Marie-Charlotte Dumargne

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

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

High-Resolution Profiling of Novel Transcribed Regions During Rat Spermatogenesis1

Frédéric Chalmel, Aurélie Lardenois, Bertrand Evrard et al. · Biology of Reproduction · 2014 · 53 citations · Full text

Life Sciences, Genetics, Molecular Biology +8

Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism

Donovan Chan, Xiaojian Shao, Marie-Charlotte Dumargne et al. · Environmental Health Perspectives · 2019 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development

Sally Tantawy, Inas Mazen, Hala Soliman et al. · European Journal of Endocrinology · 2014 · 39 citations

Medicine, Endocrinology, Genetics +17