Ludovic Jeanson

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

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali Patel, Amelia Shoemark et al. · Nature Communications · 2017 · 150 citations · Full text

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