Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Retinal Development and Disorders, Ocular Disorders and Treatments, Retinal Diseases and Treatments, and Glaucoma and retinal disorders.
Unravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia
Genetic and clinical landscape of<i>ARR3</i>-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance
Clinical and genetic features of retinoschisis in 120 families with<i>RS1</i>mutations
Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes
Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing