Area of research
Molecular Biology · Genetics
Research interest
Research interests include Retinal Development and Disorders, Genomics and Rare Diseases, CRISPR and Genetic Engineering, and Ocular Disorders and Treatments.
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity
A de novo paradigm for male infertility
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome