S, De Franco E, Karavanaki K. A novel KCNJ11 mutation associated with transient neonatal diabetes. J Clin Res Pediatr Endocrinol. 2017 Sep 25 [Epub ahead of print] (PMID: 28943514)

Evliyaoğlu O, Ercan O, Ataloğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S. Neonatal diabetes; two cases with isolated pancreas agenensis due to homozygous PTF1A enhancer mutations and one with DEND syndrome due to KCNJ11 mutation. J Clin Res Pediatr Endocrinol. 2017 Sep 25 [Epub ahead of print] (PMID: 28943513)

Globa E, Zelinska N, Elblova L, Dusatkova P, Cinek O, Lebl J, Colclough K, Ellard S, Pruhova S. MODY in Ukraine: genes, clinical phenotypes and treatment. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1095-1103. (PMID: 28862987)

McDonald TJ, Besser RE, Perry M, Babiker T, Knight BA, Shepherd MH, Ellard S, Flanagan SE, Hattersley AT. Screening for neonatal diabetes at day 5 of life using dried blood spot glucose measurement. Diabetologia. 2017 Nov;60(11):2168-2173.  Epub 2017 Aug 5. (PMID: 28779213)

Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J, Knight B, Hyde C, Ellard S, Pearson ER, Hattersley AT; UNITED study team. Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients. Diabetes Care. 2017 Aug;40(8):1017-1025. (PMID: 28701371)

Laver TW, Weedon MN, Caswell R, Hussain K, Ellard S, Flanagan SE. Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia. Hum Mutat. 2017 Oct;38(10):1442-1444.  Epub 2017 Aug 1. (PMID: 28681398)

Jain V, Satapathy A, Yadav J, Sharma R, Radha V, Mohan V, De Franco E, Ellard S. Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern India. Indian Pediatr. 2017 Jun 15;54(6):467-471. (PMID: 28667717)

Gabbay M, Ellard S, De Franco E, Moisés RS. Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):274-277. Epub 2017 Jun 30. (PMID: 28663161)

Flanagan SE, Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S. An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. J Clin Res Pediatr Endocrinol. 2017 Sep 1;9(3):260-264. Epub 2017 Jun 30. (PMID: 28663158)

Han B, Mohamed Z, Estebanez MS, Craigie RJ, Newbould M, Cheesman E, Padidela R, Skae M, Johnson M, Flanagan S, Ellard S, Cosgrove KE, Banerjee I, Dunne MJ. Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated With Mosaic Patterns of Immature Islet Cells. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3261-3267. (PMID: 28605545)

Reinauer C, Rosenbauer J, Bächle C, Herder C, Roden M, Ellard S, De Franco E, Karges B, Holl RW, Enczmann J, Meissner T. The Clinical Course of Patients with Preschool Manifestation of Type 1 Diabetes Is Independent of the HLA DR-DQ Genotype. Genes (Basel). 2017 May 19;8(5). pii: E146. (PMID: 28534863)

Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). Metabolism. 2017 Jun;71:213-225. Epub 2017 Mar 28. (PMID: 28521875)

Katanic D, Vorgučin I, Hattersley A, Ellard S, Houghton JAL, Obreht D, Knežević Pogančev M, Vlaški J, Pavkov D. A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up. Diabetes Res Clin Pract. 2017 Jul;129:59-61. Epub 2017 May 3. (PMID: 28511139)

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes. 2017 Aug;66(8):2316-2322. Epub 2017 May 4. (PMID: 28473463)

De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, Oh V, Petz O, Caswell R, Ellard S, Urano F, Hattersley AT. Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes. 2017 Jul;66(7):2044-2053. Epub 2017 May 3. (PMID: 28468959)

Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. Epub 2017 Apr 3. (PMID: 28373276)

Galcheva S, Iotova V, Ellard S, Flanagan SE, Halvadzhiyan I, Petrova C, Hussain K. Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):471-474. (PMID: 28328534)

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S. A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes. 2017 Jun;18(4):320-323. Epub 2017 Mar 20. (PMID: 28318089)

Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ. Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol. 2017 Jan 3;12(1):1. (PMID: 28049534)

Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, Padidela R, Murphy N, Randell T, Cosgrove KE, Dunne MJ, Banerjee I. Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Orphanet J Rare Dis. 2016 Dec 1;11(1):163. (PMID: 27908292)

Satapathy AK, Jain V, Ellard S, Flanagan SE. Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings. Indian Pediatr. 2016 Oct 8;53(10):912-913. (PMID: 27771675)

Besser RE, Flanagan SE, Mackay DG, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT. Prematurity and Genetic Testing for Neonatal Diabetes. Pediatrics. 2016 Sep;138(3). Epub 2016 Aug 18. (PMID: 27540106)

Laver TW, Colclough K, Shepherd M, Patel K, Houghton JA, Dusatkova P, Pruhova S, Morris AD, Palmer CN, McCarthy MI, Ellard S, Hattersley AT, Weedon MN. The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes. Diabetes. 2016 Oct;65(10):3212-7. Epub 2016 Aug 2. (PMID: 27486234)

Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, Wadhwa N. Erratum to: Fanconi-Bickel Syndrome – Mutation in SLC2A2 Gene. Indian J Pediatr. 2016 Nov;83(11):1362. (PMID: 27477478)

De Franco E, Caswell R, Houghton JA, Iotova V, Hattersley AT, Ellard S. Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. Diabet Med. 2017 Apr;34(4):582-585. Epub 2016 Jul 31. (PMID: 27477181)

Misra S, Shields B, Colclough K, Johnston DG, Oliver NS, Ellard S, Hattersley AT. 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. 2016 Oct;59(10):2262-5. Epub 2016 Jul 19. (PMID: 27435864)

Thomas ER, Brackenridge A, Kidd J, Kariyawasam D, Carroll P, Colclough K, Ellard S. Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. J Diabetes Investig. 2016 May;7(3):332-7. Epub 2015 Oct 26. (PMID: 27330718)

Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M. Clinical and genetic features of Argentinian children with diabetes-onset before 12months of age: Successful transfer from insulin to oral sulfonylurea. Diabetes Res Clin Pract. 2016 Jul;117:104-10. Epub 2016 Apr 26. (PMID: 27329029)

Houghton JA, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, MacDonald RJ, Ellard S. Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes. 2016 Sep;65(9):2810-5. Epub 2016 Jun 9. (PMID: 27284104)

Shepherd M, Shields B, Hammersley S, Hudson M, McDonald TJ, Colclough K, Oram RA, Knight B, Hyde C, Cox J, Mallam K, Moudiotis C, Smith R, Fraser B, Robertson S, Greene S, Ellard S, Pearson ER, Hattersley AT; UNITED Team. Systematic Population Screening, Using Biomarkers and Genetic Testing, Identifies 2.5% of the U.K. Pediatric Diabetes Population With Monogenic Diabetes. Diabetes Care. 2016 Nov;39(11):1879-1888. Epub 2016 Jun 6. (PMID: 27271189)

Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. (PMID: 27245663)

Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.Kidney Int. 2016 Jul;90(1):203-11. Epub 2016 May 24. (PMID: 27234567)

Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT. Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes. 2016 Jul;65(7):2094-2099. Epub 2016 Apr 5. (PMID: 27207547)

Ünal S, Gönülal D, Uçaktürk A, Siyah Bilgin B, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, Ellard S, Hussain K. A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus. J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):478-481. Epub 2016 May 16. (PMID: 27181099)

Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE. Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Horm Res Paediatr. 2016;85(6):421-5. Epub 2016 May 14. (PMID: 27173951)

Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM. Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Diabetologia. 2016 Jul;59(7):1430-1436. Epub 2016 Apr 27. (PMID: 27118464)

Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, Szadkowska A, Hattersley AT, Ellard S, Malecki MT, Dobrzyn A, Mlynarski W. Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia. 2016 Jul;59(7):1463-1473.Epub 2016 Apr 8. (PMID: 27059371)

Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, Ashcroft FM, Hattersley AT. Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia. 2016 Jun;59(6):1162-6. Epub 2016 Mar 31. (PMID: 27033559)

Rodd C, Millette M, Iacovazzo D, Stiles CE, Barry S, Evanson J, Albrecht S, Caswell R, Bunce B, Jose S, Trouillas J, Roncaroli F, Sampson J, Ellard S, Korbonits M.  Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management. J Clin Endocrinol Metab. 2016 May;101(5):1927-30. Epub 2016 Mar 16. (PMID: 26982009)

M Owens, E Kivuva, A Quinn, P Brennan, R Caswell, HL Allen, B Vaidya, S Ellard. SOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. Clin Endocrinol (Oxf). 2016 May;84(5):715-9. Epub 2016 Feb 4. (PMID: 26708403)

NE Schoeler, C Leu, J White, V Plagnol, S Ellard, M Matarin, G Yellen, EA Thiele, M Mackay, JM McMahon, IE Scheffer, JW Sander, JH Cross, SM Sisodiya. Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. Epilepsy Res. 2015 Dec;118:22-8. Epub 2015 Oct 24. (PMID: 26590798)

TW Yew, L McCreight, K Colclough, S Ellard, ER Pearson. tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy. Diabet Med. 2016 Sep;33(9):e21-5 (PMID: 26526202)

S Bacon, MP Kyithar, SR Rizvi, E Donnelly, A McCarthy, M Burke, K Colclough, S Ellard, MM Byrne. Successful maintenance on sulfonylurea therapy and low diabetes complication rates in a HNF1A MODY cohort. Diabet Med.  2016 Jul;33(7):976-84. Epub 2015 Nov 17. (PMID: 26479152)

A Deeb, A Habeb, W Kaplan, S Attia, S Hadi, A Osman, J Al-Jubeh, S Flanagan, E DeFranco, S Ellard. Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates. Am J Med Genet A. 2016 Mar;170(3):602-9. Epub 2015 Oct 13. (PMID: 26463504)

SM O’Connell, P Proks, H Kramer, KK Mattis, G Sachse, C Joyce, JA Houghton, S Ellard, AT Hattersley, FM Ashcroft, SM O’Riordan. The value of in vitro studies in a case of neonatal diabetes with a novel Kir6.2-W68G mutation. Clin Case Rep. 2015 Oct;3(10):884-7. Epub 2015 Sep 8. (PMID: 26509030)

P Dimitri, AM Habeb, F Garbuz, A Millward, S Wallis, K Moussa, T Akcay, D Taha, J Hogue, A Slavotinek , JK Wales, A Shetty, D Hawkes, AT Hattersley, S Ellard, E De Franco. Expanding the Clinical Spectrum Associated With GLIS3 Mutations. J Clin Endocrinol Metab. 2015 Oct;100(10):E1362-9. Epub  2015 Aug 10. (PMID: 26259131)

E De Franco, SE Flanagan, JA Houghton, H Lango Allen, DJ Mackay, IK Temple, S Ellard, AT Hattersley. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet. 2015 Sep 5;386(9997):957-63. Epub 2015 Jul 28. (PMID: 26231457)

M Ramzan, SE Flanagan, S Ellard, SP Yadav. Anemia in a Child with Deafness: Be Vigilant for a Rare Cause! Indian J Hematol Blood Transfus. 2015 Sep;31(3):394-5. Epub 2014 Jul 1. (PMID: 26085729)

O Babiker, SE Flanagan, S Ellard, HA Girim, K Hussain, S Senniappan. Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. J Pediatr Endocrinol Metab. 2015 Sep 1;28(9-10):1073-7. (PMID: 25915078)

S Senniappan, A Sadeghizadeh, SE Flanagan, S Ellard, M Hashemipour, M Hosseinzadeh, M Salehi, K Hussain. Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC Res Notes. 2015 Aug 13;8:350. (PMID: 26268944)

FH Sansbury, B Kirel, R Caswell, H Lango Allen, SE Flanagan, AT Hattersley, S Ellard, CJ Shaw-Smith. Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet. 2015 Dec;23(12):1744-8. Epub 2015 Aug 12. (PMID: 26264437)

E De Franco, S Ellard. Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. Pediatr Clin North Am. 2015 Aug;62(4):1037-53. Epub 2015 May 11. Review. (PMID: 26210631)

MB Abraham, VB Shetty, G Price, N Smith, M Bock, A Siafarikas, S Resnick, E Whan, S Ellard, SE Flanagan, EA Davis, TW Jones, K Hussain, CS Choong. Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia. J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1391-8. (PMID: 26226122)

E Globa, N Zelinska, DJ Mackay, KI Temple, JA Houghton, AT Hattersley, SE Flanagan, S Ellard. Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. J Pediatr Endocrinol Metab. 2015 Nov 1;28(11-12):1391-8. (PMID: 26208381)

LC Hernández-Ramírez, P Gabrovska, J Dénes, K Stals, G Trivellin, D Tilley, F Ferraù, J Evanson, S Ellard, AB Grossman, F Roncaroli, MR Gadelha, M Korbonits; International FIPA Consortium. Landscape of familial isolated and young-onset pituitary adenomas: prospective diagnosis in AIP mutation carriers. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. (PMID: 26186299)

AJ Chakera, AM Steele, AL Gloyn, MH Shepherd, B Shields, S Ellard, AT Hattersley. Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation. Diabetes Care. 2015 Jul;38(7):1383-92. Review. (PMID: 26106223)

K Antosik, P Gnys, E De Franco, M Borowiec, M Mysliwiec, S Ellard, W Mlynarski. Single patient in GCK-MODY family successfully re-diagnosed into GCK-PNDM through targeted next-generation sequencing technology. Acta Diabetol. 2016 Apr;53(2):337-8. Epub 2015 Jun 30. (PMID: 26123671)

C Chambers, A Fouts, F Dong, K Colclough, Z Wang, SD Batish, M Jaremko, S Ellard, AT Hattersley, G Klingensmith, AK Steck. Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes. 2016 Aug;17(5):360-7. Epub 2015 Jun 8. (PMID: 26059258)

H Demirbilek, VB Arya, MN Ozbek, JA Houghton, RT Baran, M Akar, S Tekes, H Tuzun, DJ Mackay, SE Flanagan, AT Hattersley, S Ellard, K Hussain. 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. 2015 Jun;172(6):697-705. Epub 2015 Mar 9. (PMID: 25755231)

E Çamtosun, SE Flanagan, S Ellard, Z Şıklar, K Hussain, P Kocaay, M Berberoğlu. A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course. J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):144-7. (PMID: 26316438)

P Shah, VB Arya, SE Flanagan, K Morgan, S Ellard, S Senniappan, K Hussain. Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. J Pediatr Endocrinol Metab. 2015 May;28(5-6):695-9. (PMID: 25518065)

TW Fitzgerald, …… S Ellard et al Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015 Mar 12;519(7542):223-8. Epub 2014 Dec 24. (PMID: 25533962)

S Ellard, E Kivuva, P Turnpenny, K Stals, M Johnson, W Xie, R Caswell, H Lango Allen. An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet. 2015 Mar;23(3):401-4. Epub 2014 Jun 25. (PMID: 24961629)

J Dénes, F Swords, E Rattenberry, K Stals, M Owens, T Cranston, P Xekouki, L Moran, A Kumar, C Wassif, N Fersht, SE Baldeweg, D Morris, S Lightman, A Agha, A Rees, J Grieve, M Powell, CL Boguszewski, P Dutta, RV Thakker, U Srirangalingam, CJ Thompson, M Druce, C Higham, J Davis, R Eeles, M Stevenson, B O’Sullivan, P Taniere, K Skordilis, P Gabrovska, A Barlier, SM Webb, A Aulinas, WM Drake, JS Bevan, C Preda, N Dalantaeva, A Ribeiro-Oliveira Jr, IT Garcia, G Yordanova, V Iotova, J Evanson, AB Grossman, J Trouillas, S Ellard, CA Stratakis, ER Maher, F Roncaroli, M Korbonits. Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. Epub 2014 Dec 12. (PMID: 25494863)

S Harel, AS Cohen, K Hussain, SE Flanagan, K Schlade-Bartusiak, M Patel, J Courtade, JB Li, C Van Karnebeek, H Kurata, S Ellard, JP Chanoine, WT Gibson. Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):345-51. (PMID: 25720052)

E Çamtosun, Z Şıklar, P Kocaay, S Ceylaner, SE Flanagan, S Ellard, M Berberoğlu. Three cases of Wolfram syndrome with different clinical aspects. J Pediatr Endocrinol Metab. 2015 Mar;28(3-4):433-8. (PMID: 25210753)

RL Clissold, AJ Hamilton, AT Hattersley, S Ellard, C Bingham. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum. Nat Rev Nephrol. 2015 Feb;11(2):102-12. Epub 2014 Dec 23. Review. (PMID: 25536396)

EN Gonc, A Ozon, A Alikasifoglu, M Haliloğlu, S Ellard, C Shaw-Smith, N Kandemir. Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. Horm Res Paediatr. 2015;84(3):206-11. Epub 2015 Jul 14. (PMID: 26184423)

AM Habeb, A Deeb, M Johnson, M Abdullah, M Abdulrasoul, H Al-Awneh, MS Al-Maghamsi, F Al-Murshedi, R Al-Saif, S Al-Sinani, D Ramadan, H Tfayli, SE Flanagan, S Ellard. Liver disease and other comorbidities in Wolcott-Rallison syndrome: different phenotype and variable associations in a large cohort. Horm Res Paediatr. 2015;83(3):190-7. Epub 2015 Feb 5. (PMID: 25659842)

Y Shi, HB Avatapalle, MS Skae, R Padidela, M Newbould, L Rigby, SE Flanagan, S Ellard, J Rahier, PE Clayton, MJ Dunne, I Banerjee, KE Cosgrove. Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. J Pediatr. 2015 Jan;166(1):191-4. Epub 2014 Oct 23. (PMID: 25444530)

R Clissold, B Shields, S Ellard, A Hattersley, C Bingham. Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. Nephron. 2015;130(2):134-40. Epub 2015 May 22. (PMID: 26022541)

A Raimondo, AJ Chakera, SK Thomsen, K Colclough, A Barrett E, De Franco, A Chatelas, H Demirbilek, T Akcay, H Alawneh; International NDM Consortium, SE Flanagan, M Van De Bunt, AT Hattersley, AL Gloyn, S Ellard; International NDM  Consortium. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet. 2014 Dec 15;23(24):6432-40. (PMID: 25015100)

VB Arya, M Guemes, A Nessa, S Alam, P Shah, C Gilbert, S Senniappan, SE Flanagan, S Ellard, K Hussain. Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol. 2014 Dec;171(6):685-95. Epub 2014 Sep 8. (PMID: 25201519)

Y Thewjitcharoen, E Wanothayaroj, T Himathongkam, SE Flanagan, S Ellard, AT Hattersley. Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. Diabetes Res Clin Pract. 2014 Nov;106(2):e22-4. Epub 2014 Sep 22. (PMID: 25308342)

O Rubio-Cabezas, E Codner, SE Flanagan, JL Gómez, S Ellard, AT Hattersley. Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia. 2014 Nov;57(11):2421-4.Epub 2014 Aug 14. (PMID: 25120094)

M Kehar, S Bijarnia, S Ellard, J Houghton, R Saxena, IC Verma, N Wadhwa. Fanconi-Bickel syndrome – mutation in SLC2A2 gene. Indian J Pediatr. 2014 Nov;81(11):1237-9. Epub 2014 Jun 10. (PMID: 24912437)

P Kalaivanan, VB Arya, P Shah, V Datta, SE Flanagan, DJ Mackay, S Ellard, S Senniappan, K Hussain. Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1065-9. (PMID: 24859512)

H Demirbilek, P Shah, VB Arya, L Hinchey, SE Flanagan, S Ellard, K Hussain. Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. J Clin Endocrinol Metab. 2014 Oct;99(10):3660-7. Epub 2014 Jun 17. (PMID: 24937539)

K Colclough, C Saint-Martin, J Timsit, S Ellard, C Bellanné-Chantelot. Clinical utility gene card for: Maturity-onset diabetes of the young. Eur J Hum Genet. 2014 Sep;22(9). Epub 2014 Feb 12. (PMID: 24518839)

MA Abujbara, MI Liswi, MS El-Khateeb, SE Flanagan, S Ellard, KM Ajlouni. Permanent neonatal diabetes mellitus in Jordan. J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):879-83. (PMID: 24825091)

O Rubio-Cabezas, AT Hattersley, PR Njølstad, W Mlynarski, S Ellard, N White, DV Chi, ME Craig; International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes. 2014 Sep;15 Suppl 20:47-64. (PMID: 25182307)

C Shaw-Smith, E De Franco, H Lango Allen, M Batlle, SE Flanagan, M Borowiec,  CE Taplin, J van Alfen-van der Velden, J Cruz-Rojo, G Perez de Nanclares, Z Miedzybrodzka, G Deja, I Wlodarska, W Mlynarski, J Ferrer, AT Hattersley, S Ellard. GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes. 2014 Aug;63(8):2888-94. Epub 2014 Apr 2. (PMID: 24696446)

SE Flanagan, E Haapaniemi, MA Russell, R Caswell, H Lango Allen, E De Franco, TJ McDonald, H Rajala, A Ramelius, J Barton, K Heiskanen, T Heiskanen-Kosma, M Kajosaari, NP Murphy, T Milenkovic, M Seppänen, Å Lernmark, S Mustjoki, T Otonkoski, J Kere, NG Morgan, S Ellard, AT Hattersley. Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet. 2014 Aug;46(8):812-4. Epub 2014 Jul 20. (PMID: 25038750)

MA Ozturk, S Kurtoglu, O Bastug, L Korkmaz, G Daar, S Memur, H Halis, T Günes, K Hussain, S Ellard. Neonatal diabetes in an infant of diabetic mother: same novel INS missense mutation in the mother and her offspring. J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):745-8. (PMID: 24566359)

RF Vasanwala, SH Lim, S Ellard, F Yap. Neonatal Diabetes in a Singapore Children’s Hospital: Molecular Diagnoses of Four Cases. Ann Acad Med Singapore. 2014 Jun;43(6):314-9. (PMID: 25028140)

H Demirbilek, VB Arya, MN Ozbek, A Akinci, M Dogan, F Demirel, J Houghton, S Kaba, F Guzel, RT Baran, S Unal, S Tekkes, SE Flanagan, S Ellard, K Hussain. Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. Eur J Endocrinol. 2014 Jun;170(6):885-92. Epub 2014 Mar 31. (PMID: 24686051)

FK Kavvoura, A Raimondo, G Thanabalasingham, A Barrett, AL Webster, D Shears, NP Mann, S Ellard, AL Gloyn, KR Owen. Reclassification of diabetes etiology in a family with multiple diabetes phenotypes. J Clin Endocrinol Metab. 2014 Jun;99(6):E1067-71. Epub 2014 Feb 27. (PMID: 24606082)

M Shepherd, K Colclough, S Ellard, AT Hattersley. Ten years of the national genetic diabetes nurse network: a model for the translation of genetic information into clinical care. Clin Med. 2014 Apr;14(2):117-21. (PMID: 24715120)

S Senniappan, S Alexandrescu, N Tatevian, P Shah, V Arya, SE Flanagan, S Ellard, D Rampling, M Ashworth, RE Brown, K Hussain. Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med. 2014 Mar 20;370(12):1131-7. (PMID: 24645945)

N Abraham, A Ahamed, AG Unnikrishnan, H Kumar, S Ellard. Permanent neonatal diabetes mellitus due to an ABCC8 mutation: a case report. JOP. 2014 Mar10;15(2):198-200. (PMID:24618446)

H Lango Allen, R Caswell, W Xie, X Xu, C Wragg, PD Turnpenny, CL Turner, MN Weedon, S Ellard (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.2014 Apr;51(4):264-7 (PMID: 24459211)

SE Flanagan, E De Franco, H Lango Allen, M Zerah, MM Abdul-Rasoul, JA Edge, H Stewart, E Alamiri, K Hussain, S Wallis, L de Vries, O Rubio-Cabezas, JA Houghton, EL Edghill, AM Patch, S Ellard, AT Hattersley. (2014) Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man. Cell Metab. Jan 7;19(1):146-54. (PMID:24411943)

AM Steele, BM Shields, KJ Wensley, K Colclough, S Ellard, ATHattersley. (2014) Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia.JAMA. Jan 15;311(3):279-86 (PMID:24430320)

MN Weedon, I Cebola, AM Patch, SE Flanagan, E De Franco, R Caswell, SA Rodriguez-Segui, C Shaw-Smith, CH Cho, HL Allen, JA Houghton, CL Roth, R Chen, K Hussain, P Marsh, L Vallier, A Murray; International Pancreatic Agenesis Consortium, S Ellard, J Ferrer, AT Hattersley. (2014) Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet. Jan:46 (1) 61-4  (PMID:24212882)

A Stride, B Shields, O Gill-Carey, AJ Chakera, K Colclough, S Ellard, AT Hattersley. (2014) Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia. Jan;57(1):54-6 (PMID:24092492)

SM McGlacken-Byrne, CP Hawkes, SE Flanagan, S Ellard, CM McDonnell, NP Murphy. (2014) The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series Diabet Med. Jan: 31 (1)1-5 (PMID: 23796040)

VB Arya, S Rahman, S Senniappan, SE Flanagan, S Ellard, K Hussain. HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. Diabet Med. 2013 Dec 3. [Epub ahead of print] (PMID:24299156)

EC Young, MM Owens, I Adebiyi, T Bedenham, R Butler, J Callaway, T Cranston, C Crosby, IA Cree, L Dutton, C Faulkes, C Faulkner, E Howard, J Knight, Y Huang, L Lavender, LP Lazarou, H Liu, D Mair, A Milano, S Sandell, A Skinner, A Wallace, M Williams, V Spivey, J Goodall, J Frampton, S Ellard; Clinical Molecular Genetics Society (CMGS) Scientific Subcommittee. A Comparison of Methods for EGFR Mutation Testing in Non-Small Cell Lung Cancer.DiagnMolPathol. 2013 Dec;22(4):190-5. (PMID:24193010)

M Igoillo-Esteve, A Genin, N Lamber, J Désir, I Pirson, B Abdulkarim, N Simonis, A Drielsma, L Marsell, P Marchetti, P Vanderhaeghen, DL Eizirik, W Wuyts, C Julier, AJ Chakera, S Ellard, AT Hattersley, M Abramowicz, M Cnop. tRNAMethyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans. PLoS Genet. 2013 Oct;9(10) Epub 2013 Oct 31. (PMID:24204302)

YM Bee,Y Zhao, S Ellard, AT Hattersley, F Yap. Permanent neonatal diabetes in siblings with novel C109Y INS mutation transmitted by an unaffected parent with somatic mosaicism.Pediatr Diabetes. 2013 Nov 27 [Epub ahead of print] (PMID:24279684)

VB Arya, SE Flanagan, E Schober, B Rami-Merha, S Ellard, K Hussain.Activating AKT2 mutation: Hypoinsulinaemichypoketotic hypoglycaemia.J ClinEndocrinolMetab.2013 Nov 27. [Epub ahead of print] (PMID:24285683)

AJ Hamilton, C Bingham, TJ McDonald, PR Cook, RC Caswell, MN Weedon, RA Oram, BM Shields, M Shepherd, CD Inward, JP Hamilton-Shield, J Kohlhase, S Ellard, AT Hattersley. The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype. J Med Genet.2013 Nov 27. [Epub ahead of print] PMID: 24285859

O Rubio-Cabezas, S Ellard. (2013) Diabetes Mellitus in Neonates and Infants: Genetic Heterogeneity, Clinical Approach to Diagnosis and Therapeutic options. Horm Res Paediatr 2013 80(3):137-46  (PMID:24051999)

S Ellard, GP Patrinos, WS Oetting. (2013) Clinical Applications of Next-Generation Sequencing: The 2013 Human Genome Variation Society Scientific Meeting. Hum Mutat. 2013 Nov;34(11):1583-7 (PMID:23956188)

DB Sparrow, EA Faqeih, B Sallout, A Alswaid, F Ababneh, M Al-Sayed, H Rukban, WM Eyaid, R Kageyama, S Ellard, PD Turnpenny, SL Dunwoodie . (2013) Mutation of HES7 in a large extended family with spondylocostaldysostosis and dextrocardia with situsinversus. Am J Med Genet A. 2013 Sep;161(9):2244-9 PMID:23897666

B Ersoy, B Ozhan, S Kiremitçi, O Rubio-Cabezas, S Ellard. (2013) Primary hypothyroidism: an unusual manifestation of Wolcott-Rallison syndrome. Eur J Pediatr. 2013 Aug 11. [Epub ahead of print] (PMID:23933668)

AM Steele, KJ Wensley, S Ellard, R Murphy, M Shepherd, K Colclough, AT Hattersley, BM Shields BM. (2013) Use of HbA1c in the Identification of Patients with Hyperglycaemia Caused by a Glucokinase Mutation: Observational Case Control Studies. PLoS One. 2013 Jun 14;8(6):e65326. (PMID:23799006)

TJ McDonald, S Ellard. (2013) Maturity onset diabetes of the young: identification and diagnosis. Ann ClinBiochem. 2013 Sep;50(Pt 5):403-15 (PMID:23878349)

S Ellard, H Lango Allen, E De Franco, SE Flanagan, G Hysenaj, K Colclough, JA Houghton, M Shepherd, AT Hattersley, MN Weedon, R Caswell. (2013) Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia. 2013 Sep;56(9):1958-63 (PMID:23771172)

C Pihoker, LK Gilliam, S Ellard, D Dabelea, C Davis, LM Dolan, CJ Greenbaum, G Imperatore, JM Lawrence, SM Marcovina, E Mayer-Davis, BL Rodriguez, AK Steck, DE Williams, AT Hattersley; for the SEARCH for Diabetes in Youth Study Group. 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 ClinEndocrinolMetab. 2013 Oct;98(10):4055-4062 (PMID:23771925)

MN Weedon, S Ellard, MJ Prindle, R Caswell, HL Allen, R Oram, K Godbole, CS Yajnik, P Sbraccia, G Novelli, P Turnpenny, E McCann, KJ Goh, Y Wang, J Fulford, LJ McCulloch, DB Savage, S O’Rahilly, K Kos, LA Loeb, RK Semple, AT Hattersley. (2013) An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. Nat Genet. 2013 Aug;45(8):947-50 (PMID:23770608)

A Setoodeh, AHaghighi, N Saleh-Gohari, S Ellard, A Haghighi. (2013) Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblasticanemia. Gene. 2013 May 1; 519(2):295-7 (PMID:23454484)

G Catli, A Abaci, SE Falangan, E De Franco, S Ellard, A Hattersley, H Guleryuz, E Bober. (2013) A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: A case report. Diabetes Metab 2013 Sep;39(4):370-4 (PMID:23639568)

G Thanabalasingham, K Kaur, F Talbot, K Colclough, A Mathews, J Taylor, S Ellard, KR Owen. (2013) Atypical phenotype associated with reported GCK exon 10 deletions: clinical judgement is needed alongside appropriate genetic investigations. Diabet Med. 2013 Aug;30(8):e233-8 (PMID:23586928)

D Khoriati, VB Arya, SE Flanagan, S Ellard, K Hussain. (2013) Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation. BMJ Case Rep. 2013 Apr 5;2013. (PMID:23563683)

RK Shankar, S Ellard, D Standiford, C Pihoker, LK Gilliam, A Hattersley, LM Dolan (2013) Digenic heterozygous HNF1A and HNF4A mutations in two siblings with childhood-onset diabetes. Pediatr Diabetes. 2013 Nov;14(7):535-8 (PMID:23551881)

V Dua, SP Yadav, V Kumar, AA Khan, R Puri, IC Verma, SE Flanagan, S Ellard, A Sachdeva. (2013) Thiamine Responsive MegaloblasticAnemiaWith a Novel SLC19A2 Mutation Presenting With Myeloid Maturational Arrest. Pediatr Blood Cancer.2013 Jul;60(7):1242-3 (PMID:23512295)

M Proudfoot, P Jardine, A Straukiene, R Noad, A Parrish, S Ellard, S Weatherby (2013) Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy. JIMD Rep. 2013 10:103-664) (PMID:23430810)

EA Calton, IK Temple, DJ Mackay, M Lever, S Ellard, SE Flanagan, JH Davies, K Hussain, JC Gray. (2013) Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparentaldisomy 11p causing focal congenital hyperinsulinism.Eur J Med Genet. 2013 Feb;56(2):114-7. (PMID:23261959)

AJ Chakera, SE Flanagan, S Ellard, AT Hattersley. (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. 2013 Feb;36(2):e31. (PMID:22826452)

VB Arya, SE Flanagan, A Kumaran, JP Shield, S Ellard, K Hussain, RR Kapoor. (2013) Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Arch Dis Child Fetal Neonatal Ed. (2013) Jul;98(4):F356-8. (PMID:23362136)

LE Docherty, S Kabwama, A Lehmann, E Hawke, L Harrison, SE Flanagan, S Ellard, AT Hattersley, JP Shield, S Ennis, DJ Mackay, IK Temple. (2013) Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients.Diabetologia. 2013 Apr;56(4):758-62 (PMID:23385738)

RR Kapoor, SE Flanagan, VB Arya, JP Shield, S Ellard, K Hussain.(2013) Clinical and Molecular Characterisation of 300 patients with Congenital Hyperinsulinism.Eur J Endocrinol. 2013 Mar 15;168(4):557-64. (PMID:23345197)

K Colclough, C Bellanne-Chantelot, C Saint-Martin, SE Flanagan, S Ellard. (2013) 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 (MODY) and Hyperinsulinaemic Hypoglycaemia. Hum Mutat. 2013 May;34(5):669-85 (PMID:17407387)

E Mozzill, D Melis, M Falco, V Fattorusso, R Taurisano, SE Flanagan, S Ellard, AFranzese. (2013) Thiamine responsive megaloblasticanemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatr Diabetes. 2013 Aug;14(5):384-7. (PMID:23289844)

 E De Franco, C Shaw-Smith, SE Flanagan, EL Edghill, J Wolf, V Otte, F Ebinger, P Varthakavi, T Vasanthi, S Edvardsson, AT Hattersley, S Ellard. (2013) Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency.Diabet Med. 2013 May;30(5): e197-200. (PMID:23320570)

 SE Flanagan, DJ Mackay, SA Greeley, TJ McDonald, V Mericq, J Hassing, EJ Richmond, WR Martin, C Acerini, AM Kaulfers, DP Flynn, J Popovic, MA Sperling, K Hussain, S Ellard, AT Hattersley. (2013) Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia. 2013 Jan;56(1):218 (PMID:23111732)

 G. Catli, A Abaci, SE Flanagan, A Anik, S Ellard, E Bober. (2013) Permanent neonatal diabetes caused by a novel mutation in the INS gene.Diabetes Res ClinPract. 2013 Jan;99(1): (PMID:23107109)

EL Edghill, K Stals, RA Oram, MH Shepherd, AT Hattersley, S Ellard.(2013) HNF1B deletions in patients with young-onset diabetes but no known renal disease.Diabet Med. 2013 Jan;30(1):114-7 (PMID:22587559)

 SE Flanagan, W Xie, R Caswell, A Damhuis, C Vianey-Saban, T Akcay, F Darendeliler, F Bas, A Guven, Z Siklar, G Ocal, M Berberoglu, N Murphy, M O’Sullivan, A Green, PE Clayton, I Banerjee, PT Clayton, K Hussain, MN Weedon, S Ellard. (2013) Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation. Am J Hum Genet. (2013) Jan 10;92(1):131-6 (PMID:23273570)

 E De Franco, C Shaw-Smith, SE Flanagan, MH Shepherd; International NDM Consortium, AT Hattersley, S Ellard (2013) GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency. Diabetes Mar;62(3):993-7 (PMID:23223019)

 FH Sansbury, S Ellard, C Shaw-Smith, P Turnpenny. (2012) Many patients have an identifiable genetic cause of Hirschsprung’s disease. BMJ.2012 Dec 3; 345. (PMID:23208263)

M Al-Shawi, A Al Mutair, S Ellard, AM Habeb. (2012) Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation.J PediatrEndocrinolMetab. 2013;26(7-8):757-60 (PMID:23585173)

M Bayarchimeg, D Ismail, A Lam, D Burk, J Kirk, W Hogler, SE Flanagan, S Ellard, K Hussain. (2012) Galactokinase deficiency in a patient with congenital hyperinsulinism JIMD Rep. 2012;5:7-11. (PMID:23430910)

 E Durmaz, S Flanagan, ABerdeli, S Semiz, S Akcurin, S Ellard, I Bircan. (2012) Variability in the age at diagnosis of diaetes in two unrelated patients with a homozygous gluckinase gene mutation.PediatrEndocr Met 2012, 25(7-8) 805-808 (PMID:23155716)

 M Rachmiel, O Rubio-Cabezas, S Ellard, AT Hattersley, K Perlman.(2012) Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene.Pediatr Diabetes. 2012 Sep;13(6):e26-9 (PMID:21910811)

AM Habeb, MS Al-Magamsi, IM Eid, MI Ali, AT Hattersley, K Hussain, S Ellard. (2012) Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia.Pediatr Diabetes. 2012 Sep;13(6):499-505 (PMID:22060631)

AJ Chakera, VL Carleton, S Ellard, J Wong, DK Yue, J Pinner, AT Hattersley, GP Ross. (2012) Antenatal Diagnosis of Fetal Genotype Determines if Maternal Hyperglycemia Due to a Glucokinase Mutation Requires Treatment. Diabetes Care. 2012 Sep;35(9):1832-4. (PMID:22773699)

I Banerjee, H Avatapalle, A Petkar, M Skae, RN Padidela, S Ehtisham, L Patel, L Rigby, SE Flanagan, S Ellard, C Jones, G Ciotti, N Malaiya, PE Clayton. (2012) The association of cardiac ventricular hypertrophy with Congenital Hyperinsulinism (CHI). Eur J Endocrinol. 2012 Nov;167(5):619-24 (PMID:22894813)

AM Brooks, M Owens, JA Sayer, M Salzmann, S Ellard, BVaidya. (2012) Pseudohypoaldosteronism type 2 presenting with hypertension and hyperkalaemia due to a novel mutation in the WNK4 gene.QJM. 2012 Aug;105(8):791-4. (PMID:21764813)

J Dupont, C Pereira, A Medeira, R Duarte, S Ellard, L Sampaio. (2012) Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas. J PediatrEndocrinolMetab. 2012;25(3-4):367-70. (PMID:22768671)

V Jain, SE Flanagan, S Ellard.(2012) Permanent neonatal diabetes caused by a novel mutation.Indian Pediatr. 2012 Jun 8;49(6):486-8. (PMID:22796691)

Oztekin, E Durmaz, S Kalay, SE Flanagan, S Ellard, I Bircan.(2012) Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene.J Perinatol. 2012 Aug;32(8):645-7. doi: 10.1038/jp.2012.46. (PMID:22842804)

A Haghighi, M Razzaghy-Azar, ATalea, M Sadeghia, S Ellard, A Haghighi. (2012) Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1.Eur J Med Genet. 2012 Nov;55(11):620-4 (PMID:22902344)

AM Habeb, SE Flanagan, A Deeb, I Al-Alwan, H Alawneh, AA Balafrej, A Mutair, AT Hattersley, K Hussain, SEllard. (2012) Permanent neonatal diabetes: different aetiology in Arabs compared to Europeans. Arch Dis Child. 2012 Aug;97(8):721-3. (PMID:22859427)

C Alves, SE Flanagan, S Ellard, DJ Mackay.(2012) Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. Diabetes Res ClinPrac,Sep;97(3):e41-4 (PMID:22749773)

K Guegan, K Stals, M Day, P Turnpenny, S Ellard. (2012) JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome. Clin Genet. 2012 Jun;13(4):315-8(PMID:21752016)

Rubio-Cabezas, SE Flanagan, ADamhui, AT Hattersley, S Ellard. (2012) K(ATP) channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Eur J Endocrinol. 2012 May 30. Epub ahead of print  (PMID:21981029)

CS Fraser, O Rubio-Cabezas, JA Littlechild, S Ellard, AT Hattersle, SE Flanagan. (2012) Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes. Eur J Endocrinol. Sep;167(3):417-21. (PMID:22648966)

 FH Sansbury, SE Flanagan, JA Houghton, FL ShuixianShen, AM Al-Senan, AM Habeb, M Abdullah, A Kariminejad, S Ellard, AT Hattersley. (2012) SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia. Sep;55(9):2381-5. (PMID:22660720)

 E Mıhcı, D Türkkahraman, S Ellard, S Akcurin, I Bircan.(2012) Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene.J Clin Res PediatrEndocrinol. Jun;4(2):99-101. (PMID:22672868)

SE Flanagan, A Damhuis, I Banerjee, D Rokicki, C Jefferies, R Kapoor, K Hussain, S Ellard (2012) Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes. May;13(3):285-289. (PMID:21978130)

S Shah, S Ellard, R Kneen, M Lim, N Osborne, J Rankin, N Stoodley, M Van Der Knaap , A Whitney, P Jardine. (2012) Childhood presentation of COL4A1 mutations.Dev Med Child Neurol. Jun;54(6):569-57429) (PMID:22574627)

AJ Heslegrave, RR Kapoor, S Eaton, B Chadefaux, T Ackay, E Simsek, SE Flanagan, S Ellard, K Hussain. (2012) Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.Orphanet J Rare Dis. May 14;7(1):25. (PMID:22583614)

NL Beer , KK Osbak, M van de Bunt, ND Tribble, AM Steele, KJ Wensley, EL Edghill, K Colcough, A Barrett, L Valentínová, JK Rundle, A Raimondo, J Grimsby, S Ellard, AL Gloyn. (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. Jul 35,7 1482-4 (PMID:22611063)

B Karges, D Schnur, S Ellard, H Kentrup, W Karges. (2012) Effective treatment of diabetes caused by activating the ABCC8/SUR1 mutation with glimepiride.Diabet Med. 29(5):692-3 (PMID:21992555)

C Quinlan, K Guegan, A Offiah, RO Neill, MP Hiorns, S Ellard, D Bockenhauer, WV Hoff, AM Waters. (2012) Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment. PediatrNephrol. 27(4):581-8 (PMID:22101457)

C Shaw-Smith, SE Flanagan, AM Patch, J Grulich-Henn, AM Habeb, K Hussain, R Pomahacova, K Matyka, M Abdullah, AT Hattersley, S Ellard. (2012) Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatr Diabetes. Jun;13(4):307-14 () (PMID:22369132)

TJ McDonald, J McEneny, ER Pearson, G Thanabalasingham, M Szopa, BM Shields, S Ellard, KR Owen, MT Malecki, AT Hattersley, IS Young . (2012) Lipoprotein composition in HNF1A-MODY: Differentiating between HNF1A-MODY and Type 2 diabetes. ClinChimActa. 413(9-10):927-32. (PMID:22360925)

G. Thanabalasingham , A. Pal, MP Selwood, C Dudley, K Fisher, PJ Bingley, S Ellard, AJ Farmer, MI McCarthy, KR Owen. (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. Jun, 35, 6, 1206-12 (PMID:22432108)

PD Turnpenny, S Ellard (2012). Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 20, 251-57 (PMID:21934706)

P Bowman, SE Flanagan, EL Edghill, A Damhuis, MH Shepherd, R Paisey, AT Hattersley, S Ellard (2011). Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia. 55(1):123-7  (PMID:21989597)

BM. Shields, TJ. McDonald, S. Ellard, MJ. Campbell, C. Hyde, AT.Hattersley. (2012) The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia. May;55(5):1265-72. PMID:22218698

D. Ismail, RR. Kapoor, VV. Smith, M. Ashworth, O. Blankenstein, A. Pierro, SE. Flanagan, S. Ellard, K. Hussain. (2012) The heterogeneity of focal forms of congenital hyperinsulinism. J ClinEndocrinolMetab.97(1):E94-99 (PMID:22031516)

RR Kapoor, SE Flanagan, S Ellard, K Hussain (2012). Congenital hyperinsulinism: Marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. ClinEndocrinol (Oxf). 76(2):312-3. (PMID:21851374)

G. Ocal, SE. Flanagan, B. Hachamdioglu, M. Berberoglu, Z. Siklar, S. Ellard, S. SavasErdeve, E. Okulu, I. Mungan Akin, B. Atasay, S. Arsan, A. Yagmurlu. (2011) Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutations in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potatasium channel in the pancreatic beta cell. J PediatrEndocr Met 24(11-12) 1019-23. (PMID:22308858)

Z.Siklar, S. Ellard, E. Okulu, M. Berberoglu, E. Young, S. SavasErdeve, I. Akin Mungan, B. Hachamdioglu, O. Erdeve, S. Arsan, G. Ocal. (2011) Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant. J PediatrEndocrinolMetab.24(11-12):1077-80 (PMID:22308870)

HL Allen, SE Flanagan, C Shaw-Smith, E De Franco, I Akerman, R Caswell; the International Pancreatic Agenesis Consortium, J Ferrer, AT Hattersley, S Ellard (2011) GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet. 2011 11;44(1):20-22. (PMID:22158542)

IM Carr, N Camm, GR Taylor, R Charlton, S Ellard, EG Sheridan, AF Markham, DT Bonthron. (2011). GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms. J Med Genet. 48(2):123-30. (PMID:21037276)

S Thakur, SE Flanagan, S Ellard, IC Verma (2011) Congenital Hyperinsulinism Caused by Mutations in ABCC8 (SUR1) Gene.Indian Pediatr.8, 48(9), 733-4. PMID:21992908

SE Flanagan, RR Kapoor, VV Smith, K Hussain, S Ellard. (2011) Paternal UniparentalIsodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated HyperinsulinemicHypoglycemia. Front Endocrinol (Lausanne). 2011;2:66. (PMID:22654821)

R Spiegel, A Dobbie, C Hartman, L de Vries, S Ellard, SA Shalev (2011).Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations. Am J Med Genet A. 155A(11):2821-5 (PMID:21965172)

S Balasubramaniam, R Kapoor, JH Yeow, PG Lim, SE Flanagan, S Ellard, K Hussain (2011).Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.J PediatrEndocrinolMetab.24, 7-8, 573-7. (PMID:21932603)

MN Weedon, R Hastings, R Caswell, W Xie, K Paszkiewicz, T Antoniadi, M Williams, C King, L Greenhalgh, R Newbury-Ecob, S Ellard (2011). Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 12, 89(2),308-12. (PMID:21820100)

RR Kapoor, SE Flanagan, CT James, J McKiernan, AM Thomas, SC Harmer JP Shield, A Tinker, S Ellard, K Hussain (2011) Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia. 54, 10, 2575-83 (PMID:21674179)

MP Kyithar, S Bacon, KK Pannu, SR Rizvi, K Colclough, S Ellard, MM Byrne (2011)Identification of HNF1A-MODY and HNF4A-MODY in Irish families: Phenotypic characteristics and therapeutic implications. Diabetes Metab.Dec;37(6):512-9. (PMID:21683639)

TJ McDonald, BM Shields, J Lawry, KR Owen, AL Gloyn, S Ellard, AT Hattersley (2011) High-Sensitivity CRP Discriminates HNF1A-MODY From Other Subtypes of Diabetes Care. 2011 Aug;34(8). (PMID:21700917)

S Shahawy, NK Chan, S Ellard, E Young, H Shahawy, J Mace, R Peverini, R Chinnock, PR Njolstad, AT Hattersley, E Hathout (2011) A pathway to insulin independence in newborns and infants with diabetes. J Perinatol.31, 8, 567-70.(PMID:21796147)

D Ismail, VV Smith, P de Lonlay, MJ Ribeiro, J Rahier, O Blankenstein, SE Flanagan, C Bellanné-Chantelot, V Verkarre, Y Aigrain, A Pierro, S Ellard, K Hussain.(2011) Familial focal congenital hyperinsulinism.J ClinEndocrinolMetab.96, 1, 24-8. (PMID:20943779)

S Hameed, S Ellard, HJ Woodhead, KA Neville, JL Walker, ME Craig, T Armstrong, L Yu, GS Eisenbarth, AT Hattersley, CF Verge. (2011) Persistently autoantibody negative (PAN) type 1 diabetes mellitus in children. Pediatr Diabetes. 12(3 Pt 1), 142-9 (PMID:21518407)

R Männikkö, P Stansfeld, AS Ashcroft, AT Hattersley, M Sansom, S Ellard , FM Ashcroft (2011) A Conserved Tryptophan at the Membrane-Water Interface Acts as a Gatekeeper for Kir6.2/SUR1 Channels and Causes Neonatal Diabetes when Mutated. Physiol. 1;589(Pt 13):3071-83. (PMID:21540348)

AA Ghazi, AA Dezfooli, F Mohamadi, SV Yousefi, A Amirbaigloo, S Ghazi, M Pourafkari, D Berney, S Ellard , AB Grossman. (2011) Cushing’s Syndrome Secondary to a Thymic Carcinoid Tumor Due to Multiple Endocrine Neoplasia Type 1. EndocrPract. 2011 May 6:1-16. EndocrPract. 17, 4, 92-6.(PMID:21550948)