Jouk, Pierre Simon

Top Publications

Top Publications Authored or Co-Authored by "Jouk, Pierre Simon"

• Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

  American Journal of Human Genetics, Volume 94, No. 1, Year 2014, Citations 316
• Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility

  Nature Genetics, Volume 39, No. 5, Year 2007, Citations 254
• A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation

  American Journal of Human Genetics, Volume 88, No. 3, Year 2011, Citations 172
• Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

  Nature Communications, Volume 9, No. 1, Article 686, Year 2018, Citations 163
• The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

  Human Molecular Genetics, Volume 18, No. 7, Year 2009, Citations 104