S. Tissier

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Marjorie Whitfield, Lucie Thomas, Émilie Béquignon et al. · The American Journal of Human Genetics · 2019 · 195 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Germline<i>SFTPA1</i>mutation in familial idiopathic interstitial pneumonia and lung cancer

Nadia Nathan, Violaine Giraud, C. Picard et al. · Human Molecular Genetics · 2016 · 145 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +17

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 · 104 citations · Full text

Medicine, Genetics, Molecular Genetics +9

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 · 99 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +7

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

Lucie Thomas, Khaled Bouhouche, Marjorie Whitfield et al. · The American Journal of Human Genetics · 2020 · 73 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9