Publications

Exeter-based authors are highlighted in bold.

Shepherd MH, Shields BM, Hudson M, Pearson ER, Hyde C, Ellard S, Hattersley AT, Patel KA; UNITED study.
UK nationwide prospective study of treatment change in MODY: genetic subtype and clinical characteristics predict optimal glycaemic control after discontinuing insulin and metformin.

Diabetologia. 2018 Sep 18. [Epub ahead of print] (PMID: 30229274)

Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, Ellard S, Craig ME.
ISPAD 2018 Consensus Guidelines: The diagnosis and management of monogenic diabetes in children and adolescents.

Pediatr Diabetes. 2018 Sep 17. [Epub ahead of print] (PMID: 30225972)

Burren CP, Caswell R, Castle B, Welch CR, Hilliard TN, Smithson SF, Ellard S.
TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton.

Am J Med Genet A. 2018 Sep;176(9):1950-1955. (PMID: 30144375)

Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, Weedon MN.
The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Diabetes. 2018 Sep;67(9):1903-1907. (PMID: 29895593)

Mangla P, Hussain K, Ellard S, Flanagan SE, Bhatia V.
Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis.

J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):943-945. (PMID: 29958183)

Laver TW, Wakeling MN, Hua JHY, Houghton JAL, Hussain K, Ellard S, Flanagan SE.
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

Clin Endocrinol (Oxf). 2018 Aug 23. [Epub ahead of print] (PMID: 30238501)

Clissold RL, Fulford J, Hudson M, Shields BM, McDonald TJ, Ellard S, Hattersley AT, Bingham C.
Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic.

Clin Kidney J. 2018 Aug;11(4):453-458. (PMID: 30094008)

Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, Flanagan SE, Babiker T, Thomas NJ, Shepherd MH, Ellard S, Klimes I, Szopa M, Polak M, Iafusco D, Hattersley AT, Njølstad PR.
Neonatal Diabetes International Collaborative Group.
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Lancet Diabetes Endocrinol. 2018 Aug;6(8):637-646. (PMID: 29880308)

Berek JS, Matulonis UA, Peen U, Ghatage P, Mahner S, Redondo A, Lesoin A, Colombo N, Vergote I, Rosengarten O, Ledermann J, Pineda M, Ellard S, Sehouli J, Gonzalez-Martin A, Berton-Rigaud D, Madry R, Reinthaller A, Hazard S, Guo W, Mirza MR.
Safety and dose modification for patients receiving niraparib.

Ann Oncol. 2018 Aug 1;29(8):1784-1792. (PMID: 29767688)

Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S.
Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Pediatr Diabetes. 2018 Aug;19(5):898-904. (PMID: 29521454)

Haliloğlu B, Tüzün H, Flanagan SE, Çelik M, Kaya A, Ellard S, Özbek MN.
Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia.

J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):279-283. (PMID: 29217498)

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, Weedon MN.
PLIN1 haploinsufficiency is not associated with lipodystrophy.

J Clin Endocrinol Metab. 2018 Jul 17. [Epub ahead of print] (PMID: 30020498)

Francis PA, Pagani O, Fleming GF, Walley BA, Colleoni M, Láng I, Gómez HL, Tondini C, Ciruelos E, Burstein HJ, Bonnefoi HR, Bellet M, Martino S, Geyer CE Jr, Goetz MP, Stearns V, Pinotti G, Puglisi F, Spazzapan S, Climent MA, Pavesi L, Ruhstaller T, et al.
Tailoring Adjuvant Endocrine Therapy for Premenopausal Breast Cancer.
N Engl J Med. 2018 Jul 12;379(2):122-137. (PMID: 29863451)

Davis WA, Peters KE, Makepeace A, Griffiths S, Bundell C, Grant SFA, Ellard S, Hattersley AT, Paul Chubb SA, Bruce DG, Davis TME.
Prevalence of diabetes in Australia: insights from the Fremantle Diabetes Study Phase II.

Intern Med J. 2018 Jul;48(7):803-809. (PMID: 29512259)

Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, et al.
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals.

Genet Med. 2018 Jun 15. [Epub ahead of print] (PMID: 29907798)

Low KJ, Baptista J, Babiker M, Caswell R, King C, Ellard S, Scurr I.
Hemizygous UBA5 missense mutation unmasks recessive disorder in a patient with infantile-onset encephalopathy, acquired microcephaly, small cerebellum, movement disorder and severe neurodevelopmental delay.

Eur J Med Genet. 2018 Jun 12. [Epub ahead of print] (PMID: 29902590)

Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O’Grady GL, et al.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol. 2018 Jun;83(6):1105-1124. (PMID: 29691892)

Low KJ, Stals K, Caswell R, Wakeling M, Clayton-Smith J, Donaldson A, Foulds N, Norman A, Splitt M, Urankar K, Vijayakumar K, Majumdar A, Study D, Ellard S, Smithson SF.
Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

Eur J Hum Genet. 2018 Jun;26(6):796-807. (PMID: 29511323)

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. 2018 Jun 1;10(2):175-178. (PMID: 28943514)

Evliyaoğlu O, Ercan O, Ataoğlu E, Zübarioğlu Ü, Özcabı B, Dağdeviren A, Erdoğan H, De Franco E, Ellard S.
Neonatal Diabetes: Two Cases with Isolated Pancreas Agenesis due to Homozygous PTF1A Enhancer Mutations and One with Developmental Delay, Epilepsy, and Neonatal Diabetes Syndrome due to KCNJ11 Mutation.

J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):168-174. (PMID: 28943513)

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, Setoodeh A, Haghighi A, Haghighi A, Shaalan Y; International Neonatal Diabetes Consortium, Hattersley AT, Ellard S, De Franco E.
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Diabetologia. 2018 May;61(5):1027-1036. (PMID: 29450569)

Caimari F, Hernández-Ramírez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M; International FIPA consortium.
Risk category system to identify pituitary adenoma patients with AIP mutations.
J Med Genet. 2018 Apr;55(4):254-260. (PMID: 29440248)

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 Apr;61(4):862-869. (PMID: 29417186)

Loveday C, Josephs K, Chubb D, Gunning A, Izatt L, Tischkovitz M, Ellard S, Turnbull C.
p.Val804Met, the most frequent pathogenic mutation in RET, confers a very low lifetime risk of medullary thyroid cancer.
J Clin Endocrinol Metab. 2018 Mar 23. [Epub ahead of print] (PMID: 29590403)

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. (
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 Mar 28;31(3):345-348. (
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 Jan 4;102(1):27-43. (
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. 2018 Jan;38(1):33-43. (
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)

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)

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)

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