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Dr Sarah Flanagan

Dr Sarah Flanagan

Sir Henry Dale Research Fellow

01392 408323

RILD Building 03.05

Following graduation from the University of Bristol in 2003 Sarah joined the monogenic diabetes research team at the Peninsula Medical school. In 2005 she started her PhD under the supervision of Professors Andrew Hattersley and Sian Ellard and 2 years later submitted her thesis which contained 6 peer-reviewed papers reporting novel genotype/phenotype relationships in neonatal diabetes and congenital hyperinsulinism.

On completion of her doctoral studies Sarah was awarded the Sir Bob Wilkins, Peninsula Medical School, Fellowship. This funding allowed her to continue research investigating the genetic basis of neonatal diabetes and enabled her to spend time with Dr Deborah Mackay (University of Southampton) at the Wessex Regional Genetics laboratory learning techniques for the molecular diagnosis of transient neonatal diabetes due to defects in methylation at chromosome 6q24.

In 2008 Sarah received a Heredity Fieldwork Grant from the Genetics Society which funded a secondment to the Department of Physiology, Anatomy and Genetics at the University of Oxford. Under the supervision of Professor Frances Ashcroft Sarah undertook electrophysiology studies on mutant K-ATP channels expressed in Xenopus oocytes.

Sarah worked as a post-doctoral research fellow for 7 years on Wellcome Trust and Medical Research Council funded project grants investigating the genetic basis of neonatal diabetes and congenital hyperinsulinism. During this period she published >125 research papers in international journals (23 first author or senior author) on these opposing disorders of insulin secretion. As part of the monogenic diabetes research team in Exeter Sarah has contributed to the discovery of 9 of the 20 known genetic causes of permanent neonatal diabetes and was lead author for 3 of these genes (Flanagan et al. Cell Metab 2014, Flanagan et al. Nat Genet 2014). Her work on the discovery of recessive MNX1 and NKX2-2 mutations causing neonatal diabetes was short-listed for the Junior Research Prize at the 2011 EASD SGGD meeting.

In 2014 Sarah was awarded a Sir Henry Dale Fellowship to take forward her work on gene discovery in congenital hyperinsulinaemic hypoglycaemia. This work complements the neonatal diabetes research being undertaken in Exeter which shares many biological mechanisms and pathways with congenital hyperinsulinism and promises to yield important findings about mechanisms of insulin secretion. Further details regarding her research can be found on her laboratory website

Qualifications

PhD: Molecular Genetics, Peninsula Medical School (2005-2007)

BSc (hons): Cancer Biology and Immunology, University of Bristol (2000-2003)
 

Links

Research

Research interests

Gene discovery and genotype/phenotype relationships in neonatal diabetes and congenital hyperinsulinaemic hypoglycaemia (lab website: https:www.hyperinsulinismgenes.org)

Dr Flanagan explains her work on congenital hyperinsulinism  in the video below, filmed at the Living Systems Institute Research Symposium in March 2016. 

Research projects

Homozygosity mapping and next-generation sequencing analysis to identify novel recessive aetiologies for congenital hyperinsulinism (PI)

Defining novel genetic mechanisms of congenital hyperinsulinism. MRC Funding to Prof Sian Ellard and Prof Khalid Hussain

New insights from neonatal diabetes. Wellcome Trust Funding to Prof Andrew Hattersley and Prof Sian Ellard

Research networks

Linkedin: uk.linkedin.com/pub/sarah-flanagan/3b/b56/868

Research grants

  • 2015 Diabetes, UK.
    Equipment Grant: Single tube diagnosis and classification of diabetes, £21,375
  • 2014 The Genetics Society
    One-off meeting sponsorship for Exeter Monogenic Diabetes Symposium £1000
  • 2014 Wellcome Trust and Royal Society
    Sir Henry Dale Fellowship: increase knowledge of underlying mechanisms of congenital hyperinsulinism £785,045
  • 2012 Marjorie Geoffrey Jones Charitable Trust
    Using next-generation sequencing to identify novel causes of hyperinsulinism with later onset diabetes £2000
  • 2011 Diabetes, UK.
    Equipment Grant: Liquid handling robot for studies defining novel genetic causes of neonatal diabetes and hyperinsulinism £19,995
  • 2011 Illumina
    Next Generation sequencing in patients with congenital hyperinsulinism £1750
  • 2008 The Genetics Society
    Heredity Fieldwork Grant, £1000

Key publications | Publications by category | Publications by year

Key publications


Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Lango Allen H, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract.  Author URL.  Full text.
Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Lango Allen H, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract.  Author URL.
De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDM Consortium, Hattersley AT, Ellard S (2013). GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62(3), 993-997. Abstract.  Author URL.
Flanagan SE, MacKay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: Expanding the clinical phenotype. Diabetologia, 56(1), 218-221.
Flanagan SE, Mackay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia, 56(1), 218-221. Author URL.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.

Publications by category


Journal articles

Ellard S, Flanagan SE, De Franco E, Lango Allen H, Zera M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, et al (In Press). Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Meatabolism Full text.
Hattersley AT, Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Flanagan SE, Ellard S (In Press). Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. Journal of Pediatric Endocrinoyl Metabolism Full text.
Johnson MB, De Franco E, Lango-Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Ullah I, et al (In Press). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes Full text.
Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S (2017). A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes, 18(4), 320-323. Abstract.  Author URL.
Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ (2017). Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol, 12(1). Abstract.  Author URL.
Galcheva S, Iotova V, Ellard S, Flanagan SE, Halvadzhiyan I, Petrova C, Hussain K (2017). 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, 30(4), 471-474. Abstract.  Author URL.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.
Day JO, Flanagan SE, Shepherd MH, Patrick AW, Abid N, Torrens L, Zeman AJ, Patel KA, Hattersley AT (2017). Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes. Diabetic Medicine, 34(7), 1000-1004. Full text.
Bowman P, Hattersley AT, Knight BA, Broadbridge E, Pettit L, Reville M, Flanagan SE, Shepherd MH, Ford TJ, Tonks J, et al (2017). Neuropsychological impairments in children with KCNJ11 neonatal diabetes. Diabet Med, 34(8), 1171-1173. Author URL.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell A-M, Brandli A, et al (2017). Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am Soc Nephrol Abstract.  Author URL.  Full text.
Ünal S, Gönülal D, Uçaktürk A, Bilgin BS, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, et al (2016). A novel homozygous mutation in the KCNJ11 gene of a neonate with congenital hyperinsulinism and successful management with sirolimus. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 8(4), 478-481. Abstract.
Güven A, Cebeci AN, Ellard S, Flanagan SE (2016). Clinical and genetic characteristics, management and long-term follow-up of turkish patients with congenital hyperinsulinism. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 8(2), 197-204.
Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M (2016). Clinical and genetic features of Argentinian children with diabetes-onset before 12 months of age: Successful transfer from insulin to oral sulfonylurea. Diabetes Research and Clinical Practice, 117, 104-110.
Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE (2016). Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Hormone Research in Paediatrics, 85(6), 421-425.
Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, et al (2016). Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Orphanet J Rare Dis, 11(1). Abstract.  Author URL.
Satapathy AK, Jain V, Ellard S, Flanagan SE (2016). Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings. Indian Pediatrics, 53(10), 912-913.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.  Full text.
Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ (2016). Low IgE is a Useful Tool to Identify STAT3 Gain-of-Function Mutations. Clin Chem, 62(11), 1536-1538. Author URL.  Full text.
Johnson MB, Hattersley AT, Flanagan SE (2016). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract.  Author URL.  Full text.
Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM (2016). Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Diabetologia, 59(7), 1430-1436. Abstract.  Author URL.  Full text.
Besser REJ, Flanagan SE, Mackay DGJ, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT (2016). Prematurity and Genetic Testing for Neonatal Diabetes. Pediatrics, 138(3). Abstract.  Author URL.  Full text.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (2016). Psychiatric morbidity in children with KCNJ11 neonatal diabetes. Diabet Med, 33(10), 1387-1391. Abstract.  Author URL.  Full text.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (2016). Specific psychiatric disorders can be identified using systematic assessment in patients with KCNJ11 neonatal diabetes. DIABETIC MEDICINE, 33, 172-173. Author URL.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (2016). Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia, 59(6), 1162-1166. Abstract.  Author URL.  Full text.
Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Full text.
Çamtosun E, Flanagan SE, Ellard S, Şıklar Z, Hussain K, Kocaay P, Berberoğlu M (2015). A deep intronic HADH splicing mutation (c.636+471G>T) in a congenital hyperinsulinemic hypoglycemia case: Long term clinical course. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 7(2), 144-147. Full text.
Harel S, Cohen ASA, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JBW, Van Karnebeek C, Kurata H, et al (2015). Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. Journal of Pediatric Endocrinology and Metabolism, 28(3-4), 345-351. Abstract.
Ramzan M, Flanagan SE, Ellard S, Yadav SP (2015). Anemia in a Child with Deafness: be Vigilant for a Rare Cause!. Indian Journal of Hematology and Blood Transfusion, 31(3), 394-395.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. European Journal of Human Genetics, 23(12), 1744-1748.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12). Author URL.
Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12), 1744-1748. Abstract.  Author URL.  Full text.
Demirbilek H, Arya VB, Ozbek MN, Houghton JAL, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, et al (2015). Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol, 172(6), 697-705. Abstract.  Author URL.  Full text.
Abraham MB, Shetty VB, Price G, Smith N, Bock MD, Siafarikas A, Resnick S, Whan E, Ellard S, Flanagan SE, et al (2015). Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia. Journal of Pediatric Endocrinology and Metabolism, 28(11-12), 1391-1398.
Senniappan S, Sadeghizadeh A, Flanagan SE, Ellard S, Hashemipour M, Hosseinzadeh M, Salehi M, Hussain K (2015). Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC Res Notes, 8 Abstract.  Author URL.  Full text.
Shi Y, Avatapalle HB, Skae MS, Padidela R, Newbould M, Rigby L, Flanagan SE, Ellard S, Rahier J, Clayton PE, et al (2015). Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. J Pediatr, 166(1), 191-194. Abstract.  Author URL.
Habeb AM, Deeb A, Johnson M, Abdullah M, Abdulrasoul M, Al-Awneh H, Al-Maghamsi MSF, Al-Murshedi F, Al-Saif R, Al-Sinani S, et al (2015). Liver disease and other comorbidities in Wolcott-Rallison syndrome: Different phenotype and variable associations in a large cohort. Hormone Research in Paediatrics, 83(3), 190-197. Full text.
Russell MA, Flanagan SE, Ellard S, Otonkoski T, Hattersley AT, Morgan NG (2015). Molecular investigation of the K392R mutant form of STAT3 found in a patient with early-onset autoimmune diabetes. DIABETIC MEDICINE, 32, 64-64. Author URL.
Khawash P, Hussain K, Flanagan SE, Chatterjee S, Basak D (2015). Nifedipine in Congenital Hyperinsulinism-A Case Report. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 7(2), 151-154. Author URL.  Full text.
Babiker O, Flanagan SE, Ellard S, Girim HA, Hussain K, Senniappan S (2015). Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. Journal of Pediatric Endocrinology and Metabolism, 28(9-10), 1073-1077.
Shah P, Arya VB, Flanagan SE, Morgan K, Ellard S, Senniappan S, Hussain K (2015). Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. Journal of Pediatric Endocrinology and Metabolism, 28(5-6), 695-699.
De Franco E, Flanagan SE, Houghton JAL, Allen HL, MacKay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. The Lancet, 386(9997), 957-963.
De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 386(9997), 957-963. Abstract.  Author URL.  Full text.
Çamtosun E, Şiklar Z, Kocaay P, Ceylaner S, Flanagan SE, Ellard S, Berberoʇlu M (2015). Three cases of Wolfram syndrome with different clinical aspects. Journal of Pediatric Endocrinology and Metabolism, 28(3-4), 433-438. Abstract.
Durmaz E, Flanagan SE, Parlak M, Ellard S, Akcurin S, Bircan I (2014). A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 6(2), 119-121. Abstract.  Full text.
Arya VB, Flanagan SE, Schober E, Rami-Merhar B, Ellard S, Hussain K (2014). Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. J Clin Endocrinol Metab, 99(2), 391-394. Abstract.  Author URL.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Lango Allen H, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract.  Author URL.  Full text.
Ramzan M, Flanagan SE, Ellard S, Yadav SP (2014). Anemia in a Child with Deafness: be Vigilant for a Rare Cause!. Indian Journal of Hematology and Blood Transfusion
Kalaivanan P, Arya VB, Shah P, Datta V, Flanagan SE, Mackay DJG, Ellard S, Senniappan S, Hussain K (2014). Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(11-12), 1065-1069. Author URL.
Arya VB, Guemes M, Nessa A, Alam S, Shah P, Gilbert C, Senniappan S, Flanagan SE, Ellard S, Hussain K, et al (2014). Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol, 171(6), 685-695. Abstract.  Author URL.
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, et al (2014). Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. Eur J Endocrinol, 170(6), 885-892. Abstract.  Author URL.
Ince DA, Sahin NM, Ecevit A, Kurt A, Kinik ST, Flanagan SE, Hussain K, Tarcan A (2014). Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(11-12), 1253-1255. Author URL.
Russell MA, Flanagan SE, Ellard S, Otonkoski T, Hattersley AT, Morgan NG (2014). Enhanced transcriptional activity of the K392R mutant form of STAT3 found in a patient with early onset diabetes is not fully dependent on phosphorylation of Tyrosine-705. DIABETOLOGIA, 57, S154-S155. Author URL.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, et al (2014). GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63(8), 2888-2894. Abstract.  Author URL.  Full text.
Arya VB, Rahman S, Senniappan S, Flanagan SE, Ellard S, Hussain K (2014). HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. Diabet Med, 31(3), e11-e15. Abstract.  Author URL.  Full text.
Demirbilek H, Shah P, Arya VB, Hinchey L, Flanagan SE, Ellard S, Hussain K (2014). Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. J Clin Endocrinol Metab, 99(10), 3660-3667. Abstract.  Author URL.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia Full text.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia, 57(11), 2421-2424.
Arya VB, Senniappan S, Demirbilek H, Alam S, Flanagan SE, Ellard S, Hussain K (2014). Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. PLoS One, 9(5). Abstract.  Author URL.  Full text.
Abujbara MA, Liswi MI, El-Khateeb MS, Flanagan SE, Ellard S, Ajlouni KM (2014). Permanent neonatal diabetes mellitus in Jordan. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(9-10), 879-883. Author URL.
Thewjitcharoen Y, Wanothayaroj E, Himathongkam T, Flanagan SE, Ellard S, Hattersley AT (2014). Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. Diabetes Research and Clinical Practice, 106(2), e22-e24. Abstract.
Thewjitcharoen Y, Wanothayaroj E, Himathongkam T, Flanagan SE, Ellard S, Hattersley AT (2014). Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. Diabetes Res Clin Pract, 106(2), e22-e24. Abstract.  Author URL.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H, et al (2014). Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet, 23(24), 6432-6440. Abstract.  Author URL.  Full text.
Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Lango Allen H, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract.  Author URL.
Mcglacken-Byrne SM, Hawkes CP, Flanagan SE, Ellard S, Mcdonnell CM, Murphy NP (2014). The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series. Diabetic Medicine, 31(1). Abstract.
Chakera AJ, Raimondo A, Homsen S, Colclough K, Barrett A, De-Franco E, Chatelas A, van de Bunt M, Flanagan SE, Hattersley AT, et al (2014). The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity. DIABETOLOGIA, 57, S155-S155. Author URL.
Catli G, Abaci A, Flanagan SE, De Franco E, Ellard S, Hattersley A, Guleryuz H, Bober E (2013). A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes and Metabolism, 39(4), 370-374. Abstract.
De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, et al (2013). Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency. Diabet Med, 30(5), e197-e200. Abstract.  Author URL.
Sayar E, Yilmaz A, Islek A, Elpek GO, Flanagan SE, Artan R (2013). Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea. J Pediatr Gastroenterol Nutr, 57(4). Author URL.
Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (2013). Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European Journal of Endocrinology, 168(4), 557-564. Abstract.
Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR (2013). Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Archives of Disease in Childhood: Fetal and Neonatal Edition, 98(4). Abstract.
Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR (2013). Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Archives of Disease in Childhood: Fetal and Neonatal Edition
Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JPH, Ennis S, et al (2013). Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. DIABETOLOGIA, 56(4), 758-762. Author URL.
Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JPH, Ennis S, et al (2013). Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia, 1-5.
Chakera AJ, Flanagan SE, Ellard S, Hattersley AT (2013). Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59. Diabetes Care, 36(2). Author URL.
Şimşek E, Binay C, Flanagan SE, Ellard S, Hussain K, Kabukçuoǧlu S (2013). Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra. Turkish Journal of Pediatrics, 55(6), 584-590. Abstract.
Sayar E, Islek A, Yilmaz A, Akcam M, Flanagan SE, Artan R (2013). Extremely rare cause of congenital diarrhea: Enteric anendocrinosis. Pediatrics International, 55(5), 661-663. Abstract.
De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDM Consortium, Hattersley AT, Ellard S (2013). GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62(3), 993-997. Abstract.  Author URL.
Calton EA, Temple IK, Mackay DJG, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC (2013). Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics
Calton EA, Temple IK, Mackay DJG, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC (2013). Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics, 56(2), 114-117. Abstract.
Flanagan SE, MacKay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: Expanding the clinical phenotype. Diabetologia, 56(1), 218-221.
Flanagan SE, Mackay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia, 56(1), 218-221. Author URL.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.  Author URL.  Full text.
Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S (2013). Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia. Human Mutation, 34(5), 669-685. Abstract.
Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S (2013). Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat, 34(5), 669-685. Abstract.  Author URL.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, et al (2013). Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. American Journal of Human Genetics, 92(1), 131-136. Abstract.  Full text.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, et al (2013). Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet, 92(1), 131-136. Abstract.  Author URL.
Chandran S, Peng FYK, Rajadurai VS, Lu YT, Chang KTE, Flanagan SE, Ellard S, Hussain K (2013). Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. Endocrinol Diabetes Metab Case Rep, 2013 Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, Anik A, Ellard S, Bober E (2013). Permanent neonatal diabetes caused by a novel mutation in the INS gene. DIABETES RESEARCH AND CLINICAL PRACTICE, 99(1), E5-E8. Author URL.
Khoriati D, Arya VB, Flanagan SE, Ellard S, Hussain K (2013). Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation. BMJ Case Reports Abstract.
Dua V, Yadav SP, Kumar V, Khan AA, Puri R, Verma IC, Flanagan SE, Ellard S, Sachdeva A (2013). Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest. Pediatric Blood and Cancer, 60(7), 1242-1243.
Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A (2013). Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatric Diabetes
Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A (2013). Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatric Diabetes, 14(5), 384-387. Abstract.
Boyraz M, Ulucan K, Taşkin N, Akçay T, Flanagan SE, Mackay DJG (2013). Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 5(2), 125-128. Abstract.
Fraser CS, Rubio-Cabezas O, Littlechild JA, Ellard S, Hattersley AT, Flanagan SE (2012). Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes. Eur J Endocrinol, 167(3), 417-421. Abstract.  Author URL.
Alves C, Flanagan SE, Ellard S, Mackay DJ (2012). Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. Diabetes Research and Clinical Practice, 97(3). Abstract.
Kapoor RR, Flanagan SE, Ellard S, Hussain K (2012). Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. Clin Endocrinol (Oxf), 76(2), 312-313. Author URL.
Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S (2012). Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia, 55(1), 123-127. Abstract.  Author URL.
Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S (2012). K ATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatric Diabetes, 13(4), 315-318. Abstract.
Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S (2012). KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatr Diabetes, 13(4), 322-325. Abstract.  Author URL.
Heslegrave AJ, Kapoor RR, Eaton S, Chadefaux B, Akcay T, Simsek E, Flanagan SE, Ellard S, Hussain K (2012). Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet Journal of Rare Diseases, 7(1). Abstract.
Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S (2012). Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes, 13(3), 285-289. Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, Anik A, Ellard S, Bober E (2012). Permanent neonatal diabetes caused by a novel mutation in the INS gene. Diabetes Research and Clinical Practice
Jain V, Flanagan SE, Ellard S (2012). Permanent neonatal diabetes caused by a novel mutation. Indian Pediatr, 49(6), 486-488. Abstract.  Author URL.
Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AAL, Mutair A, Hattersley AT, Hussain K, Ellard S, et al (2012). Permanent neonatal diabetes: Different aetiology in Arabs compared to Europeans. Archives of Disease in Childhood, 97(8), 721-723. Abstract.
Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, et al (2012). Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13(4), 307-314. Abstract.
Sansbury FH, Flanagan SE, Houghton JAL, Shuixian Shen FL, Al-Senani AMS, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT, et al (2012). SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia, 55(9), 2381-2385. Abstract.
Sansbury FH, Flanagan SE, Houghton JAL, Shuixian Shen FL, Al-Senani AMS, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT, et al (2012). SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia, 55(9), 2381-2385. Abstract.  Author URL.
Oztekin O, Durmaz E, Kalay S, Flanagan SE, Ellard S, Bircan I (2012). Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene. Journal of Perinatology, 32(8), 645-647. Abstract.
Ismail D, Kapoor RR, Smith VV, Ashworth M, Blankenstein O, Pierro A, Flanagan SE, Ellard S, Hussain K (2012). The heterogeneity of focal forms of congenital hyperinsulinism. J Clin Endocrinol Metab, 97(1), E94-E99. Abstract.  Author URL.
Finn RP, Flanagan SE, Chakera AJ, Hattersley AT (2012). The treatment of permanent neonatal diabetes secondary to Kir6.2 mutations with sulphonylureas: 5 year follow-up study. DIABETOLOGIA, 55, S28-S28. Author URL.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (European Journal of Endocrinology (2011) 164 (919-926)). European Journal of Endocrinology, 165(3), 485-486.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (vol 164, pg 919, 2011). EUROPEAN JOURNAL OF ENDOCRINOLOGY, 165(3), 485-486. Author URL.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. Eur J Endocrinol, 164(6), 919-926. Abstract.  Author URL.
Ocal G, Flanagan SE, Hacihamdioglu B, Berberoglu M, Siklar Z, Ellard S, Erdeve SS, Okulu E, Akin IM, Atasay B, et al (2011). Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 24(11-12), 1019-1023. Author URL.
Thakur S, Flanagan SE, Ellard S, Verma IC (2011). Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene. Indian Pediatr, 48(9), 733-734. Abstract.  Author URL.
Hoertenhuber T, Fritsch M, Berger G, Flanagan SE, Ellard S, Schober E (2011). Diabetes in the 4th month of Life - a rare Case of permanent neonatal Diabetes mellitus. WIENER KLINISCHE WOCHENSCHRIFT, 123, S16-S17. Author URL.
Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S (2011). Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. Clin Genet, 79(6), 582-587. Abstract.  Author URL.
Ismail D, Smith VV, de Lonlay P, Ribeiro M-J, Rahier J, Blankenstein O, Flanagan SE, Bellanne-Chantelot C, Verkarre V, Aigrain Y, et al (2011). Familial Focal Congenital Hyperinsulinism. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 96(1), 24-28. Author URL.
Ismail D, Smith VV, de Lonlay P, Ribeiro M-J, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, et al (2011). Familial focal congenital hyperinsulinism. J Clin Endocrinol Metab, 96(1), 24-28. Abstract.  Author URL.
Lango Allen H, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract.  Author URL.
Flanagan SE, Kapoor RR, Hussain K (2011). Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg, 20(1), 13-17. Abstract.  Author URL.
Flanagan SE, Patch A-M, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, et al (2011). Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab, 96(3), E498-E502. Abstract.  Author URL.
Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K, et al (2011). Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia, 54(10), 2575-2583. Abstract.  Full text.
Powell PD, Bellanné-Chantelot C, Flanagan SE, Ellard S, Rooman R, Hussain K, Skae M, Clayton P, De Lonlay P, Dunne MJ, et al (2011). In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. Diabetes, 60(4), 1223-1228. Abstract.
Minton JAL, Flanagan SE, Ellard S (2011). Mutation surveyor: software for DNA sequence analysis. Methods Mol Biol, 688, 143-153. Abstract.  Author URL.
Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM (2011). Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the K<inf>ATP</inf> channel can result in either hyperinsulinism or neonatal diabetes. Diabetes, 60(6), 1813-1822. Abstract.
Flanagan SE, Kapoor RR, Smith VV, Hussain K, Ellard S (2011). Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia. Front Endocrinol (Lausanne), 2 Abstract.  Author URL.
Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, et al (2011). The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol, 164(5), 733-740. Abstract.  Author URL.
Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K (2010). Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks. Hormone Research in Paediatrics, 73(4), 287-292. Abstract.
Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, et al (2010). Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol, 162(5), 987-992. Abstract.  Author URL.  Full text.
Grulich-Henn J, Wagner V, Thon A, Schober E, Marg W, Kapellen TM, Haberland H, Raile K, Ellard S, Flanagan SE, et al (2010). Entities and frequency of neonatal diabetes: Data from the diabetes documentation and quality management system (DPV). Diabetic Medicine, 27(6), 709-712. Abstract.
Padidela R, Kapoor RR, Moyo Y, Gilbert C, Flanagan SE, Ellard S, Hussain K (2010). Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. Nature Reviews Endocrinology, 6(11), 646-650. Abstract.
Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl L-B, Hattersley AT, et al (2010). Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes, 11(1), 18-23. Abstract.  Author URL.
Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM (2010). Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. Human Molecular Genetics, 19(6), 963-972. Abstract.
Oram RA, Edghill EL, Blackman J, Taylor MJO, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, et al (2010). Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol, 203(4), 364.e1-364.e5. Abstract.  Author URL.
Carroll A, Mc Donnell C, Moloney S, Flanagan SE, Monavari A, Ellard S, Murphy NP (2010). PRESENTATION, CLINICAL AND GENETIC OUTCOMES IN a SERIES OF INFANTS WITH CONGENITAL HYPERINSULINISM. PEDIATRIC RESEARCH, 68, 545-546. Author URL.
Edghill EL, Flanagan SE, Ellard S (2010). Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord, 11(3), 193-198. Abstract.  Author URL.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, et al (2010). Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America, 107(7), 3105-3110. Abstract.
Edghill EL, Minton JAL, Groves CJ, Flanagan SE, Patch A-M, Rubio-Cabezas O, Shepherd M, Lenzen S, McCarthy MI, Ellard S, et al (2010). Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP, 11(1), 14-17. Abstract.  Author URL.
Flanagan SE, Patch A-M, Ellard S (2010). Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers, 14(4), 533-537. Abstract.  Author URL.
Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K (2009). 3-Hydroxyacyl-coenzyme a dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab, 94(7), 2221-2225. Abstract.  Author URL.
Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CAJ, Petz O, Mannikko R, Kapoor RR, Hussain K, et al (2009). Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med(1), 166-177. Full text.
Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM (2009). An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1. J Clin Endocrinol Metab, 94(7), 2551-2557. Abstract.  Author URL.
Kapoor RR, Flanagan SE, Shield JP, Sian E, Hussain K (2009). Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. HORMONE RESEARCH, 72, 38-38. Author URL.
Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K (2009). Familial post prandial hyperinsulinaemic hypoglycaemia. HORMONE RESEARCH, 72, 299-299. Author URL.
Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K (2009). Hyperinsulinaemic hypoglycaemia. Arch Dis Child, 94(6), 450-457. Abstract.  Author URL.
Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Banerjee I, Shield JP, Ellard S, Hussain K (2009). Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. HORMONE RESEARCH, 72, 298-298. Author URL.
Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, Hussain K, et al (2009). Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol, 161(5), 731-735. Abstract.  Author URL.
Klupa T, Kowalska I, Wyka K, Skupien J, Patch A-M, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, et al (2009). Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype. Clin Endocrinol (Oxf), 71(3), 358-362. Abstract.  Author URL.
Kapoor RR, Flanagan SE, Mali G, Shield JP, Hussain K, Ellard S (2009). Prevalence of HNF4A gene mutations in patients with diazoxide responsive hyperinsulinism. HORMONE RESEARCH, 72, 299-299. Author URL.
Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S, et al (2009). Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia, 52(8), 1683-1685. Author URL.  Full text.
Kumaraguru J, Flanagan SE, Greeley SAW, Nuboer R, Støy J, Philipson LH, Hattersley AT, Rubio-Cabezas O (2009). Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care, 32(8), 1428-1430. Abstract.  Author URL.  Full text.
Wagner VM, Kremke B, Hiort O, Flanagan SE, Pearson ER (2009). Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy. Eur J Pediatr, 168(3), 359-361. Abstract.  Author URL.
Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S (2009). Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat, 30(2), 170-180. Abstract.  Author URL.
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, et al (2009). Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab
Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM, et al (2008). A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications. Diabetologia, 51(5), 802-810. Abstract.  Author URL.  Full text.
de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MSP, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM (2008). A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. EMBO Rep, 9(7), 648-654. Abstract.  Author URL.
Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S (2008). An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes, 57(1), 259-263. Abstract.  Author URL.
Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, et al (2008). Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. Diabetes Care, 31(9), 1736-1737. Abstract.  Author URL.
Rafiq M, Flanagan SE, Patch A-M, Shields BM, Ellard S, Hattersley AT, Neonatal Diabetes International Collaborative Group (2008). Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31(2), 204-209. Abstract.  Author URL.
Edghill EL, Flanagan SE, Patch A-M, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, et al (2008). Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57(4), 1034-1042. Abstract.  Author URL.
Shield JPH, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S (2008). Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes, 57(1), 255-258. Abstract.  Author URL.
Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn A-L, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2008). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007). DIABETES, 57(2), 523-523. Author URL.
Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M (2008). Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med, 25(3), 277-281. Abstract.  Author URL.
Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F (2007). A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology, 69(13), 1342-1349. Abstract.  Author URL.
de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch A-M, Flanagan SE, Ellard S, Hattersley AT, Sansom MSP, Ashcroft FM, et al (2007). Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proc Natl Acad Sci U S A, 104(48), 18988-18992. Abstract.  Author URL.
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, et al (2007). Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A, 104(38), 15040-15044. Abstract.  Author URL.
Jenkins D, Bitner-Glindzicz M, Thomasson L, Malcolm S, Warne SA, Feather SA, Flanagan SE, Ellard S, Bingham C, Santos L, et al (2007). Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. J Pediatr Urol, 3(1), 2-9. Abstract.  Author URL.
Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2007). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56(7), 1930-1937. Abstract.  Author URL.
Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, Rankin J, Hattersley AT, Ellard S (2007). Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab, 92(5), 1773-1777. Abstract.  Author URL.
Ellard S, Flanagan SE, Girard CA, Patch A-M, Harries LW, Parrish A, Edghill EL, Mackay DJG, Proks P, Shimomura K, et al (2007). Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet, 81(2), 375-382. Abstract.  Author URL.
Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, et al (2007). Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab, 92(4), 1276-1282. Abstract.  Author URL.
Codner E, Flanagan SE, Ugarte F, García H, Vidal T, Ellard S, Hattersley AT (2007). Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days. Diabetes Care, 30(5), e28-e29. Author URL.
Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S, et al (2006). A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet, 15(11), 1793-1800. Abstract.  Author URL.
Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM (2006). HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes, 55(6), 1895-1898. Abstract.  Author URL.
Jenkins D, Bitner-Glindzicz M, Malcolm S, Allison J, Flanagan SE, de Bruyn R, Thomas DF, Belk RA, Feather SA, Bingham C, et al (2006). Mutation analyses of Uroplakin II in children with renal tract malformations. Nephrol Dial Transplant, 21(12), 3415-3421.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT (2006). Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia, 49(6), 1190-1197. Abstract.  Author URL.
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, et al (2006). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med, 355(5), 467-477. Abstract.  Author URL.
Codner E, Flanagan SE, Ellard S, Garcia H, Hattersley AT (2005). High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care, 28(3), 758-759.
John H, Flanagan SE, Corrall R, Hattersley AT, Ellard S, Sheppherd M (2005). Neonatal diabetes is more than just a paediatric problem: 57 years of diabetes from a Kir6.2 mutation. Pract Diab Int, 22

Chapters

Flanagan SE, Ellard S (2008). Identification of mutations in the Kir6.2 subunit of the K(ATP) channel. In  (Ed) , 235-245.  Abstract.  Author URL.

Conferences

Bowman P, Shepherd MH, Babiker T, Flanagan SE, Houghton JAL, Mathews F, Patel KA, Thomas NJ, Ellard S, Hattersley AT, et al (2017). Sulphonylureas are a highly effective long-term treatment for KCNJ11 neonatal diabetes: the first 10 year follow-up study of a large international cohort.  Author URL.
Yildiz M, Akcay T, Mutlu N, Akgun A, Onal H, Ulucan K, Ellard S, Flanagan SE (2016). Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: a Single-Center Experience.  Author URL.
Vu D, Dang AD, Bui PT, can TBN, Nguyen NK, Nguyen PD, Tran MD, Flanagan SE, Ellard S (2016). Genotype and Phenotype of 99 Vietnamese Patients with Congenital Hyperinsulinism.  Author URL.
Elkaffas R, Musa N, De Franco E, Madani HA, Shaalan Y, El-Kaffas RMH, Hassan M, Hafez M, El Kholi B, Flanagan SE, et al (2016). The Genetic Causes and Phenotypic Characteristics of Egyptian Patients with Neonatal Diabetes Mellitus.  Author URL.
Al Qayoodhi A, Hambleton S, Hattersley AT, Cant AJ, Flanagan SE, Engelhardt K, Swan D, Willet J, Xu Y, Koref MS, et al (2015). Autoimmunity in STAT3 Gain of Function Mutations; Broadening the Phenotype.  Author URL.
Flanagan SE, Haapaniemi E, Russell MA, McDonald TJ, Barton J, Murphy NP, Seppanen M, Milenkovic T, Heiskanen K, Lernmark A, et al (2014). A novel syndrome of early-onset type 1 diabetes and multi-organ autoimmunity caused by activating germline mutations in STAT3.  Author URL.
Sansbury F, Caswell R, Allen HL, Flanagan SE, Kirel B, Ellard S, Hattersley AT (2012). Biallelic RFX6 inactivation can cause intestinal atresia with childhood rather than neonatal onset diabetes.  Author URL.
Sansbury FH, Flanagan SE, Houghton JAL, Young E, Shen FLS, Al-Sinani S, Kariminejad A, Habeb AM, Abdullah MA, Ellard S, et al (2011). New insights into genetic causes of neonatal diabetes mellitus: SLC2A2 mutations can cause neonatal diabetes prior to the appearance of Fanconi-Bickel syndrome.  Author URL.
Ellard S, Edghill EL, Locke J, Flanagan SE, Patch AM, Harries LW, Hattersley AT (2008). Both recessive and dominant INS gene mutations are a common cause of neonatal diabetes.  Author URL.
Edghill EL, Locke J, Flanagan SE, Patch A-M, Harries LW, Ellard S, Hattersley AT (2008). Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees.  Author URL.
Tarasov AI, Girard CA, Larkin B, Tammaro P, Flanagan SE, Ellard S, Ashcroft FM (2007). Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.  Abstract.  Author URL.
Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S (2007). Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.  Abstract.  Author URL.
Slingerland AS, Flanagan SE, Shields B, Patch A-M, Bruining GJ, Noordam K, Cinek O, Malecki M, Gach A, Mlynarski W, et al (2007). Prevalence and incidence of neonatal diabetes in children and adults in the largest international series: increased interest, extended definition, continued misclassification?.  Author URL.

Publications by year


In Press

Ellard S, Flanagan SE, De Franco E, Lango Allen H, Zera M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, et al (In Press). Analysis of transcription factors central for mouse pancreatic development establish NKX2-2 and MNX1 mutations as novel causes of neonatal diabetes in man. Cell Meatabolism Full text.
Hattersley AT, Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Flanagan SE, Ellard S (In Press). Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. Journal of Pediatric Endocrinoyl Metabolism Full text.
Johnson MB, De Franco E, Lango-Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Ullah I, et al (In Press). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes Full text.

2017

Flanagan SE, Vairo F, Johnson MB, Caswell R, Laver TW, Lango Allen H, Hussain K, Ellard S (2017). A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. Pediatr Diabetes, 18(4), 320-323. Abstract.  Author URL.
Yau D, De Franco E, Flanagan SE, Ellard S, Blumenkrantz M, Mitchell JJ (2017). Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. Diagn Pathol, 12(1). Abstract.  Author URL.
Galcheva S, Iotova V, Ellard S, Flanagan SE, Halvadzhiyan I, Petrova C, Hussain K (2017). 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, 30(4), 471-474. Abstract.  Author URL.
De Franco E, Flanagan SE, Yagi T, Abreu D, Mahadevan J, Johnson MB, Jones G, Acosta F, Mulaudzi M, Lek N, et al (2017). Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts. Diabetes, 66(7), 2044-2053. Abstract.  Author URL.
Day JO, Flanagan SE, Shepherd MH, Patrick AW, Abid N, Torrens L, Zeman AJ, Patel KA, Hattersley AT (2017). Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes. Diabetic Medicine, 34(7), 1000-1004. Full text.
Bowman P, Hattersley AT, Knight BA, Broadbridge E, Pettit L, Reville M, Flanagan SE, Shepherd MH, Ford TJ, Tonks J, et al (2017). Neuropsychological impairments in children with KCNJ11 neonatal diabetes. Diabet Med, 34(8), 1171-1173. Author URL.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell A-M, Brandli A, et al (2017). Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am Soc Nephrol Abstract.  Author URL.  Full text.
Bowman P, Shepherd MH, Babiker T, Flanagan SE, Houghton JAL, Mathews F, Patel KA, Thomas NJ, Ellard S, Hattersley AT, et al (2017). Sulphonylureas are a highly effective long-term treatment for KCNJ11 neonatal diabetes: the first 10 year follow-up study of a large international cohort.  Author URL.

2016

Ünal S, Gönülal D, Uçaktürk A, Bilgin BS, Flanagan SE, Gürbüz F, Tayfun M, Elmaoğulları S, Araslı A, Demirel F, et al (2016). A novel homozygous mutation in the KCNJ11 gene of a neonate with congenital hyperinsulinism and successful management with sirolimus. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 8(4), 478-481. Abstract.
Yildiz M, Akcay T, Mutlu N, Akgun A, Onal H, Ulucan K, Ellard S, Flanagan SE (2016). Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: a Single-Center Experience.  Author URL.
Güven A, Cebeci AN, Ellard S, Flanagan SE (2016). Clinical and genetic characteristics, management and long-term follow-up of turkish patients with congenital hyperinsulinism. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 8(2), 197-204.
Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M (2016). Clinical and genetic features of Argentinian children with diabetes-onset before 12 months of age: Successful transfer from insulin to oral sulfonylurea. Diabetes Research and Clinical Practice, 117, 104-110.
Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE (2016). Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Hormone Research in Paediatrics, 85(6), 421-425.
Salomon-Estebanez M, Flanagan SE, Ellard S, Rigby L, Bowden L, Mohamed Z, Nicholson J, Skae M, Hall C, Craigie R, et al (2016). Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Orphanet J Rare Dis, 11(1). Abstract.  Author URL.
Vu D, Dang AD, Bui PT, can TBN, Nguyen NK, Nguyen PD, Tran MD, Flanagan SE, Ellard S (2016). Genotype and Phenotype of 99 Vietnamese Patients with Congenital Hyperinsulinism.  Author URL.
Satapathy AK, Jain V, Ellard S, Flanagan SE (2016). Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings. Indian Pediatrics, 53(10), 912-913.
Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract.  Author URL.  Full text.
Johnson MB, Flanagan SE, Martins TB, Hill HR, Hattersley AT, McDonald TJ (2016). Low IgE is a Useful Tool to Identify STAT3 Gain-of-Function Mutations. Clin Chem, 62(11), 1536-1538. Author URL.  Full text.
Johnson MB, Hattersley AT, Flanagan SE (2016). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract.  Author URL.  Full text.
Vedovato N, Cliff E, Proks P, Poovazhagi V, Flanagan SE, Ellard S, Hattersley AT, Ashcroft FM (2016). Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Diabetologia, 59(7), 1430-1436. Abstract.  Author URL.  Full text.
Besser REJ, Flanagan SE, Mackay DGJ, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT (2016). Prematurity and Genetic Testing for Neonatal Diabetes. Pediatrics, 138(3). Abstract.  Author URL.  Full text.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (2016). Psychiatric morbidity in children with KCNJ11 neonatal diabetes. Diabet Med, 33(10), 1387-1391. Abstract.  Author URL.  Full text.
Bowman P, Broadbridge E, Knight BA, Pettit L, Flanagan SE, Reville M, Tonks J, Shepherd MH, Ford TJ, Hattersley AT, et al (2016). Specific psychiatric disorders can be identified using systematic assessment in patients with KCNJ11 neonatal diabetes. DIABETIC MEDICINE, 33, 172-173. Author URL.
Babiker T, Vedovato N, Patel K, Thomas N, Finn R, Männikkö R, Chakera AJ, Flanagan SE, Shepherd MH, Ellard S, et al (2016). Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. Diabetologia, 59(6), 1162-1166. Abstract.  Author URL.  Full text.
Elkaffas R, Musa N, De Franco E, Madani HA, Shaalan Y, El-Kaffas RMH, Hassan M, Hafez M, El Kholi B, Flanagan SE, et al (2016). The Genetic Causes and Phenotypic Characteristics of Egyptian Patients with Neonatal Diabetes Mellitus.  Author URL.
Patel KA, Oram RA, Flanagan SE, De Franco E, Colclough K, Shepherd M, Ellard S, Weedon MN, Hattersley AT (2016). Type 1 Diabetes Genetic Risk Score: a Novel Tool to Discriminate Monogenic and Type 1 Diabetes. Diabetes, 65(7), 2094-2099. Full text.

2015

Çamtosun E, Flanagan SE, Ellard S, Şıklar Z, Hussain K, Kocaay P, Berberoğlu M (2015). A deep intronic HADH splicing mutation (c.636+471G&gt;T) in a congenital hyperinsulinemic hypoglycemia case: Long term clinical course. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 7(2), 144-147. Full text.
Harel S, Cohen ASA, Hussain K, Flanagan SE, Schlade-Bartusiak K, Patel M, Courtade J, Li JBW, Van Karnebeek C, Kurata H, et al (2015). Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture. Journal of Pediatric Endocrinology and Metabolism, 28(3-4), 345-351. Abstract.
Ramzan M, Flanagan SE, Ellard S, Yadav SP (2015). Anemia in a Child with Deafness: be Vigilant for a Rare Cause!. Indian Journal of Hematology and Blood Transfusion, 31(3), 394-395.
Al Qayoodhi A, Hambleton S, Hattersley AT, Cant AJ, Flanagan SE, Engelhardt K, Swan D, Willet J, Xu Y, Koref MS, et al (2015). Autoimmunity in STAT3 Gain of Function Mutations; Broadening the Phenotype.  Author URL.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. European Journal of Human Genetics, 23(12), 1744-1748.
Sansbury FH, Kirel B, Caswell R, Lango Allen H, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12). Author URL.
Sansbury FH, Kirel B, Caswell R, Allen HL, Flanagan SE, Hattersley AT, Ellard S, Shaw-Smith CJ (2015). Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. Eur J Hum Genet, 23(12), 1744-1748. Abstract.  Author URL.  Full text.
Demirbilek H, Arya VB, Ozbek MN, Houghton JAL, Baran RT, Akar M, Tekes S, Tuzun H, Mackay DJ, Flanagan SE, et al (2015). Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. Eur J Endocrinol, 172(6), 697-705. Abstract.  Author URL.  Full text.
Abraham MB, Shetty VB, Price G, Smith N, Bock MD, Siafarikas A, Resnick S, Whan E, Ellard S, Flanagan SE, et al (2015). Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia. Journal of Pediatric Endocrinology and Metabolism, 28(11-12), 1391-1398.
Senniappan S, Sadeghizadeh A, Flanagan SE, Ellard S, Hashemipour M, Hosseinzadeh M, Salehi M, Hussain K (2015). Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia. BMC Res Notes, 8 Abstract.  Author URL.  Full text.
Shi Y, Avatapalle HB, Skae MS, Padidela R, Newbould M, Rigby L, Flanagan SE, Ellard S, Rahier J, Clayton PE, et al (2015). Increased plasma incretin concentrations identifies a subset of patients with persistent congenital hyperinsulinism without KATP channel gene defects. J Pediatr, 166(1), 191-194. Abstract.  Author URL.
Habeb AM, Deeb A, Johnson M, Abdullah M, Abdulrasoul M, Al-Awneh H, Al-Maghamsi MSF, Al-Murshedi F, Al-Saif R, Al-Sinani S, et al (2015). Liver disease and other comorbidities in Wolcott-Rallison syndrome: Different phenotype and variable associations in a large cohort. Hormone Research in Paediatrics, 83(3), 190-197. Full text.
Russell MA, Flanagan SE, Ellard S, Otonkoski T, Hattersley AT, Morgan NG (2015). Molecular investigation of the K392R mutant form of STAT3 found in a patient with early-onset autoimmune diabetes. DIABETIC MEDICINE, 32, 64-64. Author URL.
Khawash P, Hussain K, Flanagan SE, Chatterjee S, Basak D (2015). Nifedipine in Congenital Hyperinsulinism-A Case Report. JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 7(2), 151-154. Author URL.  Full text.
Babiker O, Flanagan SE, Ellard S, Girim HA, Hussain K, Senniappan S (2015). Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. Journal of Pediatric Endocrinology and Metabolism, 28(9-10), 1073-1077.
Shah P, Arya VB, Flanagan SE, Morgan K, Ellard S, Senniappan S, Hussain K (2015). Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. Journal of Pediatric Endocrinology and Metabolism, 28(5-6), 695-699.
De Franco E, Flanagan SE, Houghton JAL, Allen HL, MacKay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. The Lancet, 386(9997), 957-963.
De Franco E, Flanagan SE, Houghton JAL, Lango Allen H, Mackay DJG, Temple IK, Ellard S, Hattersley AT (2015). The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. Lancet, 386(9997), 957-963. Abstract.  Author URL.  Full text.
Çamtosun E, Şiklar Z, Kocaay P, Ceylaner S, Flanagan SE, Ellard S, Berberoʇlu M (2015). Three cases of Wolfram syndrome with different clinical aspects. Journal of Pediatric Endocrinology and Metabolism, 28(3-4), 433-438. Abstract.

2014

Durmaz E, Flanagan SE, Parlak M, Ellard S, Akcurin S, Bircan I (2014). A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 6(2), 119-121. Abstract.  Full text.
Flanagan SE, Haapaniemi E, Russell MA, McDonald TJ, Barton J, Murphy NP, Seppanen M, Milenkovic T, Heiskanen K, Lernmark A, et al (2014). A novel syndrome of early-onset type 1 diabetes and multi-organ autoimmunity caused by activating germline mutations in STAT3.  Author URL.
Arya VB, Flanagan SE, Schober E, Rami-Merhar B, Ellard S, Hussain K (2014). Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. J Clin Endocrinol Metab, 99(2), 391-394. Abstract.  Author URL.
Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Lango Allen H, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract.  Author URL.  Full text.
Ramzan M, Flanagan SE, Ellard S, Yadav SP (2014). Anemia in a Child with Deafness: be Vigilant for a Rare Cause!. Indian Journal of Hematology and Blood Transfusion
Kalaivanan P, Arya VB, Shah P, Datta V, Flanagan SE, Mackay DJG, Ellard S, Senniappan S, Hussain K (2014). Chromosome 6q24 transient neonatal diabetes mellitus and protein sensitive hyperinsulinaemic hypoglycaemia. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(11-12), 1065-1069. Author URL.
Arya VB, Guemes M, Nessa A, Alam S, Shah P, Gilbert C, Senniappan S, Flanagan SE, Ellard S, Hussain K, et al (2014). Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations. Eur J Endocrinol, 171(6), 685-695. Abstract.  Author URL.
Demirbilek H, Arya VB, Ozbek MN, Akinci A, Dogan M, Demirel F, Houghton J, Kaba S, Guzel F, Baran RT, et al (2014). Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations. Eur J Endocrinol, 170(6), 885-892. Abstract.  Author URL.
Ince DA, Sahin NM, Ecevit A, Kurt A, Kinik ST, Flanagan SE, Hussain K, Tarcan A (2014). Congenital hyperinsulinism in a newborn with a novel homozygous mutation (p.Q392H) in the ABCC8 gene. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(11-12), 1253-1255. Author URL.
Russell MA, Flanagan SE, Ellard S, Otonkoski T, Hattersley AT, Morgan NG (2014). Enhanced transcriptional activity of the K392R mutant form of STAT3 found in a patient with early onset diabetes is not fully dependent on phosphorylation of Tyrosine-705. DIABETOLOGIA, 57, S154-S155. Author URL.
Shaw-Smith C, De Franco E, Lango Allen H, Batlle M, Flanagan SE, Borowiec M, Taplin CE, van Alfen-van der Velden J, Cruz-Rojo J, Perez de Nanclares G, et al (2014). GATA4 mutations are a cause of neonatal and childhood-onset diabetes. Diabetes, 63(8), 2888-2894. Abstract.  Author URL.  Full text.
Arya VB, Rahman S, Senniappan S, Flanagan SE, Ellard S, Hussain K (2014). HNF4A mutation: switch from hyperinsulinaemic hypoglycaemia to maturity-onset diabetes of the young, and incretin response. Diabet Med, 31(3), e11-e15. Abstract.  Author URL.  Full text.
Demirbilek H, Shah P, Arya VB, Hinchey L, Flanagan SE, Ellard S, Hussain K (2014). Long-term follow-up of children with congenital hyperinsulinism on octreotide therapy. J Clin Endocrinol Metab, 99(10), 3660-3667. Abstract.  Author URL.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia Full text.
Rubio-Cabezas O, Codner E, Flanagan SE, Gómez JL, Ellard S, Hattersley AT (2014). Neurogenin 3 is important but not essential for pancreatic islet development in humans. Diabetologia, 57(11), 2421-2424.
Arya VB, Senniappan S, Demirbilek H, Alam S, Flanagan SE, Ellard S, Hussain K (2014). Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism. PLoS One, 9(5). Abstract.  Author URL.  Full text.
Abujbara MA, Liswi MI, El-Khateeb MS, Flanagan SE, Ellard S, Ajlouni KM (2014). Permanent neonatal diabetes mellitus in Jordan. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27(9-10), 879-883. Author URL.
Thewjitcharoen Y, Wanothayaroj E, Himathongkam T, Flanagan SE, Ellard S, Hattersley AT (2014). Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. Diabetes Research and Clinical Practice, 106(2), e22-e24. Abstract.
Thewjitcharoen Y, Wanothayaroj E, Himathongkam T, Flanagan SE, Ellard S, Hattersley AT (2014). Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis. Diabetes Res Clin Pract, 106(2), e22-e24. Abstract.  Author URL.
Raimondo A, Chakera AJ, Thomsen SK, Colclough K, Barrett A, De Franco E, Chatelas A, Demirbilek H, Akcay T, Alawneh H, et al (2014). Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet, 23(24), 6432-6440. Abstract.  Author URL.  Full text.
Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Lango Allen H, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract.  Author URL.
Mcglacken-Byrne SM, Hawkes CP, Flanagan SE, Ellard S, Mcdonnell CM, Murphy NP (2014). The evolving course of HNF4A hyperinsulinaemic hypoglycaemia-a case series. Diabetic Medicine, 31(1). Abstract.
Chakera AJ, Raimondo A, Homsen S, Colclough K, Barrett A, De-Franco E, Chatelas A, van de Bunt M, Flanagan SE, Hattersley AT, et al (2014). The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity. DIABETOLOGIA, 57, S155-S155. Author URL.

2013

Catli G, Abaci A, Flanagan SE, De Franco E, Ellard S, Hattersley A, Guleryuz H, Bober E (2013). A novel GATA6 mutation leading to congenital heart defects and permanent neonatal diabetes: a case report. Diabetes and Metabolism, 39(4), 370-374. Abstract.
De Franco E, Shaw-Smith C, Flanagan SE, Edghill EL, Wolf J, Otte V, Ebinger F, Varthakavi P, Vasanthi T, Edvardsson S, et al (2013). Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency. Diabet Med, 30(5), e197-e200. Abstract.  Author URL.
Sayar E, Yilmaz A, Islek A, Elpek GO, Flanagan SE, Artan R (2013). Chromogranin-A staining reveals enteric anendocrinosis in unexplained congenital diarrhea. J Pediatr Gastroenterol Nutr, 57(4). Author URL.
Kapoor RR, Flanagan SE, Arya VB, Shield JP, Ellard S, Hussain K (2013). Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. European Journal of Endocrinology, 168(4), 557-564. Abstract.
Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR (2013). Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Archives of Disease in Childhood: Fetal and Neonatal Edition, 98(4). Abstract.
Arya VB, Flanagan SE, Kumaran A, Shield JP, Ellard S, Hussain K, Kapoor RR (2013). Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age. Archives of Disease in Childhood: Fetal and Neonatal Edition
Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JPH, Ennis S, et al (2013). Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. DIABETOLOGIA, 56(4), 758-762. Author URL.
Docherty LE, Kabwama S, Lehmann A, Hawke E, Harrison L, Flanagan SE, Ellard S, Hattersley AT, Shield JPH, Ennis S, et al (2013). Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia, 1-5.
Chakera AJ, Flanagan SE, Ellard S, Hattersley AT (2013). Comment on: Khurana et al. The diagnosis of neonatal diabetes in a mother at 25 years of age. Diabetes Care 2012;35:e59. Diabetes Care, 36(2). Author URL.
Şimşek E, Binay C, Flanagan SE, Ellard S, Hussain K, Kabukçuoǧlu S (2013). Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra. Turkish Journal of Pediatrics, 55(6), 584-590. Abstract.
Sayar E, Islek A, Yilmaz A, Akcam M, Flanagan SE, Artan R (2013). Extremely rare cause of congenital diarrhea: Enteric anendocrinosis. Pediatrics International, 55(5), 661-663. Abstract.
De Franco E, Shaw-Smith C, Flanagan SE, Shepherd MH, International NDM Consortium, Hattersley AT, Ellard S (2013). GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiency. Diabetes, 62(3), 993-997. Abstract.  Author URL.
Calton EA, Temple IK, Mackay DJG, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC (2013). Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics
Calton EA, Temple IK, Mackay DJG, Lever M, Ellard S, Flanagan SE, Davies JH, Hussain K, Gray JC (2013). Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics, 56(2), 114-117. Abstract.
Flanagan SE, MacKay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: Expanding the clinical phenotype. Diabetologia, 56(1), 218-221.
Flanagan SE, Mackay DJG, Greeley SAW, McDonald TJ, Mericq V, Hassing J, Richmond EJ, Martin WR, Acerini C, Kaulfers AM, et al (2013). Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia, 56(1), 218-221. Author URL.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.
Ellard S, Lango Allen H, De Franco E, Flanagan SE, Hysenaj G, Colclough K, Houghton JAL, Shepherd M, Hattersley AT, Weedon MN, et al (2013). Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. Diabetologia, 56(9), 1958-1963. Abstract.  Author URL.  Full text.
Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S (2013). Mutations in the Genes Encoding the Transcription Factors Hepatocyte Nuclear Factor 1 Alpha and 4 Alpha in Maturity-Onset Diabetes of the Young and Hyperinsulinemic Hypoglycemia. Human Mutation, 34(5), 669-685. Abstract.
Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S (2013). Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat, 34(5), 669-685. Abstract.  Author URL.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, et al (2013). Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. American Journal of Human Genetics, 92(1), 131-136. Abstract.  Full text.
Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, et al (2013). Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation. Am J Hum Genet, 92(1), 131-136. Abstract.  Author URL.
Chandran S, Peng FYK, Rajadurai VS, Lu YT, Chang KTE, Flanagan SE, Ellard S, Hussain K (2013). Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism. Endocrinol Diabetes Metab Case Rep, 2013 Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, Anik A, Ellard S, Bober E (2013). Permanent neonatal diabetes caused by a novel mutation in the INS gene. DIABETES RESEARCH AND CLINICAL PRACTICE, 99(1), E5-E8. Author URL.
Khoriati D, Arya VB, Flanagan SE, Ellard S, Hussain K (2013). Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation. BMJ Case Reports Abstract.
Dua V, Yadav SP, Kumar V, Khan AA, Puri R, Verma IC, Flanagan SE, Ellard S, Sachdeva A (2013). Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest. Pediatric Blood and Cancer, 60(7), 1242-1243.
Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A (2013). Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatric Diabetes
Mozzillo E, Melis D, Falco M, Fattorusso V, Taurisano R, Flanagan SE, Ellard S, Franzese A (2013). Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatric Diabetes, 14(5), 384-387. Abstract.
Boyraz M, Ulucan K, Taşkin N, Akçay T, Flanagan SE, Mackay DJG (2013). Transient neonatal diabetes mellitus in a Turkish patient with three novel homozygous variants in the ZFP57 gene. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 5(2), 125-128. Abstract.

2012

Fraser CS, Rubio-Cabezas O, Littlechild JA, Ellard S, Hattersley AT, Flanagan SE (2012). Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes. Eur J Endocrinol, 167(3), 417-421. Abstract.  Author URL.
Sansbury F, Caswell R, Allen HL, Flanagan SE, Kirel B, Ellard S, Hattersley AT (2012). Biallelic RFX6 inactivation can cause intestinal atresia with childhood rather than neonatal onset diabetes.  Author URL.
Alves C, Flanagan SE, Ellard S, Mackay DJ (2012). Clinical and molecular basis of transient neonatal diabetes mellitus in Brazilian children. Diabetes Research and Clinical Practice, 97(3). Abstract.
Kapoor RR, Flanagan SE, Ellard S, Hussain K (2012). Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene. Clin Endocrinol (Oxf), 76(2), 312-313. Author URL.
Bowman P, Flanagan SE, Edghill EL, Damhuis A, Shepherd MH, Paisey R, Hattersley AT, Ellard S (2012). Heterozygous ABCC8 mutations are a cause of MODY. Diabetologia, 55(1), 123-127. Abstract.  Author URL.
Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S (2012). K ATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatric Diabetes, 13(4), 315-318. Abstract.
Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S (2012). KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatr Diabetes, 13(4), 322-325. Abstract.  Author URL.
Heslegrave AJ, Kapoor RR, Eaton S, Chadefaux B, Akcay T, Simsek E, Flanagan SE, Ellard S, Hussain K (2012). Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase. Orphanet Journal of Rare Diseases, 7(1). Abstract.
Flanagan S, Damhuis A, Banerjee I, Rokicki D, Jefferies C, Kapoor R, Hussain K, Ellard S (2012). Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia. Pediatr Diabetes, 13(3), 285-289. Abstract.  Author URL.
Catli G, Abaci A, Flanagan SE, Anik A, Ellard S, Bober E (2012). Permanent neonatal diabetes caused by a novel mutation in the INS gene. Diabetes Research and Clinical Practice
Jain V, Flanagan SE, Ellard S (2012). Permanent neonatal diabetes caused by a novel mutation. Indian Pediatr, 49(6), 486-488. Abstract.  Author URL.
Habeb AM, Flanagan SE, Deeb A, Al-Alwan I, Alawneh H, Balafrej AAL, Mutair A, Hattersley AT, Hussain K, Ellard S, et al (2012). Permanent neonatal diabetes: Different aetiology in Arabs compared to Europeans. Archives of Disease in Childhood, 97(8), 721-723. Abstract.
Shaw-Smith C, Flanagan SE, Patch AM, Grulich-Henn J, Habeb AM, Hussain K, Pomahacova R, Matyka K, Abdullah M, Hattersley AT, et al (2012). Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia. Pediatric Diabetes, 13(4), 307-314. Abstract.
Sansbury FH, Flanagan SE, Houghton JAL, Shuixian Shen FL, Al-Senani AMS, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT, et al (2012). SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia, 55(9), 2381-2385. Abstract.
Sansbury FH, Flanagan SE, Houghton JAL, Shuixian Shen FL, Al-Senani AMS, Habeb AM, Abdullah M, Kariminejad A, Ellard S, Hattersley AT, et al (2012). SLC2A2 mutations can cause neonatal diabetes, suggesting GLUT2 may have a role in human insulin secretion. Diabetologia, 55(9), 2381-2385. Abstract.  Author URL.
Oztekin O, Durmaz E, Kalay S, Flanagan SE, Ellard S, Bircan I (2012). Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a novel missense mutation, p.P1199L, in the ABCC8 gene. Journal of Perinatology, 32(8), 645-647. Abstract.
Ismail D, Kapoor RR, Smith VV, Ashworth M, Blankenstein O, Pierro A, Flanagan SE, Ellard S, Hussain K (2012). The heterogeneity of focal forms of congenital hyperinsulinism. J Clin Endocrinol Metab, 97(1), E94-E99. Abstract.  Author URL.
Finn RP, Flanagan SE, Chakera AJ, Hattersley AT (2012). The treatment of permanent neonatal diabetes secondary to Kir6.2 mutations with sulphonylureas: 5 year follow-up study. DIABETOLOGIA, 55, S28-S28. Author URL.

2011

Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (European Journal of Endocrinology (2011) 164 (919-926)). European Journal of Endocrinology, 165(3), 485-486.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism (vol 164, pg 919, 2011). EUROPEAN JOURNAL OF ENDOCRINOLOGY, 165(3), 485-486. Author URL.
Park SE, Flanagan SE, Hussain K, Ellard S, Shin CH, Yang SW (2011). Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism. Eur J Endocrinol, 164(6), 919-926. Abstract.  Author URL.
Ocal G, Flanagan SE, Hacihamdioglu B, Berberoglu M, Siklar Z, Ellard S, Erdeve SS, Okulu E, Akin IM, Atasay B, et al (2011). Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 24(11-12), 1019-1023. Author URL.
Thakur S, Flanagan SE, Ellard S, Verma IC (2011). Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene. Indian Pediatr, 48(9), 733-734. Abstract.  Author URL.
Hoertenhuber T, Fritsch M, Berger G, Flanagan SE, Ellard S, Schober E (2011). Diabetes in the 4th month of Life - a rare Case of permanent neonatal Diabetes mellitus. WIENER KLINISCHE WOCHENSCHRIFT, 123, S16-S17. Author URL.
Flanagan SE, Kapoor RR, Banerjee I, Hall C, Smith VV, Hussain K, Ellard S (2011). Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia. Clin Genet, 79(6), 582-587. Abstract.  Author URL.
Ismail D, Smith VV, de Lonlay P, Ribeiro M-J, Rahier J, Blankenstein O, Flanagan SE, Bellanne-Chantelot C, Verkarre V, Aigrain Y, et al (2011). Familial Focal Congenital Hyperinsulinism. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 96(1), 24-28. Author URL.
Ismail D, Smith VV, de Lonlay P, Ribeiro M-J, Rahier J, Blankenstein O, Flanagan SE, Bellanné-Chantelot C, Verkarre V, Aigrain Y, et al (2011). Familial focal congenital hyperinsulinism. J Clin Endocrinol Metab, 96(1), 24-28. Abstract.  Author URL.
Lango Allen H, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract.  Author URL.
Flanagan SE, Kapoor RR, Hussain K (2011). Genetics of congenital hyperinsulinemic hypoglycemia. Semin Pediatr Surg, 20(1), 13-17. Abstract.  Author URL.
Flanagan SE, Patch A-M, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, et al (2011). Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees. J Clin Endocrinol Metab, 96(3), E498-E502. Abstract.  Author URL.
Kapoor RR, Flanagan SE, James CT, McKiernan J, Thomas AM, Harmer SC, Shield JP, Tinker A, Ellard S, Hussain K, et al (2011). Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations. Diabetologia, 54(10), 2575-2583. Abstract.  Full text.
Powell PD, Bellanné-Chantelot C, Flanagan SE, Ellard S, Rooman R, Hussain K, Skae M, Clayton P, De Lonlay P, Dunne MJ, et al (2011). In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy. Diabetes, 60(4), 1223-1228. Abstract.
Minton JAL, Flanagan SE, Ellard S (2011). Mutation surveyor: software for DNA sequence analysis. Methods Mol Biol, 688, 143-153. Abstract.  Author URL.
Männikkö R, Flanagan SE, Sim X, Segal D, Hussain K, Ellard S, Hattersley AT, Ashcroft FM (2011). Mutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the K<inf>ATP</inf> channel can result in either hyperinsulinism or neonatal diabetes. Diabetes, 60(6), 1813-1822. Abstract.
Sansbury FH, Flanagan SE, Houghton JAL, Young E, Shen FLS, Al-Sinani S, Kariminejad A, Habeb AM, Abdullah MA, Ellard S, et al (2011). New insights into genetic causes of neonatal diabetes mellitus: SLC2A2 mutations can cause neonatal diabetes prior to the appearance of Fanconi-Bickel syndrome.  Author URL.
Flanagan SE, Kapoor RR, Smith VV, Hussain K, Ellard S (2011). Paternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia. Front Endocrinol (Lausanne), 2 Abstract.  Author URL.
Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, et al (2011). The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism. Eur J Endocrinol, 164(5), 733-740. Abstract.  Author URL.

2010

Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K (2010). Congenital hyperinsulinism due to a compound heterozygous ABCC8 mutation with spontaneous resolution at eight weeks. Hormone Research in Paediatrics, 73(4), 287-292. Abstract.
Flanagan SE, Kapoor RR, Mali G, Cody D, Murphy N, Schwahn B, Siahanidou T, Banerjee I, Akcay T, Rubio-Cabezas O, et al (2010). Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol, 162(5), 987-992. Abstract.  Author URL.  Full text.
Grulich-Henn J, Wagner V, Thon A, Schober E, Marg W, Kapellen TM, Haberland H, Raile K, Ellard S, Flanagan SE, et al (2010). Entities and frequency of neonatal diabetes: Data from the diabetes documentation and quality management system (DPV). Diabetic Medicine, 27(6), 709-712. Abstract.
Padidela R, Kapoor RR, Moyo Y, Gilbert C, Flanagan SE, Ellard S, Hussain K (2010). Focal congenital hyperinsulinism in a patient with septo-optic dysplasia. Nature Reviews Endocrinology, 6(11), 646-650. Abstract.
Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl L-B, Hattersley AT, et al (2010). Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes, 11(1), 18-23. Abstract.  Author URL.
Männikkö R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM (2010). Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. Human Molecular Genetics, 19(6), 963-972. Abstract.
Oram RA, Edghill EL, Blackman J, Taylor MJO, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, et al (2010). Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol, 203(4), 364.e1-364.e5. Abstract.  Author URL.
Carroll A, Mc Donnell C, Moloney S, Flanagan SE, Monavari A, Ellard S, Murphy NP (2010). PRESENTATION, CLINICAL AND GENETIC OUTCOMES IN a SERIES OF INFANTS WITH CONGENITAL HYPERINSULINISM. PEDIATRIC RESEARCH, 68, 545-546. Author URL.
Edghill EL, Flanagan SE, Ellard S (2010). Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11. Rev Endocr Metab Disord, 11(3), 193-198. Abstract.  Author URL.
Garin I, Edghill EL, Akerman I, Rubio-Cabezas O, Rica I, Locke JM, Maestro MA, Alshaikh A, Bundak R, Del Castillo G, et al (2010). Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proceedings of the National Academy of Sciences of the United States of America, 107(7), 3105-3110. Abstract.
Edghill EL, Minton JAL, Groves CJ, Flanagan SE, Patch A-M, Rubio-Cabezas O, Shepherd M, Lenzen S, McCarthy MI, Ellard S, et al (2010). Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. JOP, 11(1), 14-17. Abstract.  Author URL.
Flanagan SE, Patch A-M, Ellard S (2010). Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations. Genet Test Mol Biomarkers, 14(4), 533-537. Abstract.  Author URL.

2009

Kapoor RR, James C, Flanagan SE, Ellard S, Eaton S, Hussain K (2009). 3-Hydroxyacyl-coenzyme a dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab, 94(7), 2221-2225. Abstract.  Author URL.
Shimomura K, Flanagan SE, Zadek B, Lethby M, Zubcevic L, Girard CAJ, Petz O, Mannikko R, Kapoor RR, Hussain K, et al (2009). Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism. EMBO Mol Med(1), 166-177. Full text.
Craig TJ, Shimomura K, Holl RW, Flanagan SE, Ellard S, Ashcroft FM (2009). An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1. J Clin Endocrinol Metab, 94(7), 2551-2557. Abstract.  Author URL.
Kapoor RR, Flanagan SE, Shield JP, Sian E, Hussain K (2009). Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism. HORMONE RESEARCH, 72, 38-38. Author URL.
Kumaran A, Kapoor RR, Flanagan SE, Ellard S, Hussain K (2009). Familial post prandial hyperinsulinaemic hypoglycaemia. HORMONE RESEARCH, 72, 299-299. Author URL.
Kapoor RR, Flanagan SE, James C, Shield J, Ellard S, Hussain K (2009). Hyperinsulinaemic hypoglycaemia. Arch Dis Child, 94(6), 450-457. Abstract.  Author URL.
Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Banerjee I, Shield JP, Ellard S, Hussain K (2009). Hyperinsulinism-hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. HORMONE RESEARCH, 72, 298-298. Author URL.
Kapoor RR, Flanagan SE, Fulton P, Chakrapani A, Chadefaux B, Ben-Omran T, Banerjee I, Shield JP, Ellard S, Hussain K, et al (2009). Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations. Eur J Endocrinol, 161(5), 731-735. Abstract.  Author URL.
Klupa T, Kowalska I, Wyka K, Skupien J, Patch A-M, Flanagan SE, Noczynska A, Arciszewska M, Ellard S, Hattersley AT, et al (2009). Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype. Clin Endocrinol (Oxf), 71(3), 358-362. Abstract.  Author URL.
Kapoor RR, Flanagan SE, Mali G, Shield JP, Hussain K, Ellard S (2009). Prevalence of HNF4A gene mutations in patients with diazoxide responsive hyperinsulinism. HORMONE RESEARCH, 72, 299-299. Author URL.
Slingerland AS, Shields BM, Flanagan SE, Bruining GJ, Noordam K, Gach A, Mlynarski W, Malecki MT, Hattersley AT, Ellard S, et al (2009). Referral rates for diagnostic testing support an incidence of permanent neonatal diabetes in three European countries of at least 1 in 260,000 live births. Diabetologia, 52(8), 1683-1685. Author URL.  Full text.
Kumaraguru J, Flanagan SE, Greeley SAW, Nuboer R, Støy J, Philipson LH, Hattersley AT, Rubio-Cabezas O (2009). Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care, 32(8), 1428-1430. Abstract.  Author URL.  Full text.
Wagner VM, Kremke B, Hiort O, Flanagan SE, Pearson ER (2009). Transition from insulin to sulfonylurea in a child with diabetes due to a mutation in KCNJ11 encoding Kir6.2--initial and long-term response to sulfonylurea therapy. Eur J Pediatr, 168(3), 359-361. Abstract.  Author URL.
Flanagan SE, Clauin S, Bellanné-Chantelot C, de Lonlay P, Harries LW, Gloyn AL, Ellard S (2009). Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat, 30(2), 170-180. Abstract.  Author URL.
Rubio-Cabezas O, Patch AM, Minton JA, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, et al (2009). Wolcott-Rallison Syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J Clin Endocrinol Metab

2008

Tammaro P, Flanagan SE, Zadek B, Srinivasan S, Woodhead H, Hameed S, Klimes I, Hattersley AT, Ellard S, Ashcroft FM, et al (2008). A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications. Diabetologia, 51(5), 802-810. Abstract.  Author URL.  Full text.
de Wet H, Proks P, Lafond M, Aittoniemi J, Sansom MSP, Flanagan SE, Pearson ER, Hattersley AT, Ashcroft FM (2008). A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. EMBO Rep, 9(7), 648-654. Abstract.  Author URL.
Hussain K, Flanagan SE, Smith VV, Ashworth M, Day M, Pierro A, Ellard S (2008). An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism. Diabetes, 57(1), 259-263. Abstract.  Author URL.
Ellard S, Edghill EL, Locke J, Flanagan SE, Patch AM, Harries LW, Hattersley AT (2008). Both recessive and dominant INS gene mutations are a common cause of neonatal diabetes.  Author URL.
Staník J, Lethby M, Flanagan SE, Gasperíková D, Milosovicová B, Lever M, Bullman H, Zubcevic L, Hattersley AT, Ellard S, et al (2008). Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. Diabetes Care, 31(9), 1736-1737. Abstract.  Author URL.
Rafiq M, Flanagan SE, Patch A-M, Shields BM, Ellard S, Hattersley AT, Neonatal Diabetes International Collaborative Group (2008). Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care, 31(2), 204-209. Abstract.  Author URL.
Flanagan SE, Ellard S (2008). Identification of mutations in the Kir6.2 subunit of the K(ATP) channel. In  (Ed) , 235-245.  Abstract.  Author URL.
Edghill EL, Flanagan SE, Patch A-M, Boustred C, Parrish A, Shields B, Shepherd MH, Hussain K, Kapoor RR, Malecki M, et al (2008). Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes, 57(4), 1034-1042. Abstract.  Author URL.
Shield JPH, Flanagan SE, Mackay DJ, Harries LW, Proks P, Girard C, Ashcroft FM, Temple IK, Ellard S (2008). Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophy. Diabetes, 57(1), 255-258. Abstract.  Author URL.
Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn A-L, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2008). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (vol 56, pg 1930, 2007). DIABETES, 57(2), 523-523. Author URL.
Edghill EL, Locke J, Flanagan SE, Patch A-M, Harries LW, Ellard S, Hattersley AT (2008). Recessive mutations in the INS gene; a novel common cause of permanent neonatal diabetes in consanguineous pedigrees.  Author URL.
Slingerland AS, Hurkx W, Noordam K, Flanagan SE, Jukema JW, Meiners LC, Bruining GJ, Hattersley AT, Hadders-Algra M (2008). Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet Med, 25(3), 277-281. Abstract.  Author URL.

2007

Shimomura K, Hörster F, de Wet H, Flanagan SE, Ellard S, Hattersley AT, Wolf NI, Ashcroft F, Ebinger F (2007). A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology, 69(13), 1342-1349. Abstract.  Author URL.
Tarasov AI, Girard CA, Larkin B, Tammaro P, Flanagan SE, Ellard S, Ashcroft FM (2007). Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.  Abstract.  Author URL.
de Wet H, Rees MG, Shimomura K, Aittoniemi J, Patch A-M, Flanagan SE, Ellard S, Hattersley AT, Sansom MSP, Ashcroft FM, et al (2007). Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. Proc Natl Acad Sci U S A, 104(48), 18988-18992. Abstract.  Author URL.
Støy J, Edghill EL, Flanagan SE, Ye H, Paz VP, Pluzhnikov A, Below JE, Hayes MG, Cox NJ, Lipkind GM, et al (2007). Insulin gene mutations as a cause of permanent neonatal diabetes. Proc Natl Acad Sci U S A, 104(38), 15040-15044. Abstract.  Author URL.
Jenkins D, Bitner-Glindzicz M, Thomasson L, Malcolm S, Warne SA, Feather SA, Flanagan SE, Ellard S, Bingham C, Santos L, et al (2007). Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations. J Pediatr Urol, 3(1), 2-9. Abstract.  Author URL.
Flanagan SE, Patch A-M, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2007). Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 56(7), 1930-1937. Abstract.  Author URL.
Patch AM, Flanagan SE, Boustred C, Hattersley AT, Ellard S (2007). Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.  Abstract.  Author URL.
Edghill EL, Gloyn AL, Goriely A, Harries LW, Flanagan SE, Rankin J, Hattersley AT, Ellard S (2007). Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. J Clin Endocrinol Metab, 92(5), 1773-1777. Abstract.  Author URL.
Ellard S, Flanagan SE, Girard CA, Patch A-M, Harries LW, Parrish A, Edghill EL, Mackay DJG, Proks P, Shimomura K, et al (2007). Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am J Hum Genet, 81(2), 375-382. Abstract.  Author URL.
Slingerland AS, Flanagan SE, Shields B, Patch A-M, Bruining GJ, Noordam K, Cinek O, Malecki M, Gach A, Mlynarski W, et al (2007). Prevalence and incidence of neonatal diabetes in children and adults in the largest international series: increased interest, extended definition, continued misclassification?.  Author URL.
Stanik J, Gasperikova D, Paskova M, Barak L, Javorkova J, Jancova E, Ciljakova M, Hlava P, Michalek J, Flanagan SE, et al (2007). Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J Clin Endocrinol Metab, 92(4), 1276-1282. Abstract.  Author URL.
Codner E, Flanagan SE, Ugarte F, García H, Vidal T, Ellard S, Hattersley AT (2007). Sulfonylurea treatment in young children with neonatal diabetes: dealing with hyperglycemia, hypoglycemia, and sick days. Diabetes Care, 30(5), e28-e29. Author URL.

2006

Proks P, Arnold AL, Bruining J, Girard C, Flanagan SE, Larkin B, Colclough K, Hattersley AT, Ashcroft FM, Ellard S, et al (2006). A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum Mol Genet, 15(11), 1793-1800. Abstract.  Author URL.
Edghill EL, Dix RJ, Flanagan SE, Bingley PJ, Hattersley AT, Ellard S, Gillespie KM (2006). HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes, 55(6), 1895-1898. Abstract.  Author URL.
Jenkins D, Bitner-Glindzicz M, Malcolm S, Allison J, Flanagan SE, de Bruyn R, Thomas DF, Belk RA, Feather SA, Bingham C, et al (2006). Mutation analyses of Uroplakin II in children with renal tract malformations. Nephrol Dial Transplant, 21(12), 3415-3421.
Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT (2006). Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia, 49(6), 1190-1197. Abstract.  Author URL.
Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, et al (2006). Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N Engl J Med, 355(5), 467-477. Abstract.  Author URL.

2005

Codner E, Flanagan SE, Ellard S, Garcia H, Hattersley AT (2005). High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care, 28(3), 758-759.
John H, Flanagan SE, Corrall R, Hattersley AT, Ellard S, Sheppherd M (2005). Neonatal diabetes is more than just a paediatric problem: 57 years of diabetes from a Kir6.2 mutation. Pract Diab Int, 22

Awards

2016: The BMJ Awards- Diabetes Team of the Year

2015: South West Region - Academy of Medical Sciences Prize Sessions, Winner of 'Best Clinical Presentation'

2015: European Association for the Study of Diabetes - Study Group for the Genetics of Diabetes (EASD-SGGD), Rising Star Award

2012: Diabetes UK Innovators in Diabetes (IDia) Course, Winner of Best Abstract

2012: International Society of Pediatric and Adolescent (ISPAD) prize for Innovation in Pediatric diabetes care, led by Prof A Hattersley

2011: University of Exeter Award for Outstanding International Impact

2011: Junior Research Prize Finalist European Association for the Study of Diabetes – Study Group for the Genetics of Diabetes

2010: Hormone Research in Paediatrics prize for best “Novel Insights from Clinical Practice” paper

2006: Junior Research Prize Finalist European Association for the Study of Diabetes – Study Group for the Genetics of Diabetes


Committee/panel activities

2010 - Present: Genetics Society Local Representative for the University of Exeter

2010-2012: Diabetes UK - Innovators in Diabetes (IDia) Group member


Editorial responsibilities

Reviewer for The Genetics Home Reference Web Site at the National Library of Medicine

Contributor to 'Diapedia - The living text book of diabetes


Competitively won research fellowships

2015-2019: Sir Henry Dale Fellowship funded by The Wellcome Trust and The Royal Society


Invited lectures

2016: Centre for Endocrinology, Queen Mary University of London, Endocrine Club, London

2016: Oxford Centre for Diabetes, Endocrinology and Metabolism Seminar Series, Oxford

2016: The Canadian Pediatric Endocrine Group, Edmonton, Canada

2015: 75th Scientific Sessions of the American Diabetes Association, Boston, USA

2015: Polish Society of Paediatric Endocrinology and Diabetology, Zawiercie, Poland

2015: EASD-SGGD Rising Star Award Lecture, Krakow, Poland

2014: Arabic Society for Pediatric Diabetes and Endocrinology, Abu Dhabi, UAE

2014: British Inherited Metabolic Disease Group Symposium, Stirling, Scotland

2012: 1st Bulgarian National Society of Pediatric Endocrinology conference, Sofia, Bulgaria

2010: Association of Clinical Biochemistry, South West Regional Meeting, Exeter, UK

2010: EMBO workshop Disease, Development and Stems Cells in the Pancreas, Stockholm, Sweden

2008: A. Menarini Diagnostics Scientific Symposium, Oxford, UK

2008: Manchester Children's Hospital, Hyperinsulinism Study Day

2007: 67th Scientific Sessions of the American Diabetes Association. Chicago, USA


Media Coverage

Sarah was selected for the inaugural SUSTAIN programme. The aim of this programme is to work with women researchers to enable them to thrive in their independent research careers. It provides an innovative programme of training and support to develop participants’ leadership and career potential.

University of Warwick - Visiting lecturer on the MSc in Diabetes (Paediatrics)

University of Exeter Medical School - BSc Medical Sciences Final Year Project Supervisor

University of Exeter Medical School - Genetic Diabetes Nurses

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