Jean‐Pierre Siffroi

In Vitro Fertilization May Increase the Risk of Beckwith-Wiedemann Syndrome Related to the Abnormal Imprinting of the KCNQ1OT Gene

Christine Gicquel, Véronique Gaston, Jacqueline Mandelbaum et al. · The American Journal of Human Genetics · 2003 · 514 citations · Full text

Infertility, Developmental Biology, Fertility +10

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço et al. · The American Journal of Human Genetics · 2010 · 244 citations · Full text

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

Developmental Biology, Pathology, Outer Dynein Arms +5

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 · 179 citations · Full text

Infertility, Andrology, Fertility +10

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron et al. · Biological Psychiatry · 2009 · 159 citations · Full text

Methylation Abnormalities, Autism Spectrum Disorders, Medicine +11