Denise Escalier

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

Mariem Ben Khelifa, Charles Coutton, Raoudha Zouari et al. · The American Journal of Human Genetics · 2013 · 479 citations · Full text

Medicine, Genetics, Molecular Genetics +16

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne‐Christine Merveille, Erica E. Davis, Anita Becker-Heck et al. · Nature Genetics · 2010 · 345 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

Bénédicte Duriez, Philippe Duquesnoy, Estelle Escudier et al. · Proceedings of the National Academy of Sciences · 2007 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

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

Life Sciences, Genetics, Molecular Genetics +12

Loss-of-Function Mutations in the Human Ortholog of Chlamydomonas reinhardtii ODA7 Disrupt Dynein Arm Assembly and Cause Primary Ciliary Dyskinesia

Philippe Duquesnoy, Estelle Escudier, Laetitia Vincensini et al. · The American Journal of Human Genetics · 2009 · 155 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +14