Andrew Henrik Sinclair

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 shows that COUP-TFII is essential for maintaining the multipotent state of bipotential gonad cells and preventing their commitment to the testicular pathway.

The paper identifies HNF1B dysfunction as a cause of Mayer-Rokitansky-Küster-Hauser syndrome using genomic analysis and mouse models.

The paper generates a transgenic mouse model expressing human SRY to study its role in sex determination and DSD, identifying functional domains and mutations.