Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Retinal Development and Disorders, Retinal Diseases and Treatments, Ophthalmology and Visual Impairment Studies, and Glaucoma and retinal disorders.
Gene therapy in children with AIPL1-associated severe retinal dystrophy: an open-label, first-in-human interventional study
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
Retinograd-AI: An Open-Source Automated Fundus Autofluorescence Retinal Image Gradability Assessment for Inherited Retinal Diseases
Automated Quantification of Decreased FAF in Stargardt Disease: Validation of a Novel Method Compared to Manual Grading Standards
Phase 1/2 AAV5-hRKp.RPGR (Botaretigene Sparoparvovec) Gene Therapy: Safety and Efficacy in RPGR-Associated X-Linked Retinitis Pigmentosa
Representation of Women Among Individuals With Mild Variants in <i>ABCA4</i>-Associated Retinopathy
Neuropathy target esterase activity defines phenotypes among <i>PNPLA6</i> disorders
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
RNA-based therapies in inherited retinal diseases
Clinical outcomes of a trifocal compared with an extended depth of focus IOL following bilateral cataract surgery
The Kinase Chemogenomic Set (KCGS): An Open Science Resource for Kinase Vulnerability Identification
ATF6 is essential for human cone photoreceptor development
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure
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
Visual hallucinations in neurological and ophthalmological disease: pathophysiology and management
Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline
The genetic landscape of crystallins in congenital cataract
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia
Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period
<i>SSBP1</i> mutations in dominant optic atrophy with variable retinal degeneration
Characterization of Retinal Structure in <i>ATF6</i>-Associated Achromatopsia