Maëva Elzaïat

The paper constructs a comparative regulatory atlas of gonad development using mouse and human data, identifies a conserved enhancer critical for gonadal development, and prioritizes non-coding variants in DSD patients.

This study identifies how DHX37 variants disrupt RNA processing and gene expression in Sertoli-like cells, leading to 46,XY sex reversal.

The paper investigates the role of NR2F2/COUP-TFII in human testis development by analyzing a pathogenic variant in a 46,XY DSD patient and shows its impact on steroidogenic lineage activation.

This paper describes in-vitro protocols to differentiate mouse and human pluripotent cells into gonadal progenitors, revealing their functional equivalence to in-vivo cells and modeling DSDs.