Sarah Flanagan | Clinical and Biomedical Sciences

Professor Sarah Flanagan

Professor in Genomic Medicine and Wellcome Trust Senior Research Fellow

S.Flanagan@exeter.ac.uk

01392 408323

RILD Building 03.05

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK

Overview

Sarah leads the monogenic diabetes research programme in Exeter. She has published >240 papers on monogenic disorders of insulin secretion, has delivered 27 invited lectures around the world, and has received multiple highly prestigious international research prizes in recognition of her contributions to diabetes, metabolism and genetics (including the European Association for the Study of Diabetes-SGGD Rising Star award 2015, the GB Morgagni Award 2018 and the Genetics Society Balfour Lecture 2019).

Sarah's studied for a BSc in Cancer Biology and Immunology at the University of Bristol. In 2003 she joined the monogenic diabetes research team at the Peninsula Medical school, enrolling on a PhD programme in 2005. Her thesis was submitted within 2 years and contained 6 peer-reviewed papers reporting novel genotype/phenotype relationships in neonatal diabetes and congenital hyperinsulinism.

Following her PhD Sarah jworked as a post-doctoral fellow within the monogenic diabetes team where she contributed to the discovery of 9 genetic causes of permanent neonatal diabetes. For 3 of these genes she was lead author (Cell Metab 2014, Nat Genet 2014). During her post-doctoral training Sarah received funding which enabled her to spend time with Prof 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 went on to receive 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 Dame Professor Frances Ashcroft Sarah undertook electrophysiology studies to investigate how highly penetrant disease causing mutations identified in humans affect K-ATP channel function in Xenopus oocytes.

In 2015, Sarah was awarded a highly prestigious Wellcome Trust/Royal Society Sir Henry Dale Fellowship which allowed her to develop a programme of research focussing on the genetics of Congenital Hyperinsulinism. In 2021, the award of a Wellcome Trust Senior Researcher Fellowship enabled her to continue this work. She was one of 20 female academics to participate in the first SUSTAIN Academy of Medical Sciences Leadership Programmes and was awarded a Personal Chair in 2023.

Sarah and her team have discovered 4 novel genetic aetiologies for this disorder (Proc Natl Acad Sci 2017, Pediatr Diabetes 2017, J Am Soc Nephrol 2017, Nature Genetics 2021). This programme of work complements the neonatal diabetes research that she is undertaking in Exeter as this condition shares many biological mechanisms and pathways with congenital hyperinsulinism. Further details regarding her research can be found on her team website,

Qualifications

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

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

Research group links

Institute of Biomedical and Clinical Science

Research

Research interests

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

Research projects

Research networks

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

Twitter: https://twitter.com/flanagan_se

Twitter: https://twitter.com/HIgenes

Research grants

2021 Wellcome Trust
Wellcome Trust Senior Research Fellowship, £1.45M
2020 Diabetes Research and Wellness Foundation
Novel genetic insights into autoimmune diabetes. £19,600
2019 Northcott Devon Medical Foundation
Using state-of-the-art technology to discover novel genetic mechanisms of insulin secretion, £6,400
2019 Research England
Research England Expanding Excellence in England, £5.8M
2018 Congenital Hyperinsulinism International
Genetic Testing for Congenital Hyperinsulinism in Exeter, £79,878
2017 Diabetes Research and Wellness Foundation
New insights into development and function of human β-cells by gene discovery in early-onset diabetes, £20,000
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 £1,000
2014 Wellcome Trust and Royal Society
Sir Henry Dale Fellowship: increase knowledge of underlying mechanisms of congenital hyperinsulinism £876,235
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

Publications

Journal articles

De Franco E, Wakeling M, Frew R, Russ-Silsby J, Peters C, Marks S, Hattersley A, Flanagan S (In Press). A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly. Clinical Genetics

Wakeling M, Owens NDL, Hopkinson JR, Johnson MB, Houghton JAL, Dastamani A, Flaxman CS, Wyatt RC, Hewat TI, Hopkins JJ, et al (In Press). A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1. Nature Genetics Abstract.

Demirbilek H, Cayir A, Flanagan S, Yıldırım R, Kor Y, Gurbuz F, Haliloğlu B, Yıldız M, Baran RT, Akbas ED, et al (In Press). Clinical characteristics and long-term follow-up of patients with diabetes due to PTF1A enhancer mutations. Journal of Clinical Endocrinology and Metabolism

De Franco E, Caswell R, Johnson M, Wakeling M, Zung A, Dũng VC, Bích Ngọc CT, Goonetilleke R, Vivanco Jury M, El- Khateeb M, et al (In Press). De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction. Diabetes

Hopkins J, Childs A, Houghton J, Hewat T, Atapattu N, Johnson M, Patel K, Laver T, Flanagan S (In Press). Hyperinsulinaemic hypoglycaemia diagnosed in childhood can be monogenic. The Journal of Clinical Endocrinology & Metabolism Abstract.

Hewat TI, Laver T, Houghton J, Mannisto J, Alvi S, Brearey S, Cody D, Dastamani A, de los Santos la Torre M, Murphy N, et al (In Press). Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group. Pediatric Diabetes

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

De Franco E, Owens N, Hattersley A, Flanagan S, Wakeling M, Johnson M, Wright C (In Press). Primate-specific ZNF808 is essential for pancreatic development in humans. Nature Genetics

Houghton J, Laver T, Flanagan S (In Press). Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism. Journal of Pathology: Clinical Research

Laver TW, Wakeling MN, Caswell RC, Bunce B, Yau D, Männistö JME, Houghton JAL, Hopkins JJ, Weedon MN, Saraff V, et al (2024). Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements. Eur J Hum Genet Abstract. Author URL.

Hughes AE, Houghton JAL, Bunce B, Chakera AJ, Spyer G, Shepherd MH, Flanagan SE, Hattersley AT (2023). Bringing precision medicine to the management of pregnancy in women with glucokinase-MODY: a study of diagnostic accuracy and feasibility of non-invasive prenatal testing. Diabetologia, 66(11), 1997-2006. Abstract.

De Leon DD, Arnoux JB, Banerjee I, Bergada I, Bhatti T, Conwell LS, Fu J, Flanagan SE, Gillis D, Meissner T, et al (2023). International Guidelines for the Diagnosis and Management of Hyperinsulinism. Hormone Research in Paediatrics, 1-20. Abstract.

Hughes AE, De Franco E, Freathy RM, Fetal Insulin and Growth Consortium, Flanagan SE, Hattersley AT (2023). Monogenic disease analysis establishes that fetal insulin accounts for half of human fetal growth. J Clin Invest, 133(6). Author URL.

Hopkins JJ, Wakeling MN, Johnson MB, Flanagan SE, Laver TW (2023). REVEL is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants. Human Mutation, 2023, 1-6. Abstract.

Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J, ADA/EASD PMDI, Misra S, et al (2023). The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion. Commun Med (Lond), 3(1). Abstract. Author URL.

Locke JM, Dusatkova P, Colclough K, Hughes AE, Dennis JM, Shields B, Flanagan SE, Shepherd MH, Dempster EL, Hattersley AT, et al (2022). Association of birthweight and penetrance of diabetes in individuals with HNF4A-MODY: a cohort study. Diabetologia, 65(1), 246-249. Author URL.

Laver TW, De Franco E, Johnson MB, Patel KA, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2022). SavvyCNV: Genome-wide CNV calling from off-target reads. PLOS Computational Biology, 18(3), e1009940-e1009940. Abstract.

Patel KA, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Siklar Z, Atar M, Colclough K, Houghton J, et al (2022). Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics. Diabetologia, 65(2), 336-342. Abstract. Author URL.

Dastamani A, Yau D, Gilbert C, Morgan K, De Coppi P, Craigie RJ, Bomanji J, Biassoni L, Sajjan R, Flanagan SE, et al (2022). Variation in Glycemic Outcomes in Focal Forms of Congenital Hyperinsulinism—The UK Perspective. Journal of the Endocrine Society, 6(6).

Hewat TI, Yau D, Jerome JCS, Laver TW, Houghton JAL, Shields BM, Flanagan SE, Patel KA (2021). Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11. European Journal of Endocrinology, 185(6), 813-818. Abstract.

Islam S, Tekman M, Flanagan SE, Guay-Woodford L, Hussain K, Ellard S, Kleta R, Bockenhauer D, Stanescu H, Iancu D, et al (2021). Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD). Molecular Genetics and Genomic Medicine, 9(12). Abstract.

Laimon W, El-Ziny M, El-Hawary A, Elsharkawy A, Salem NA-B, Aboelenin HM, Awad MH, Flanagan SE, De Franco E (2021). Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. Acta Diabetologica, 58(12), 1689-1700.

Hughes AE, De Franco E, Globa E, Zelinska N, Hilgard D, Sifianou P, Hattersley AT, Flanagan SE (2021). Identification of GCK-maturity-onset diabetes of the young in cases of neonatal hyperglycemia: a case series and review of clinical features. Pediatr Diabetes, 22(6), 876-881. Abstract. Author URL.

Bowman P, Mathews F, Barbetti F, Shepherd MH, Sanchez J, Piccini B, Beltrand J, Letourneau-Freiberg LR, Polak M, Greeley SAW, et al (2021). Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients with Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes. Diabetes Care, 44(1), 35-42. Abstract. Author URL.

Can TBN, Tran MD, De Franco E, Ellard S, Houghton JAL, Nguyen NL, Bui PT, Nguyen NK, Flanagan SE, Craig ME, et al (2021). Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of KATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. FRONTIERS IN ENDOCRINOLOGY, 12 Author URL.

Ibrahim MN, Laghari TM, Riaz M, Khoso Z, Khan YN, Yasir M, Hanif MI, Flanagan SE, De Franco E, Raza J, et al (2021). Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country. J Pediatr Endocrinol Metab, 34(9), 1095-1103. Abstract. Author URL.

I A, MA M, E DF, V G, S F, J G-H, G M, P R, L P, S E, et al (2021). Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene.

Akerman I, Maestro MA, De Franco E, Grau V, Flanagan S, García-Hurtado J, Mittler G, Ravassard P, Piemonti L, Ellard S, et al (2021). Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene. Cell Rep, 35(2). Abstract. Author URL.

Karlekar MP, Sarathi V, Arya S, Flanagan SE, Patil V, Lila A, Shah N, Bandgar T (2021). Octreotide-LAR is a Useful Alternative for the Management of Diazoxide-Responsive Congenital Hyperinsulinism. Horm Metab Res, 53(11), 723-729. Abstract. Author URL.

Walker EM, Cha J, Tong X, Guo M, Liu J-H, Yu S, Iacovazzo D, Mauvais-Jarvis F, Flanagan SE, Korbonits M, et al (2021). Sex-biased islet β cell dysfunction is caused by the MODY MAFA S64F variant by inducing premature aging and senescence in males. Cell Reports, 37(2), 109813-109813.

Hughes AE, Hattersley AT, Flanagan SE, Freathy RM (2021). Two decades since the fetal insulin hypothesis: what have we learned from genetics?. Diabetologia, 64(4), 717-726. Abstract.

Chandran S, Rajadurai VS, Hoi WH, Flanagan SE, Hussain K, Yap F (2020). A Novel HNF4A Mutation Causing Three Phenotypic Forms of Glucose Dysregulation in a Family. Frontiers in Pediatrics, 8 Abstract.

Abali ZY, De Franco E, Karakilic Ozturan E, Poyrazoglu S, Bundak R, Bas F, Flanagan SE, Darendeliler F (2020). Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: a Single-Centre Experience. Horm Res Paediatr, 93(7-8), 423-432. Abstract. Author URL.

E DF, R C, MB J, MN W, a Z, VC D, CT BN, R G, M VJ, M E-K, et al (2020). De novo mutations in EIF2B1 affecting eif2 signaling cause neonatal/early-onset diabetes and transient hepatic dysfunction.

Sethi A, Foulds N, Ehtisham S, Ahmed SH, Houghton J, Colclough K, Didi M, Flanagan SE, Senniappan S (2020). Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series. J Clin Res Pediatr Endocrinol, 12(4), 420-426. Abstract. Author URL.

Gϋemes M, Rahman SA, Kapoor RR, Flanagan S, Houghton JAL, Misra S, Oliver N, Dattani MT, Shah P (2020). Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management. Rev Endocr Metab Disord, 21(4), 577-597. Abstract. Author URL.

Worth C, Hashmi LA, Yau D, Salomon-Estebanez M, Ruiz DP, Hall C, O'Shea E, Stokes H, Foster P, Flanagan SE, et al (2020). Longitudinal Auxological recovery in a cohort of children with Hyperinsulinaemic Hypoglycaemia. Orphanet J Rare Dis, 15(1). Abstract. Author URL.

P B, TJ M, BA K, SE F, M L, SR S, BM S, S H, MH S, RC A, et al (2020). Patterns of post-meal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-K ATP -channel pathways.

Banerjee I, Senniappan S, Laver TW, Caswell R, Zenker M, Mohnike K, Cheetham T, Wakeling MN, Ismail D, Lennerz B, et al (2020). Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome. Wellcome Open Research, 4, 149-149. Abstract.

Johnson MB, Patel KA, De Franco E, Hagopian W, Killian M, McDonald TJ, Tree TIM, Domingo-Vila C, Hudson M, Hammersley S, et al (2020). Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cells. Diabetologia, 63(12), 2605-2615. Abstract.

De Franco E, Saint‐Martin C, Brusgaard K, Knight Johnson AE, Aguilar‐Bryan L, Bowman P, Arnoux J, Larsen AR, Sanyoura M, Greeley SAW, et al (2020). Update of variants identified in the pancreatic β‐cell K. ATP. channel genes. KCNJ11. and. ABCC8. in individuals with congenital hyperinsulinism and diabetes. Human Mutation, 41(5), 884-905.

Yau D, Laver TW, Dastamani A, Senniappan S, Houghton JAL, Shaikh G, Cheetham T, Mushtaq T, Kapoor RR, Randell T, et al (2020). Using referral rates for genetic testing to determine the incidence of a rare disease: the minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389. PLOS ONE, 15(2), e0228417-e0228417.

De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling M, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, et al (2020). YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. Journal of Clinical Investigation, 130

Apperley L, Giri D, Houghton JAL, Flanagan SE, Didi M, Senniappan S (2019). A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8. J Pediatr Endocrinol Metab, 32(3), 301-304. Abstract. Author URL.

E DF, RA W, WJ W, CC W, SE F, R C, a G, C T, CJ L, SH G, et al (2019). A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development.

De Franco E, Flanagan S, Caswell R, Ellard S, Hattersley A, Watson RA, Weninger WJ, Wong CC, Caswell R, Green A, et al (2019). A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development. American Journal of Human Genetics

Bowman P, Day J, Torrens L, Shepherd MH, Knight BA, Ford TJ, Flanagan SE, Chakera A, Hattersley AT, Zeman A, et al (2019). Cognitive, Neurological, and Behavioral Features in Adults with KCNJ11 Neonatal Diabetes. Diabetes Care, 42(2), 215-224. Abstract. Author URL.

Roy K, Satapathy AK, Houhton JAL, Flanagan SE, Radha V, Mohan V, Sharma R, Jain V (2019). Congenital Hyperinsulinemic Hypoglycemia and Hyperammonemia due to Pathogenic Variants in GLUD1. Indian J Pediatr, 86(11), 1051-1053. Abstract. Author URL.

Işık E, Demirbilek H, Houghton JA, Ellard S, Flanagan SE, Hussain K (2019). Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation. Journal of Clinical Research in Pediatric Endocrinology, 11(1), 82-87.

Işık E, Demirbilek H, Houghton JA, Ellard S, Flanagan SE, Hussain K (2019). Congenital Hyperinsulinism and Evolution to Sulfonylurearesponsive Diabetes Later in Life due to a Novel Homozygous p.L171F ABCC8 Mutation. J Clin Res Pediatr Endocrinol, 11(1), 82-87. Abstract. Author URL.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(3). Abstract. Author URL.

P B, AE S, F B, J B, P S, E C, EH T, PB J, T S, ER P, et al (2019). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Arya VB, Kalitsi J, Hickey A, Flanagan SE, Kapoor RR (2019). Exceptional diazoxide sensitivity in hyperinsulinaemic hypoglycaemia due to a novel HNF4A mutation. Endocrinol Diabetes Metab Case Rep, 2019 Abstract. Author URL.

Chinoy A, Banerjee I, Flanagan SE, Ellard S, Han B, Mohamed Z, Dunne MJ, Bitetti S (2019). Focal Congenital Hyperinsulinism as a Cause for Sudden Infant Death. Pediatr Dev Pathol, 22(1), 65-69. Abstract. Author URL.

Johnson MB, Cerosaletti K, Flanagan SE, Buckner JH (2019). Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes. Curr Diab Rep, 19(5). Abstract. Author URL.

Wakeling MN, Laver TW, Wright CF, De Franco E, Stals KL, Patch A-M, Hattersley AT, Flanagan SE, Ellard S, DDD Study, et al (2019). Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease. Genet Med, 21(4), 982-986. Abstract. Author URL.

Kostopoulou E, Dastamani A, Caiulo S, Antell H, Flanagan SE, Shah P (2019). Hyperinsulinaemic hypoglycaemia: a new presentation of 16p11.2 deletion syndrome. Clin Endocrinol (Oxf), 90(5), 766-769. Author URL.

Madani H, Elkaffas R, Alkholy B, Musa N, Shaalan Y, Elkaffas R, Hassan M, Hafez M, Flanagan SE, De Franco E, et al (2019). Identification of novel variants in neonatal diabetes mellitus genes in Egyptian patients with permanent NDM. International Journal of Diabetes in Developing Countries, 39(1), 53-59. Abstract.

Kiff S, Babb C, Guemes M, Dastamani A, Gilbert C, Flanagan SE, Ellard S, Barton J, Dattani M, Shah P, et al (2019). Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation. Endocrinol Diabetes Metab Case Rep, 2019 Abstract. Author URL.

Bowman P, McDonald TJ, Knight BA, Flanagan SE, Leveridge M, Spaull SR, Shields BM, Hammersley S, Shepherd MH, Andrews RC, et al (2019). Patterns of postmeal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-K ATP -channel pathways. BMJ Open Diabetes Research and Care, 7(1). Abstract.

Banerjee I, Senniappan S, Laver TW, Caswell R, Zenker M, Mohnike K, Cheetham T, Wakeling MN, Ismail D, Lennerz B, et al (2019). Refinement of the critical genomic region for hypoglycaemia in the Chromosome 9p deletion syndrome. Wellcome Open Research, 4, 149-149. Abstract.

Laver TW, De Franco E, Johnson MB, Patel K, Ellard S, Weedon MN, Flanagan SE, Wakeling MN (2019). SavvyCNV: genome-wide CNV calling from off-target reads. Abstract.

Maria G, Antonia D, Michael A, Kate M, Sian E, Sarah FE, Mehul D, Pratik S (2019). Sirolimus: Efficacy and Complications in Children with Hyperinsulinemic Hypoglycemia: a 5-Year Follow-Up Study. Journal of the Endocrine Society, 3(4), 699-713.

Johnson MBJ, De Franco E, Atma W Greeley S, Letourneau LR, Gillespie K, Wakeling MN, Ellard S, Flanagan SE, Patel K, Hattersley AT, et al (2019). Trisomy 21 is a Cause of Permanent Neonatal Diabetes that is Autoimmune but not HLA Associated. Diabetes

Johnson MBJ, Patel K, De Franco E, Houghton J, McDonald T, Ellard S, Flanagan S, Hattersley A (2018). A Type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early onset clustering of polygenic autoimmunity with diabetes. Diabetologia

Mimee M, Nadeau P, Hayward A, Carim S, Flanagan S, Jerger L, Collins J, McDonnell S, Swartwout R, Citorik RJ, et al (2018). An ingestible bacterial-electronic system to monitor gastrointestinal health. Science, 360(6391), 915-918. Abstract. Author URL.

B H, Z M, MS E, RJ C, M N, E C, R P, M S, M J, S F, et al (2018). Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated with Mosaic Patterns of Immature Islet Cells.

Craigie RJ, Salomon-Estebanez M, Yau D, Han B, Mal W, Newbould M, Cheesman E, Bitetti S, Mohamed Z, Sajjan R, et al (2018). Clinical Diversity in Focal Congenital Hyperinsulinism in Infancy Correlates with Histological Heterogeneity of Islet Cell Lesions. FRONTIERS IN ENDOCRINOLOGY, 9 Author URL.

Dastamani A, Yau D, Gilbert C, Morgan K, O'Shea E, Pimlott H, DeCoppi P, Craigie R, Flanagan S, Houghton J, et al (2018). Clinical outcomes of focal congenital hyperinsulinism - a UK perspective. Endocrine Abstracts

Laver TW, Wakeling MN, Hong Yeow Hua J, Houghton JAL, Hussain K, Ellard S, Flanagan SE (2018). Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia. Abstract.

Laver TW, Wakeling MN, Hua JHY, Houghton JAL, Hussain K, Ellard S, Flanagan SE (2018). Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. Clinical Endocrinology, 89(5), 621-627. Abstract.

Mangla P, Hussain K, Ellard S, Flanagan SE, Bhatia V (2018). Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis. J Pediatr Endocrinol Metab, 31(8), 943-945. Abstract. Author URL.

Jost L, Archer F, Flanagan S, Gaggiotti O, Hoban S, Latch E (2018). Differentiation measures for conservation genetics. Evol Appl, 11(7), 1139-1148. Abstract. Author URL.

Bowman P, Sulen Å, Barbetti F, Beltrand J, Svalastoga P, Codner E, Tessmann EH, Juliusson PB, Skrivarhaug T, Pearson ER, et al (2018). Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol, 6(8), 637-646. Abstract. Author URL.

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, et al (2018). Erratum. Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes. Diabetes 2017;66:2316-2322. Diabetes, 67(3). Author URL.

Bowman P, Flanagan SE, Hattersley AT (2018). Future Roadmaps for Precision Medicine Applied to Diabetes: Rising to the Challenge of Heterogeneity. JOURNAL OF DIABETES RESEARCH, 2018 Author URL.

Al Senani A, Hamza N, Al Azkawi H, Al Kharusi M, Al Sukaiti N, Al Badi M, Al Yahyai M, Johnson M, De Franco E, Flanagan S, et al (2018). Genetic mutations associated with neonatal diabetes mellitus in Omani patients. J Pediatr Endocrinol Metab, 31(2), 195-204. Abstract. Author URL.

Flanagan SP, Forester BR, Latch EK, Aitken SN, Hoban S (2018). Guidelines for planning genomic assessment and monitoring of locally adaptive variation to inform species conservation. Evol Appl, 11(7), 1035-1052. Abstract. Author URL.

Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brändle M, Guo M, et al (2018). MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Proc Natl Acad Sci U S A, 115(5), 1027-1032. Abstract. Author URL.

Şıklar Z, de Franco E, Johnson MB, Flanagan SE, Ellard S, Ceylaner S, Boztuğ K, Doğu F, İkincioğulları A, Kuloğlu Z, et al (2018). Monogenic Diabetes Not Caused By Mutations in Mody Genes: a Very Heterogenous Group of Diabetes. Exp Clin Endocrinol Diabetes, 126(10), 612-618. Abstract. Author URL.

Laver TW, Patel KA, Colclough K, Curran J, Dale J, Davis N, Savage DB, Flanagan SE, Ellard S, Hattersley AT, et al (2018). PLIN1 Haploinsufficiency is Not Associated with Lipodystrophy. J Clin Endocrinol Metab, 103(9), 3225-3230. Abstract. Author URL.

Demirbilek H, Hatipoglu N, Gul U, Tatli ZU, Ellard S, Flanagan SE, De Franco E, Kurtoglu S (2018). Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1. Pediatr Diabetes, 19(5), 898-904. Abstract. Author URL.

Habeb AM, Flanagan SE, Zulali MA, Abdullah MA, Pomahačová R, Boyadzhiev V, Colindres LE, Godoy GV, Vasanthi T, Al Saif R, et al (2018). Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome. Diabetologia, 61(5), 1027-1036. Abstract. Author URL.

Haliloğlu B, Tüzün H, Flanagan SE, Çelik M, Kaya A, Ellard S, Özbek MN (2018). Sirolimus-Induced Hepatitis in Two Patients with Hyperinsulinemic Hypoglycemia. J Clin Res Pediatr Endocrinol, 10(3), 279-283. Abstract. Author URL.

Flanagan SP, Jones AG (2018). Substantial differences in bias between single-digest and double-digest RAD-seq libraries: a case study. MOLECULAR ECOLOGY RESOURCES, 18(2), 264-280. Author URL.

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.

Flanagan SE, Dũng VC, Houghton JAL, De Franco E, Ngoc CTB, Damhuis A, Ashcroft FM, Harries LW, Ellard S (2017). An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression. J Clin Res Pediatr Endocrinol, 9(3), 260-264. Abstract. Author URL.

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

Han B, Mohamed Z, Estebanez MS, Craigie RJ, Newbould M, Cheesman E, Padidela R, Skae M, Johnson M, Flanagan S, et al (2017). Atypical Forms of Congenital Hyperinsulinism in Infancy Are Associated with Mosaic Patterns of Immature Islet Cells. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 102(9), 3261-3267. 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.

Ioacara S, Flanagan S, Fröhlich-Reiterer E, Goland R, Fica S (2017). First case of neonatal diabetes with KCNJ11 Q52R mutation successfully switched from insulin to sulphonylurea treatment. J Diabetes Investig, 8(5), 716-719. Abstract. Author URL.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance. Abstract.

Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, et al (2017). Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance. Nat Commun, 8(1). 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. Abstract.

Damery S, Flanagan S, Rai K, Combes G (2017). Improving safety in care homes: protocol for evaluation of the Walsall and Wolverhampton care home improvement programme. BMC Health Serv Res, 17(1). Abstract. Author URL.

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, 28(8), 2529-2539. Abstract. Author URL.

Johnson MB, De Franco E, Allen HL, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, et al (2017). Recessively inherited LRBA mutations cause autoimmunity presenting as neonatal diabetes. Diabetes, 66(8), 2316-2322. Abstract.

Cabezas OR, Flanagan S, Stanescu H, consortium H, Kleta R, Hussain K, Ellard S, Bockenhauer D (2017). SO030POLYCYSTIC KIDNEY DISEASE WITH HYPERINSULINAEMIC HYPOGLYCAEMIA AND a PROMOTER MUTATION IN PMM2. Nephrology Dialysis Transplantation, 32(suppl_3), iii102-iii102.

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

Flanagan SM, Levitt JP, Ayotte JD (2017). Trends in Methyl tert-Butyl Ether Concentrations in Private Wells in Southeast New Hampshire: 2005 to 2015. Environ Sci Technol, 51(3), 1168-1175. Abstract. Author URL.

Hussain S, Flanagan S, Ellard S (2016). A case report on congenital hyperinsulinism associated with ABCC8 nonsense mutation: Good response to octreotide. Journal of the ASEAN Federation of Endocrine Societies, 31(2), 178-182. Abstract.

Iacovazzo D, Flanagan SE, Walker E, Caswell R, Brandle M, Johnson M, Wakeling M, Guo M, Dang MN, Gabrovska P, et al (2016). A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes. Endocrine Abstracts

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. Abstract.

Taberner P, Flanagan SE, Mackay DJ, Ellard S, Taverna MJ, Ferraro M (2016). Clinical and genetic features of Argentinian children with diabetes-onset before 12 months of age: Successful transfer from insulin to oral sulfonylurea. Diabetes Research and Clinical Practice, 117, 104-110. Abstract.

Kocaay P, Şiklar Z, Ellard S, Yagmurlu A, Çamtosun E, Erden E, Berberoglu M, Flanagan SE (2016). Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. Hormone Research in Paediatrics, 85(6), 421-425. Abstract.

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.

Damery S, Flanagan S, Combes G (2016). Does integrated care reduce hospital activity for patients with chronic diseases? an umbrella review of systematic reviews. BMJ Open, 6(11). Abstract. Author URL.

Deeb A, Habeb A, Kaplan W, Attia S, Hadi S, Osman A, Al-Jubeh J, Flanagan S, DeFranco E, Ellard S, et al (2016). Genetic characteristics, clinical spectrum, and incidence of neonatal diabetes in the Emirate of AbuDhabi, United Arab Emirates. Am J Med Genet A, 170(3), 602-609. Abstract. Author URL.

Satapathy AK, Jain V, Ellard S, Flanagan SE (2016). Hyperinsulinemic hypoglycemia of infancy due to novel HADH mutation in two siblings. Indian Pediatrics, 53(10), 912-913. Abstract.

Houghton JAL, Swift GH, Shaw-Smith C, Flanagan SE, de Franco E, Caswell R, Hussain K, Mohamed S, Abdulrasoul M, Hattersley AT, et al (2016). Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. Diabetes, 65(9), 2810-2815. Abstract. Author URL.

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.

Johnson MB, Hattersley AT, Flanagan SE (2016). Monogenic autoimmune diseases of the endocrine system. Lancet Diabetes Endocrinol, 4(10), 862-872. Abstract. Author URL.

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.

Flanagan SP, Rose E, Jones AG (2016). Population genomics reveals multiple drivers of population differentiation in a sex-role-reversed pipefish. Mol Ecol, 25(20), 5043-5072. Abstract. Author URL.

Besser REJ, Flanagan SE, Mackay DGJ, Temple IK, Shepherd MH, Shields BM, Ellard S, Hattersley AT (2016). Prematurity and Genetic Testing for Neonatal Diabetes. Pediatrics, 138(3). Abstract. Author URL.

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.

Yeung J, Melody T, Kerr A, Naidu B, Middleton L, Tryposkiadis K, Daniels J, Gao F, TOPIC Study Investigators (2016). Randomised controlled pilot study to investigate the effectiveness of thoracic epidural and paravertebral blockade in reducing chronic post-thoracotomy pain: TOPIC feasibility study protocol. BMJ Open, 6(12). Abstract. Author URL.

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.

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. Abstract.

Çamtosun E, Flanagan SE, Ellard S, Şıklar Z, Hussain K, Kocaay P, Berberoğlu M (2015). A deep intronic HADH splicing mutation (c.636+471G>T) in a congenital hyperinsulinemic hypoglycemia case: Long term clinical course. JCRPE Journal of Clinical Research in Pediatric Endocrinology, 7(2), 144-147. Abstract.

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. Abstract.

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.

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.

Hussain S, Ellard S, Flanagan S (2015). Diazoxide-unresponsive congenital hyperinsulinism associated with ABCC8 nonsense mutation. International Journal of Pediatric Endocrinology, 2015(Suppl 1).

Giri D, Flanagan SE, Ellard S, Didi M, Senniappan S (2015). Digenic mutation resulting in a rare form of diazoxide responsive congenital hyperinsulinism. Endocrine Abstracts

Abraham MB, Shetty VB, Price G, Smith N, Bock MD, Siafarikas A, Resnick S, Whan E, Ellard S, Flanagan SE, et al (2015). Efficacy and safety of sirolimus in a neonate with persistent hypoglycaemia following near-total pancreatectomy for hyperinsulinaemic hypoglycaemia. Journal of Pediatric Endocrinology and Metabolism, 28(11-12), 1391-1398. Abstract.

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.

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. Abstract.

Duong DA, Dung VC, Dat NP, Thao BP, Ngoc CTB, Khanh NN, Dien TM, Liem NT, Flanagan S, Ellard S, et al (2015). Molecular genetics, correlation between genotype and phenotype of 65 Vietnames patients with congenital hyperinsulinism. International Journal of Pediatric Endocrinology, 2015(Suppl 1).

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.

Babiker O, Flanagan SE, Ellard S, Girim HA, Hussain K, Senniappan S (2015). Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family. Journal of Pediatric Endocrinology and Metabolism, 28(9-10), 1073-1077. Abstract.

Abraham M, Flanagan S, Shetty V, Price G, deBock M, Siafarikas A, Ellard S, Resnick S, Whan E, Davis E, et al (2015). Sirolimus therapy following subtotal pancreatectomy in neonatal hyperinsulinemic hypoglycaemia: a case report. International Journal of Pediatric Endocrinology, 2015(Suppl 1).

Shah P, Arya VB, Flanagan SE, Morgan K, Ellard S, Senniappan S, Hussain K (2015). Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation. Journal of Pediatric Endocrinology and Metabolism, 28(5-6), 695-699. Abstract.

De Franco E, Flanagan SE, Houghton JAL, 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.

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.

Arya VB, Flanagan SE, Schober E, Rami-Merhar B, Ellard S, Hussain K (2014). Activating AKT2 mutation: hypoinsulinemic hypoketotic hypoglycemia. J Clin Endocrinol Metab, 99(2), 391-394. Abstract. Author URL.

Flanagan SE, Haapaniemi E, Russell MA, Caswell R, Allen HL, De Franco E, McDonald TJ, Rajala H, Ramelius A, Barton J, et al (2014). Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease. Nat Genet, 46(8), 812-814. Abstract. Author URL.

Flanagan SE, De Franco E, Lango Allen H, Zerah M, Abdul-Rasoul MM, Edge Julie A, Stewart H, Alamiri E, Hussain K, Wallis S, et al (2014). Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man. Cell Metabolism

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.

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.

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

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.

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.

Weedon MN, Cebola I, Patch A-M, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH-H, Allen HL, et al (2014). Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet, 46(1), 61-64. Abstract. Author URL.

Senniappan S, Alexandrescu S, Tatevian N, Shah P, Arya V, Flanagan S, Ellard S, Rampling D, Ashworth M, Brown RE, et al (2014). Sirolimus therapy in infants with severe hyperinsulinemic hypoglycemia. N Engl J Med, 370(12), 1131-1137. Abstract. Author URL.

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

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, 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.

Dung VC, Liem NT, Thao BP, Khanh NN, Ngoc CTB, Hoan NT, Dung KTK, Nhu LT, Duong DA, Dat NP, et al (2013). Molecular genetics and phenotype of 26 Vietnamese patients with congenital hyperinsulinism. International Journal of Pediatric Endocrinology, 2013(Suppl 1).

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.

Ngoc CTB, Dung VC, Flanagan S, Ellard S (2013). Neonatal diabetes in Wolcott–Rallison syndrome: a case report. International Journal of Pediatric Endocrinology, 2013(Suppl 1).

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.

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

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

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.

Bayarchimeg M, Ismail D, Lam A, Burk D, Kirk J, Hogler W, Flanagan SE, Ellard S, Hussain K (2012). Galactokinase deficiency in a patient with congenital hyperinsulinism. JIMD Rep, 5, 7-11. Abstract. 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<inf>ATP</inf> channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatric Diabetes, 13(4), 322-325. 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), 314-321. Abstract.

Shaw-Smith C, Flanagan SE, Patch A-M, 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

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.

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.

Banerjee I, Avatapalle B, Petkar A, Skae M, Padidela R, Ehtisham S, Patel L, Rigby L, Flanagan S, Ellard S, et al (2012). The association of cardiac ventricular hypertrophy with congenital hyperinsulinism. European Journal of Endocrinology, 167(5), 619-624. Abstract.

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.

Durmaz E, Flanagan S, Berdeli A, Semiz S, Akcurin S, Ellard S, Bircan I (2012). Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation. Journal of Pediatric Endocrinology and Metabolism, 25(7-8), 805-808. Abstract.

Shepherd M, Cropper J, Flanagan S, Ellard S, Hattersley A (2011). A diagnosis of monogenic neonatal diabetes can improve treatment and glycaemic control. Journal of Diabetes Nursing, 15(1).

Balasubramaniam S, Kapoor R, Yeow JHH, Lim PG, Flanagan S, Ellard S, Hussain K (2011). Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 24(7-8), 573-577. 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 (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 (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. 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.

Allen HL, Flanagan SE, Shaw-Smith C, De Franco E, Akerman I, Caswell R, International Pancreatic Agenesis Consortium, Ferrer J, Hattersley AT, Ellard S, et al (2011). GATA6 haploinsufficiency causes pancreatic agenesis in humans. Nat Genet, 44(1), 20-22. Abstract. Author URL.

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.

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.

Rubio-Cabezas O, Flanagan SE, Damhuis A, Hattersley AT, Ellard S (2011). K ATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life. Pediatric Diabetes

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.

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.

Rubio-Cabezas O, Patch AM, Minton JAL, Flanagan SE, Edghill EL, Hussain K, Balafrej A, Deeb A, Buchanan CR, Jefferson IG, et al (2010). Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families (J Clin Endocrinol Metab 94 (4162-4170)). Journal of Clinical Endocrinology and Metabolism, 95(3).

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.

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. Molecular Endocrinology, 23(6), 943-944.

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.

Konstantinova M, Ellard S, Flanagan SE, Koprivarova K, Georgieva R, Hristova E, Litvinenko I, Popova G, Anadoliiska A (2009). Hyperinsulinemic hypoglycemia three cases with mutation in ABCC gene encoding SUR1. Pediatriya, 49(2). Abstract.

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.

Köhle J, Wiedemann B, Schober E, Ellard S, Flanagan S, Meraner D, Steichen E, Zimmerhackl L, Hofer S (2009). Neonataler Diabetes in Österreich – aktuelle Inzidenzberechnung. Diabetologie und Stoffwechsel, 4(S 01).

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.

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.

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.

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.

Flanagan SE, Patch AM, Mackay DJG, Edghill EL, Gloyn AL, Robinson D, Shield JPH, Temple K, Ellard S, Hattersley AT, et al (2008). Erratum: Mutations in ATP-sensitive K+ cannel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood (Diabetes (2007) 56 (1930-1937)). Diabetes, 57(2).

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, Boodhansingh KE, Lalonde E, Ganguly A (2019). Molecular diagnosis of congenital hyperinsulinism. In (Ed) Contemporary Endocrinology, 61-69. Abstract.

Flanagan SE, Ellard S (2008). Identification of Mutations in the Kir6.2 Subunit of the KATP Channel. In (Ed) Methods in Molecular Biology, Humana Press, 235-245.

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

Hughes AE, De Franco E, Freathy RM, Flanagan SE, Hattersley AT (2021). 493 Using human monogenic disease to quantify the contribution of fetal insulin to birth weight.

McGlacken-Byrne SM, Mohammad JK, Conlon N, Gubaeva D, Siersbaek J, Schou AJ, Demibilek H, Dastamani A, Houghton J, Brusgaard K, et al (2021). Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort. Author URL.

Pasquini TLS, Houghton JAL, Mesfin M, Flanagan SE, Raskin J (2021). Genetic Testing Access and Results for Patients with Congenital Hyperinsulinism as Conducted through the CHI and University of Exeter Partnership. Author URL.

Hughes AE, Houghton JAL, Chakera AJ, Spyer G, Shepherd MH, Flanagan SE, Hattersley AT (2021). Non-invasive prenatal diagnosis of fetal genotype in pregnant women with GCK-MODY: the impact of precision medicine on antenatal care. Author URL.

Hughes AE, De Franco E, Freathy RM, Flanagan SE, Hattersley AT (2021). Using human monogenic disease to quantify the contribution of fetal insulin to birth weight. Author URL.

CHA J, WALKER EM, TONG X, GUO M, LIU JH, YU S, IACOVAZZO D, MAUVAIS-JARVIS F, FLANAGAN SE, KORBONITS M, et al (2020). 2116-P: MAFA S64F Missense Mutation Causes Islet Beta-Cell Aging and Senescence.

Hughes AE, De Franco E, Freathy RM, Flanagan SE, Hattersley AT (2020). Basic and clinical science posters: Hypoglycaemia. Author URL.

Mohammad JK, Bosch L, Dastamani A, Gilbert C, Morgan K, Houghton J, Flanagan S, Shah P (2020). G413 Genotype and phenotype correlation in children with congenital hyperinsulinism. BSPED.

Bowman P, Shepherd MH, Barbetti F, Mathews F, Rawlins E, Sanchez J, Ellard S, Flanagan SE, Hattersley AT (2020). Ten-year follow-up of an international series of patients with permanent neonatal diabetes due to ABCC8 mutations shows excellent long-term glycaemic response to sulphonylureas and high frequency of neurological features. Author URL.

Galcheva S, Iotova V, Ellard S, Chuperkova J, Bazdarska Y, Bocheva Y, Flanagan SE (2019). Clinical and genetic characteristics of patients with hyperinsulinaemic hypoglycaemia diagnosed and treated at a tertiary endocrine center, a part of the ENDO-ERN. Author URL.

Demirbilek H, Cayir A, DeFranco E, Kor Y, Yildiz M, Yildirim R, Baran RT, Demiral M, Haliloglu B, Flanagan SE, et al (2019). Clinical characteristics and long term follow up of 17 patients with permanent neonatal diabetes due to PTF1A distal enhancer mutations. Author URL.

Wakeling MN, De Franco E, Laver TW, Flanagan SE, Johnson M, Patel K, Hattersley AT, Ellard S (2019). Homozygosity mapping from small targeted NGS panels using SavvyHomozygosity - getting more from less. Author URL.

De Franco E, Wakeling MN, Johnson MB, Flanagan SE, Ellard S, Hattersley AT (2019). Integration of research within clinical care identifies 14 novel genetic causes of neonatal diabetes. Author URL.

Bowman P, Patel KA, McDonald TJ, Knight BA, Leveridge M, Flanagan SE, Hammersley S, Shepherd MH, Andrews RC, Hattersley AT, et al (2019). Physiological assessment of individuals with sulphonylurea-treated KCNJ11 permanent neonatal diabetes following carbohydrate and protein meals shows markedly reduced KATP mediated insulin secretion but relatively intact non-KATP pathways. Author URL.

Aftab S, Gubaeva D, Dastamani A, Sotiridou E, Gilbert C, Houghton J, Flanagan SE, Melikyan M, Shah P (2019). Spectrum of Neuro-developmental disorders in Children with Congenital Hyperinsulinism due to activating mutations in GLUD1. Author URL.

Galcheva S, Iotova V, Flanagan SE, Ellard S, Hattersley A (2018). A Boy with Diazoxide Unresponsive Congenital Hyperinsulinism Due to a Homozygous ABCC8 Missense Mutation Previously Reported to be Dominant. Author URL.

Ozbek MN, Demirbilek H, Haliloglu B, Demiral M, Baran RT, Ellard S, Houghton J, Flanagan SE, Hussain K (2018). Clinical Characterstics, Genotype-phenotype Correlations and Follow up of Patients with Congenital Hyperinsulinaemic Hypoglycaemia; Single Center Experience from a Southeastern City of Turkey. Author URL.

Patel KA, Colclough K, Ozbek MN, Yildiz M, Guran T, Kocyigit C, Acar S, Siklar Z, Atar M, Johnson MB, et al (2018). Comprehensive Genetic Testing Shows One in Five Children with Diabetes and Non-Autoimmune Extra-Pancreatic Features Have Monogenic Aetiology. Author URL.

Mcdonald TJ, Flanagan SE, Knight B (2018). Differential diagnosis of hyperglycaemia at day five of life: Implications for a new born screening programme. Author URL.

Bowman P, Shepherd MH, McDonald TJ, Andrews RC, Spaull SR, Statton S, Hammersley S, Leveridge M, Shields BM, Flanagan SE, et al (2018). Excess insulin secretion with a high protein meal in sulphonylurea treated KCNJ11 neonatal diabetes patients shows the limitations of amplifying insulin secretion pathways. Author URL.

Hattersley AT, Watson R, Flanagan SE, Ellard S, Heimberg H, Caliebe A, Deeb A, Green A, Weninger WJ, De Franco E, et al (2018). New insights into beta cell development: a specific CNOT1 mutation impairs early pancreatic and neurological development in both humans and mice. Author URL.

Johnson MB, Patel KA, De Franco E, Ellard S, Flanagan SE, Hattersley AT (2018). Patients with Down syndrome who present with neonatal diabetes are unlikely to have a monogenic aetiology. Author URL.

Johnson MB, Patel KA, De Franco E, Flanagan SE, Ellard S, Hattersley AT (2017). A type 1 diabetes genetic risk score discriminatesmonogenic autoimmune diabetes from polygenic clustering of diabetes and autoimmunity. Author URL.

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.

Nagesh. S, Hattersley A, Ellard S, Flanagan S, De Franco E, Sethi B, Naseem A, Khan A, Tanveer S (2016). Abstract #269: Genetic Analysis and Clinico-Genetic Correlation of Neonatal Diabetes in a Cohort of 12 Children from South India.

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.

Dung V, Anh DD, Phuong TB, Thi BNC, Ngoc KN, Phu DN, Minh DT, 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.

External Engagement and Impact

Awards

2020: Genetics Society, Balfour Lecture

2018: G.B. Morgagni Silver Medal Award. University of Padova, Italy

2016: The BMJ Awards- Diabetes Team of the Year

2016: American Association of Clinical Endocrinologists, Gulf Chapter - Distinguished Clinical Research paper

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

Current: Congenital Hyperinsulinism International, Global Registry Scientific Steering Committee

Current: Domain Lead for Endocrine and Metabolism, Genomics England (GeCIP)

Current: Member of the Genomics England (GeCIP) domain for Immune Disorders

Current: Scientific Advisory Board, The Children’s Hyperinsulinism Charity

Current: Congenital Hyperinsulinism International Co-Chair (Genetics Workstream)

Current: Genetics Society Local Representative for the University of Exeter

2010-2012: Diabetes UK - Innovators in Diabetes (IDia) Alumnus

Editorial responsibilities

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

Academic Editor PLOS ONE

Contributor to 'Diapedia - The living text book of diabetes

Competitively won research fellowships

2021: Wellcome Trust Senior Researcher Fellowship

2015: Wellcome Trust and The Royal Society, Sir Henry Dale Fellowship

External doctoral examining nationally and internationally

2021: PhD, University of Eastern Finland

2021: PhD, University of Bergen, Norway

2019: DPhil, University of Oxford

2016: PhD, University of Exeter

Invited lectures

2021: European Society of Pediatric Endocrinology Annual Professional conference (Virtual Meeting)

2021: 11th ISPAD Varna Pediatric Endocrine Society conference (Virtual Meeting)

2021: Canadian Pediatric Endocrine Group Meeting (Virtual)

2020: 80th Scientific Sessions of the American Diabetes Association, (Virtual Meeting).

2019: Great Ormond Street Hospital Paediatric Endocrinology Symposium on Hypoglycaemia, UK

2019: 3rd Joint Meeting of the EASD Islet Study Group & Beta Cell Workshop, Oxford, UK

2019: European Society of Pediatric Endocrinology, Vienna, Austria

2018: Endocrinology Debate and Global Exchange (EDGE), Rio de Janeiro, Brazil

2017: Endocrine First Global Summit. Athens, Greece

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

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

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, UK

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

Media Coverage

2015: The Times Higher Education Supplement - Women scientists selected for career advancement scheme (SUSTAIN)

2015: Western Morning News Ones to Watch – a list of 40 of the biggest up-and-coming talents in the region.

2014: Subject of Lifestyle piece in Western Morning News

Teaching

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 - MSc Genomic Medicine Project Supervisor

University of Exeter Medical School - Genetic Diabetes Nurses

Supervision / Group

Research Fellows

Elisa De Franco
Matthew Johnson
Matthew Wakeling
Tom Laver

Postdoctoral researchers

Dr Jessica Hopkinson

Postgraduate researchers

Russell Frew
Kathryn Hinton
Jasmin Hopkins
James Russ-Silsby

Research Technicians

Ellie Self

Alumni

Dr Pamela Bowman
Dr Clemetine Fraser
Thomas Iain Hewat
Dr Alice Hughes
Amy Hutchings

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