Bignon-Topalovic, Joelle

Top Publications

Top Publications Authored or Co-Authored by "Bignon-Topalovic, Joelle"

• Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

  American Journal of Human Genetics, Volume 87, No. 4, Year 2010, Citations 224
• Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

  Human Molecular Genetics, Volume 27, No. 7, Year 2018, Citations 59
• ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

  Proceedings of the National Academy of Sciences of the United States of America, Volume 115, No. 21, Year 2018, Citations 54
• Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

  Proceedings of the National Academy of Sciences of the United States of America, Volume 117, No. 24, Year 2020, Citations 37
• Identification of NR5A1 mutations and possible digenic inheritance in 46,XY gonadal dysgenesis

  Sexual Development, Volume 10, No. 3, Year 2016, Citations 34