Thanh Nha Uyen Le

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.

This study identifies MFSD7c as a choline transporter at the blood-brain barrier and links its dysfunction to Fowler syndrome.

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 shows that Mfsd2b and Spns2 are essential for embryonic vascular development and vascular homeostasis, and their loss leads to severe hemorrhage and anaphylaxis susceptibility.