Deborah Shears

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 429 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

Deborah Shears, Humberto Vassal, Frances R. Goodman et al. · Nature Genetics · 1998 · 314 citations

Life Sciences, Genetics, Molecular Genetics +6

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin et al. · Human Mutation · 2010 · 151 citations · Full text

Medicine, Genetics, Ophthalmology +17

De novo, heterozygous, loss‐of‐function mutations in <i>SYNGAP1</i> cause a syndromic form of intellectual disability

Michael Parker, Alan Fryer, Deborah Shears et al. · American Journal of Medical Genetics Part A · 2015 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday et al. · Wellcome Open Research · 2018 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13