Genetics

Twists and Turns: What Retinal Vessel Tortuosity is Trying to Tell Us

Invited Grand Rounds talk on COL4A1-related vasculopathy with emphasis on ocular findings, diagnostic strategy, translational validation, and functional characterization of …

A novel splice variant in COL4A1 results in retinal arterial tortuosity and HANAC syndrome in a multi-generational family

Abstract on our ophthalmology-led diagnosis and study of COL4A1 vasculopathy enabled by functional assays and computational methods

ehsan-misaghi

Investigating the Role of PIKFYVE in the Retinal Pigment Epithelium

ARVO conference abstract on PIKFYVE-related retinal disease mechanisms in retinal pigment epithelium

ehsan-misaghi

Investigating the Role of PIKFYVE in the Retinal Pigment Epithelium

Research presentation on PIKFYVE and retinal pigment epithelium biology in inherited retinal disease

ehsan-misaghi

Novel Contributors to Superior Coloboma and the Closure of the Superior Ocular Sulcus

Conference presentation on genetic/developmental contributors to superior coloboma

ehsan-misaghi
Applications of AI in Genetics and Genomics featured image

Applications of AI in Genetics and Genomics

Lecture on applied AI in genomic medicine for the AI in Medicine Course (AIMSS, 2022).