Caroline Eozénou

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

Anu Bashamboo, Patricia A. Donohoue, Éric Vilain et al. · Human Molecular Genetics · 2016 · 131 citations · Full text

Medicine, Genetics, Molecular Genetics +17

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

Abigail Harris, Pam Siggers, Silvia Corrochano et al. · Proceedings of the National Academy of Sciences · 2018 · 119 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Anu Bashamboo, Caroline Eozénou, Anne Jørgensen et al. · The American Journal of Human Genetics · 2018 · 103 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( <i>WT1</i> ) gene

Caroline Eozénou, Nitzan Gonen, María Sol Touzón et al. · Proceedings of the National Academy of Sciences · 2020 · 86 citations · Full text

Life Sciences, Developmental Biology, Genetics +17

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Marie‐France Portnoï, Marie-Charlotte Dumargne, Sandra Rojo et al. · Human Molecular Genetics · 2018 · 85 citations · Full text

Medicine, Genetics, Molecular Genetics +15