| 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 |
| Update on mutations in glucokinase (GCK), which cause maturity‐onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia KK Osbak, K Colclough, C Saint‐Martin, NL Beer, C Bellanné‐Chantelot, ... Human mutation 30 (11), 1512-1526, 2009 | 587 | 2009 |
| Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia AM Steele, BM Shields, KJ Wensley, K Colclough, S Ellard, AT Hattersley Jama 311 (3), 279-286, 2014 | 364 | 2014 |
| 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 |
| 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 |
| 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 |
| 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 |
| Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity‐onset diabetes of the young S Ellard, K Colclough Human mutation 27 (9), 854-869, 2006 | 237 | 2006 |
| Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia A Stride, B Shields, O Gill-Carey, AJ Chakera, K Colclough, S Ellard, ... Diabetologia 57, 54-56, 2014 | 225 | 2014 |
| Persistent Hyperinsulinemic Hypoglycemia and Maturity-Onset Diabetes of the Young Due to Heterozygous HNF4A Mutations RR Kapoor, J Locke, K Colclough, J Wales, JJ Conn, AT Hattersley, ... Diabetes 57 (6), 1659-1663, 2008 | 164 | 2008 |
| Type 1 diabetes genetic risk score: a novel tool to discriminate monogenic and type 1 diabetes KA Patel, RA Oram, SE Flanagan, E De Franco, K Colclough, M Shepherd, ... Diabetes 65 (7), 2094-2099, 2016 | 147 | 2016 |
| Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studies AM Steele, KJ Wensley, S Ellard, R Murphy, M Shepherd, K Colclough, ... PloS one 8 (6), e65326, 2013 | 144 | 2013 |
| Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients BM Shields, M Shepherd, M Hudson, TJ McDonald, K Colclough, J Peters, ... Diabetes Care 40 (8), 1017-1025, 2017 | 141 | 2017 |
| Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C J Rankin, M Auer‐Grumbach, W Bagg, K Colclough, NT Duong, ... American journal of medical genetics Part A 146 (12), 1530-1542, 2008 | 139 | 2008 |
| Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance KA Patel, J Kettunen, M Laakso, A Stančáková, TW Laver, K Colclough, ... Nature communications 8 (1), 888, 2017 | 123 | 2017 |
| Monogenic diabetes: a gateway to precision medicine in diabetes H Zhang, K Colclough, AL Gloyn, TI Pollin The Journal of clinical investigation 131 (3), 2021 | 122 | 2021 |
| Absence of islet autoantibodies and modestly raised glucose values at diabetes diagnosis should lead to testing for MODY: lessons from a 5-year pediatric Swedish national … A Carlsson, M Shepherd, S Ellard, M Weedon, Å Lernmark, G Forsander, ... Diabetes Care 43 (1), 82-89, 2020 | 97 | 2020 |
| Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A–MODY cohort S Bacon, MP Kyithar, SR Rizvi, E Donnelly, A McCarthy, M Burke, ... Diabetic medicine 33 (7), 976-984, 2016 | 92 | 2016 |
| Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity‐onset diabetes of the young (MODY) KL Thomson, AL Gloyn, K Colclough, M Batten, LIS Allen, F Beards, ... Human mutation 22 (5), 417-417, 2003 | 73 | 2003 |
