Sandra Rojo

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

An ancient protein-DNA interaction underlying metazoan sex determination

Mark W. Murphy, John K. Lee, Sandra Rojo et al. · Nature Structural & Molecular Biology · 2015 · 123 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

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

Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)

Capucine Hyon, Sandra Chantot‐Bastaraud, Radu Harbuz et al. · American Journal of Medical Genetics Part A · 2015 · 62 citations · Full text

Medicine, Genetics, Molecular Genetics +16

The TALE homeodomain of PBX1 is involved in human primary testis‐determination

Caroline Eozénou, Anu Bashamboo, Joëlle Bignon‐Topalovic et al. · Human Mutation · 2019 · 18 citations

Life Sciences, Genetics, Molecular Genetics +16