The genetics of obesity: FTO leads the way KA Fawcett, I Barroso Trends in genetics 26 (6), 266-274, 2010 | 518 | 2010 |
Common variants in WFS1 confer risk of type 2 diabetes MS Sandhu, MN Weedon, KA Fawcett, J Wasson, SL Debenham, A Daly, ... Nature genetics 39 (8), 951-953, 2007 | 477 | 2007 |
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries N Shrine, AL Guyatt, AM Erzurumluoglu, VE Jackson, BD Hobbs, ... Nature genetics 51 (3), 481-493, 2019 | 433 | 2019 |
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing SM Murphy, M Laura, K Fawcett, A Pandraud, YT Liu, GL Davidson, ... Journal of Neurology, Neurosurgery & Psychiatry 83 (7), 706-710, 2012 | 417 | 2012 |
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes A Bonnefond, N Clement, K Fawcett, L Yengo, E Vaillant, JL Guillaume, ... Nature genetics 44 (3), 297-301, 2012 | 412 | 2012 |
Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia J Hersheson, NE Mencacci, M Davis, N MacDonald, D Trabzuni, M Ryten, ... Annals of neurology 73 (4), 546-553, 2013 | 202 | 2013 |
De novo point mutations in patients diagnosed with ataxic cerebral palsy R Parolin Schnekenberg, EM Perkins, JW Miller, WIL Davies, ... Brain 138 (7), 1817-1832, 2015 | 171 | 2015 |
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations PW Franks, O Rolandsson, SL Debenham, KA Fawcett, F Payne, C Dina, ... Diabetologia 51, 458-463, 2008 | 145 | 2008 |
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia S Dash, H Sano, JJ Rochford, RK Semple, G Yeo, CSS Hyden, MA Soos, ... Proceedings of the National Academy of Sciences 106 (23), 9350-9355, 2009 | 127 | 2009 |
SPG7 mutations are a common cause of undiagnosed ataxia G Pfeffer, A Pyle, H Griffin, J Miller, V Wilson, L Turnbull, K Fawcett, ... Neurology 84 (11), 1174-1176, 2015 | 125 | 2015 |
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria AE Fry, KA Fawcett, N Zelnik, H Yuan, BAN Thompson, L Shemer-Meiri, ... Brain 141 (3), 698-712, 2018 | 100 | 2018 |
Dominant mutations in GRM1 cause spinocerebellar ataxia type 44 LM Watson, E Bamber, RP Schnekenberg, J Williams, C Bettencourt, ... The American Journal of Human Genetics 101 (3), 451-458, 2017 | 97 | 2017 |
CGAT: computational genomics analysis toolkit D Sims, NE Ilott, SN Sansom, IM Sudbery, JS Johnson, KA Fawcett, ... Bioinformatics 30 (9), 1290-1291, 2014 | 80 | 2014 |
SCN3A‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation T Zaman, KL Helbig, J Clatot, CH Thompson, SK Kang, K Stouffs, ... Annals of neurology 88 (2), 348-362, 2020 | 74 | 2020 |
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation YT Liu, J Hersheson, V Plagnol, K Fawcett, KEC Duberley, E Preza, ... Journal of Neurology, Neurosurgery & Psychiatry 85 (5), 493-498, 2014 | 69 | 2014 |
Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in UK Populations KA Fawcett, N Grimsey, RJF Loos, E Wheeler, A Daly, M Soos, R Semple, ... Diabetes 57 (9), 2527-2533, 2008 | 63 | 2008 |
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk N Shrine, AG Izquierdo, J Chen, R Packer, RJ Hall, AL Guyatt, C Batini, ... Nature genetics 55 (3), 410-422, 2023 | 61 | 2023 |
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance CJ Sumner, C d’Ydewalle, J Wooley, KA Fawcett, D Hernandez, ... The American Journal of Human Genetics 93 (5), 976-983, 2013 | 60 | 2013 |
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk KA Fawcett, E Wheeler, AP Morris, SL Ricketts, G Hallmans, ... Diabetes 59 (3), 741-746, 2010 | 43 | 2010 |
Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC). Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes A Bonnefond, N Clément, K Fawcett, L Yengo, E Vaillant, JL Guillaume, ... Nat Genet 44 (3), 297-301, 2012 | 41 | 2012 |