Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Retinal Development and Disorders, Retinal Diseases and Treatments, Glaucoma and retinal disorders, and Retinal Imaging and Analysis.
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Identification of blood-derived DNA methylation biomarkers of glaucoma and intraocular pressure measurements in three European ancestry cohorts including the Canadian longitudinal study on aging
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases
Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
GWAS on retinal vasculometry phenotypes
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia
Retinal Ganglion Cells—Diversity of Cell Types and Clinical Relevance
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy
Effect of varying skin surface electrode position on electroretinogram responses recorded using a handheld stimulating and recording system
Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes
Transient Smartphone “Blindness”
Prevalence of refractive error in Europe: the European Eye Epidemiology (E3) Consortium
The Heritability of the Ring-Like Distribution of Macular Pigment Assessed in a Twin Study