Colin E. Willoughby

Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran‐Fadulu et al. · Nature Genetics · 2007 · 846 citations

Medicine, Cardiology, Surgery +14

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

Gabriele Richard, Fatima Rouan, Colin E. Willoughby et al. · The American Journal of Human Genetics · 2002 · 373 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Jamie E. Craig, Xikun Han, Ayub Qassim et al. · Nature Genetics · 2020 · 360 citations · Full text

Life Sciences, Genetics, Ophthalmology +17

Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract

Anne E. Hughes, Declan Bradley, Malcolm M. Campbell et al. · The American Journal of Human Genetics · 2011 · 278 citations · Full text

Medicine, Genetics, Ophthalmology +6

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 250 citations · Full text

Life Sciences, Genetics, Molecular Biology +7