Enid S Chelva
3PUBLICATIONS
21CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (3)
Sort by Publication Date:
|Jun 02, 2025
CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.Jonathan A Alexis, Prathiba Ramakrishnan, Matthew K Kenworthy
|Jan 29, 2021
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).Juanita Pappalardo, Rachael C Heath Jeffery, Jennifer A Thompson
|Jul 07, 2020
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.Di Huang, Jennifer A Thompson, Jason Charng
Pageof 1
Frequent Collaborators
3 joint publications
Jennifer A Thompson
3 joint publications
Fred K Chen
2 joint publications
Terri L McLaren
2 joint publications
Tina M Lamey
2 joint publications
Ian J Constable
2 joint publications
John N De Roach
1 joint publications
Di Huang
1 joint publications
Jason Charng
1 joint publications
Samuel McLenachan
1 joint publications
Shang-Chih Chen
