Florence Dastot‐Le Moal

Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

Kalotina Machinis, Jacques Pantel, Irène Netchine et al. · The American Journal of Human Genetics · 2001 · 273 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +8

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 LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Esther Kott, Philippe Duquesnoy, Bruno Copin et al. · The American Journal of Human Genetics · 2012 · 188 citations · Full text

Developmental Biology, Pathology, Outer Dynein Arms +5

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