| Maturity-onset diabetes of the young (MODY): how many cases are we missing? BM Shields, S Hicks, MH Shepherd, K Colclough, AT Hattersley, S Ellard Diabetologia 53, 2504-2508, 2010 | 866 | 2010 |
| 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 |
| Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor‐1α gene mutations: evidence for pharmacogenetics in diabetes ER Pearson, WG Liddell, M Shepherd, RJ Corrall, AT Hattersley Diabetic medicine 17 (7), 543-545, 2000 | 343 | 2000 |
| 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 |
| beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. TM Frayling, JC Evans, MP Bulman, E Pearson, L Allen, K Owen, ... Diabetes 50 (suppl_1), S94, 2001 | 321 | 2001 |
| Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes WM Macfarlane, TM Frayling, S Ellard, JC Evans, LIS Allen, MP Bulman, ... The Journal of clinical investigation 104 (9), R33-R39, 1999 | 317 | 1999 |
| A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria S Ellard, F Beards, LIS Allen, M Shepherd, E Ballantyne, R Harvey, ... Diabetologia 43, 250-253, 2000 | 307 | 2000 |
| Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation AJ Chakera, AM Steele, AL Gloyn, MH Shepherd, B Shields, S Ellard, ... Diabetes care 38 (7), 1383-1392, 2015 | 297 | 2015 |
| A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin‐treated patients M Shepherd, B Shields, S Ellard, O Rubio‐Cabezas, AT Hattersley Diabetic Medicine 26 (4), 437-441, 2009 | 292 | 2009 |
| Islet autoantibodies can discriminate maturity‐onset diabetes of the young (MODY) from Type 1 diabetes TJ McDonald, K Colclough, R Brown, B Shields, M Shepherd, P Bingley, ... Diabetic Medicine 28 (9), 1028-1033, 2011 | 281 | 2011 |
| Systematic population screening, using biomarkers and genetic testing, identifies 2.5% of the UK pediatric diabetes population with monogenic diabetes M Shepherd, B Shields, S Hammersley, M Hudson, TJ McDonald, ... Diabetes care 39 (11), 1879-1888, 2016 | 240 | 2016 |
| Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β1: 1See Editorial by Woolf, p. 1202 C Bingham, S Ellard, L Allen, M Bulman, M Shepherd, T Frayling, PJ Berry, ... Kidney international 57 (3), 898-907, 2000 | 227 | 2000 |
| Heterozygous ABCC8 mutations are a cause of MODY P Bowman, SE Flanagan, EL Edghill, A Damhuis, MH Shepherd, ... Diabetologia 55, 123-127, 2012 | 215 | 2012 |
| beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations. ER Pearson, G Velho, P Clark, A Stride, M Shepherd, TM Frayling, ... Diabetes 50 (suppl_1), S101, 2001 | 188 | 2001 |
| No deterioration in glycemic control in HNF-1 [alpha] maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas M Shepherd, ER Pearson, J Houghton, G Salt, S Ellard, AT Hattersley Diabetes care 26 (11), 3191-3193, 2003 | 172 | 2003 |
| Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study P Bowman, Å Sulen, F Barbetti, J Beltrand, P Svalastoga, E Codner, ... The lancet Diabetes & endocrinology 6 (8), 637-646, 2018 | 163 | 2018 |
| β-Cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1α mutation carriers A Stride, S Ellard, P Clark, L Shakespeare, M Salzmann, M Shepherd, ... Diabetes care 28 (7), 1751-1756, 2005 | 161 | 2005 |
| Increased all‐cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene AM Steele, BM Shields, M Shepherd, S Ellard, AT Hattersley, ER Pearson Diabetic Medicine 27 (2), 157-161, 2010 | 157 | 2010 |
| Pregnancy outcome in patients with raised blood glucose due to a heterozygous glucokinase gene mutation G Spyer, KM Macleod, M Shepherd, S Ellard, AT Hattersley Diabetic Medicine 26 (1), 14-18, 2009 | 156 | 2009 |
| Most people with long-duration type 1 diabetes in a large population-based study are insulin microsecretors RA Oram, TJ McDonald, BM Shields, MM Hudson, MH Shepherd, ... Diabetes care 38 (2), 323-328, 2015 | 152 | 2015 |
