| Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations ER Pearson, I Flechtner, PR Njølstad, MT Malecki, SE Flanagan, B Larkin, ... New England Journal of Medicine 355 (5), 467-477, 2006 | 1169 | 2006 |
| Insulin gene mutations as a cause of permanent neonatal diabetes J Støy, EL Edghill, SE Flanagan, H Ye, VP Paz, A Pluzhnikov, JE Below, ... Proceedings of the National Academy of Sciences 104 (38), 15040-15044, 2007 | 672 | 2007 |
| Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease SE Flanagan, E Haapaniemi, MA Russell, R Caswell, HL Allen, ... Nature genetics 46 (8), 812-814, 2014 | 514 | 2014 |
| 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 … EL Edghill, SE Flanagan, AM Patch, C Boustred, A Parrish, B Shields, ... Diabetes 57 (4), 1034-1042, 2008 | 474 | 2008 |
| Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations SE Flanagan, AM Patch, S Ellard Genetic testing and molecular biomarkers 14 (4), 533-537, 2010 | 448 | 2010 |
| Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood SE Flanagan, AM Patch, DJG Mackay, EL Edghill, AL Gloyn, D Robinson, ... Diabetes 56 (7), 1930-1937, 2007 | 444 | 2007 |
| The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study E De Franco, SE Flanagan, JAL Houghton, HL Allen, DJG Mackay, ... The Lancet 386 (9997), 957-963, 2015 | 357 | 2015 |
| Improved genetic testing for monogenic diabetes using targeted next-generation sequencing S Ellard, H Lango Allen, E De Franco, SE Flanagan, G Hysenaj, ... Diabetologia 56, 1958-1963, 2013 | 341 | 2013 |
| GATA6 haploinsufficiency causes pancreatic agenesis in humans HL Allen, SE Flanagan, C Shaw-Smith, E De Franco, I Akerman, ... Nature genetics 44 (1), 20-22, 2012 | 306 | 2012 |
| Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis MN Weedon, I Cebola, AM Patch, SE Flanagan, E De Franco, R Caswell, ... Nature genetics 46 (1), 61-64, 2014 | 304 | 2014 |
| Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations M Rafiq, SE Flanagan, AM Patch, BM Shields, S Ellard, AT Hattersley, ... Diabetes care 31 (2), 204-209, 2008 | 300 | 2008 |
| Update of mutations in the genes encoding the pancreatic beta‐cell KATP channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes … SE Flanagan, S Clauin, C Bellanné‐Chantelot, P de Lonlay, LW Harries, ... Human mutation 30 (2), 170-180, 2009 | 292 | 2009 |
| 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 SE Flanagan, EL Edghill, AL Gloyn, S Ellard, AT Hattersley Diabetologia 49, 1190-1197, 2006 | 274 | 2006 |
| 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 K Colclough, C Bellanne‐Chantelot, C Saint‐Martin, SE Flanagan, ... Human mutation 34 (5), 669-685, 2013 | 272 | 2013 |
| A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes P Proks, AL Arnold, J Bruining, C Girard, SE Flanagan, B Larkin, ... Human molecular genetics 15 (11), 1793-1800, 2006 | 259 | 2006 |
| Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism RR Kapoor, SE Flanagan, VB Arya, JP Shield, S Ellard, K Hussain European journal of endocrinology 168 (4), 557-564, 2013 | 247 | 2013 |
| Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects S Ellard, SE Flanagan, CA Girard, AM Patch, LW Harries, A Parrish, ... The American Journal of Human Genetics 81 (2), 375-382, 2007 | 244 | 2007 |
| Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis I Garin, EL Edghill, I Akerman, O Rubio-Cabezas, I Rica, JM Locke, ... Proceedings of the National Academy of Sciences 107 (7), 3105-3110, 2010 | 219 | 2010 |
| Heterozygous ABCC8 mutations are a cause of MODY P Bowman, SE Flanagan, EL Edghill, A Damhuis, MH Shepherd, ... Diabetologia 55, 123-127, 2012 | 214 | 2012 |
| Hyperinsulinaemic hypoglycaemia RR Kapoor, SE Flanagan, C James, J Shield, S Ellard, K Hussain Archives of Disease in Childhood 94 (6), 450-457, 2009 | 183 | 2009 |
Sian EllardProfessor of Genomic Medicine, University of ExeterVerified email at nhs.net
