Area of research
Ophthalmology · Molecular Biology
Research interest
Research interests include Genetics, Biology, Retinitis pigmentosa, Compound heterozygosity, Missense mutation, and Macular degeneration.
Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant
Retinitis pigmentosa caused by mutations in the ciliary <i><scp>MAK</scp></i> gene is relatively mild and is not associated with apparent extra‐ocular features
A functional variant in the CFI gene confers a high risk of age-related macular degeneration
BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome