Katherine A. Fawcett

Common variants in WFS1 confer risk of type 2 diabetes

Manjinder S. Sandhu, Michael N. Weedon, Katherine A. Fawcett et al. · Nature Genetics · 2007 · 381 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

Sinéad M. Murphy, Matilde Laurá, Katherine A. Fawcett et al. · Journal of Neurology Neurosurgery & Psychiatry · 2012 · 372 citations

Life Sciences, Genetics, Molecular Genetics +17

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

Amélie Bonnefond, Nathalie Clément, Katherine A. Fawcett et al. · Nature Genetics · 2012 · 361 citations

Medicine, Endocrinology, Internal Medicine +9

Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia

Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis et al. · Annals of Neurology · 2012 · 178 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy

Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller et al. · Brain · 2015 · 150 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16