Philip Stanier

Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse

John A. Curtin, Elizabeth Quint, Vicky Tsipouri et al. · Current Biology · 2003 · 622 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS

Veronica A. Kinsler, Anna Thomas, Miho Ishida et al. · Journal of Investigative Dermatology · 2013 · 346 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Xavier Estivill, Martin Farrall, Peter Scambler et al. · Nature · 1987 · 336 citations

Life Sciences, Genetics, Molecular Genetics +13

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia

Claire Braybrook, Kit Doudney, Ana Carolina B. Marçano et al. · Nature Genetics · 2001 · 266 citations

Dentistry, Genetics, Molecular Genetics +13

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn et al. · Nature Genetics · 2011 · 263 citations

Life Sciences, Genetics, Molecular Genetics +12