Pierre F. Ray

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach et al. · Nature Genetics · 2003 · 860 citations

Life Sciences, Genetics, Molecular Genetics +9

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

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility

Ricardo Soto‐Rifo, A.K. Faure, Sylviane Hennebicq et al. · Nature Genetics · 2007 · 279 citations

Medicine, Genetics, Molecular Genetics +15

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

Nathalie Roux-Buisson, Marine Cacheux, Anne Fourest‐Lieuvin et al. · Human Molecular Genetics · 2012 · 259 citations · Full text

Medicine, Cardiology, Physiology +15

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

Charles Coutton, Amir Amiri‐Yekta, Zine‐Eddine Kherraf et al. · Nature Communications · 2018 · 239 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16