Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Retinal Development and Disorders, Retinal Diseases and Treatments, Ocular Disorders and Treatments, and Connexins and lens biology.
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Feasibility of Direct Vitrectomy-Sparing Subretinal Injection for Gene Delivery in Large Animals
Metabolic and neuroactivity imbalances in plasma from aniridia patients with <i>PAX6</i> haploinsufficiency
Successful large gene augmentation of USH2A with non-viral episomal vectors
Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene <i>IFT140</i>
Clinical utility gene card for: Wolfram syndrome
Safety Profile of Stromal Hydration of Clear Corneal Incisions with Cefuroxime in the Mouse Model