Daniel Sanchez-Mendoza

The paper shows that loss of Hippo signaling components yap1 and wwtr1 causes transdifferentiation of neural retina at the optic fissure, leading to coloboma.

This study identifies six rare variants in NR6A1 in six families with oculo-vertebral-renal syndrome, demonstrating their pathogenicity through in silico, cellular, and zebrafish experiments.