Invited Grand Rounds talk on COL4A1-related vasculopathy with emphasis on ocular findings, diagnostic strategy, translational validation, and functional characterization of …
Poster presentation on COL4A1 vasculopathy, functional interpretation of a novel splice variant causing retinal arterial tortuosity and HANAC syndrome
Abstract on our ophthalmology-led diagnosis and study of COL4A1 vasculopathy enabled by functional assays and computational methods
Abstract on our ophthalmology-led diagnosis and study of COL4A1 vasculopathy enabled by functional assays and computational methods
ARVO conference abstract on PIKFYVE-related retinal disease mechanisms in retinal pigment epithelium
Research presentation on PIKFYVE and retinal pigment epithelium biology in inherited retinal disease
Clinically grounded research focused on COL4A1-related vasculopathy with emphasis on ophthalmic findings and translational implications.