Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Biology, Genetics, Retinitis pigmentosa, Retinal degeneration, Retinal, and Phenotype.
Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism
Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa
Homozygous Knockout of <i>Cep250</i> Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice
Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A
Retinal Structure and Function in a Knock-in Mouse Model for the FAM161A-p.Arg523∗ Human Nonsense Pathogenic Variant
Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci