Jean‐Pierre Siffroi
Inserm(FR)Sorbonne Université(FR)Hôpital Armand-Trousseau(FR)Assistance Publique – Hôpitaux de Paris(FR)Hôpital d'Enfants(FR)Expression Génétique Microbienne(FR)Maladies génétiques d’expression pédiatrique
Publications by Year
Research Areas
Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities, Sperm and Testicular Function, Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Sexual Differentiation and Disorders
Most-Cited Works
- → In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene(2003)516 cited
- → Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1(2010)245 cited
- → Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia(2012)188 cited
- → Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia(2019)183 cited
- → Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders(2009)160 cited
- → Connexin43 Gene Expression and Regulation in the Rodent Seminiferous Epithelium(2000)115 cited