Nathalie Collot

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

Nadège Bondurand, Florence Dastot‐Le Moal, Laure Stanchina et al. · The American Journal of Human Genetics · 2007 · 256 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin et al. · The American Journal of Human Genetics · 2013 · 179 citations · Full text

Radial-spoke Defects, Pathology, Loss-of-function Mutations +3

ZFHX1B mutations in patients with Mowat-Wilson syndrome

Florence Dastot‐Le Moal, Meredith Wilson, David Mowat et al. · Human Mutation · 2007 · 142 citations

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

Elma El Khouri, Lucie Thomas, Ludovic Jeanson et al. · The American Journal of Human Genetics · 2016 · 101 citations · Full text

Hsp40 Family Member, Genetic Disorder, Genetics +6

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

Ludovic Jeanson, Bruno Copin, Jean‐François Papon et al. · The American Journal of Human Genetics · 2015 · 96 citations · Full text

Near Absence, Pathology, Radial Spokes +1