Publications

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. 2015 Dec 18. [Epub ahead of print] (PMID: 26758964)

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). 2015 Dec 28. [Epub ahead of print] PubMed (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. PubMed (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. 2015 Nov 3. [Epub ahead of print] (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. 2015 Oct 19. [Epub ahead of print] (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. 2015 Oct 13. [Epub ahead of print] (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 Allen Lango, 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 Aug 12. [Epub ahead of print] (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 Jul 30. pii:/j/jpem.ahead-of-print/jpem-2015-0094/jpem-2015-0094.xml. [Epub ahead of print] (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 Jul 24. pii: /j/jpem.ahead-of-print/jpem-2015-0170/jpem-2015-0170.xml. [Epub ahead of print] (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 Jul 17:jc20151869. [Epub ahead of print] (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. 2015 Jun 30. [Epub ahead of print] (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. 2015 Jun 8. [Epub ahead of print] (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)