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Katherine Alice Fawcett
Katherine Alice Fawcett
Verified email at dpag.ox.ac.uk
Title
Cited by
Cited by
Year
The genetics of obesity: FTO leads the way
KA Fawcett, I Barroso
Trends in genetics 26 (6), 266-274, 2010
4912010
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
4682007
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
3982012
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
3932012
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
3782019
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
1922013
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
1602015
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
1412008
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
1262009
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
1192015
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
892017
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
882018
CGAT: computational genomics analysis toolkit
D Sims, NE Ilott, SN Sansom, IM Sudbery, JS Johnson, KA Fawcett, ...
Bioinformatics 30 (9), 1290-1291, 2014
762014
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
662014
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
622020
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
612008
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
542013
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
422010
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
372012
The metabolic syndrome-associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion
N Rocha, F Payne, I Huang-Doran, A Sleigh, K Fawcett, C Adams, ...
Scientific reports 7 (1), 17593, 2017
342017
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