Estelle Talouarn

A conserved regulatory atlas reveals enhancers critical for mouse and human gonadal development

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.

Altered RNA-processing provides a mechanistic framework delineating human sex reversal associated with pathogenic variants in the RNA-helicase DHX37

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

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.