Esther Kott

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

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

Delineation of <i>CCDC39/CCDC40</i> mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Sylvain Blanchon, Marie Legendre, Bruno Copin et al. · Journal of Medical Genetics · 2012 · 90 citations

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Marie Legendre, Sylvain Blanchon, Bruno Copin et al. · Cilia · 2012 · 71 citations · Full text