Vincent R. Harley

The paper identifies and characterizes a novel deep intronic variant in CYB5A causing 46,XY DSD through whole-genome sequencing and functional assays.

This paper reports three novel MAP3K7 variants in 46,XY DSD patients with syndromes CSCF or FMD2, showing their role in male sex differentiation through GATA4/FOG2 expression and Wnt signaling.

The paper develops rat models with modified sex chromosomes to study sex differences in physiology and disease by comparing XX vs. XY and varying X/Y chromosome numbers.

This study investigates the role of TAM family receptors in mouse testis development, finding that their inhibition reduces germ cell numbers and that Tyro3 knockout affects gene expression in germ and Sertoli cells.

This study shows that ATRX mutations in Sertoli cells cause Y chromosome damage, leading to testicular abnormalities and cell death in ATR-X syndrome.

This study conducts a meta-analysis of genetic association studies in transgender cohorts, finding a significant overrepresentation of short ESR1 alleles in transgender women compared to cisgender men.

The paper investigates the role of Mmd2 and related PAQR genes in mouse sex determination, finding no essential function despite their expression in testis development.