Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Genetics, Biology, Missense mutation, Retinitis pigmentosa, Medicine, and Exome sequencing.
Neuropathy target esterase activity defines phenotypes among <i>PNPLA6</i> disorders
Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
Detailed Clinical Phenotype and Molecular Genetic Findings in <i>CLN3</i>-Associated Isolated Retinal Degeneration
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Molecular and Clinical Findings in Patients With Knobloch Syndrome
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i>
Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of<i>RBP3</i>Is Associated With High Myopia and Retinal Dystrophy