Anne‐Françoise Roux

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott et al. · Human Mutation · 2016 · 1.7K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 559 citations · Full text

Medicine, Genetics, Otolaryngology +12

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

Inga Ebermann, Jennifer B. Phillips, Max C. Liebau et al. · Journal of Clinical Investigation · 2010 · 245 citations · Full text

Medicine, Immunology, Ophthalmology +13

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Nathalie Pallarès-Ruiz, Patricia Blanchet, Michel Mondain et al. · European Journal of Human Genetics · 2002 · 160 citations

Life Sciences, Genetics, Molecular Genetics +13

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

Radulfus WN Slijkerman, Christel Vaché, Margo Dona et al. · Molecular Therapy — Nucleic Acids · 2016 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13