Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Retinal Development and Disorders, Retinal Diseases and Treatments, Glaucoma and retinal disorders, and Photoreceptor and optogenetics research.
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium's Gene Poll
Assessment of Visual Function with Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa in the Randomized XIRIUS Phase 2/3 Study
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration
An Open-Label Phase II Study Assessing the Safety of Bilateral, Sequential Administration of Retinal Gene Therapy in Participants with Choroideremia: The GEMINI Study
Comparative analysis of <i>in-silico</i> tools in identifying pathogenic variants in dominant inherited retinal diseases
Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study
Subretinal timrepigene emparvovec in adult men with choroideremia: a randomized phase 3 trial
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
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
Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium
The RUSH2A Study: Best-Corrected Visual Acuity, Full-Field Electroretinography Amplitudes, and Full-Field Stimulus Thresholds at Baseline
Disease Course in Patients With Pentosan Polysulfate Sodium–Associated Maculopathy After Drug Cessation
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
Interocular Symmetry of Foveal Cone Topography in Congenital Achromatopsia
Phenotypic Spectrum of Pentosan Polysulfate Sodium–Associated Maculopathy
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa
Detailed Clinical Phenotype and Molecular Genetic Findings in <i>CLN3</i>-Associated Isolated Retinal Degeneration
Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA
Residual Foveal Cone Structure in <i>CNGB3</i>-Associated Achromatopsia
Long-term Follow-up of Patients With Retinitis Pigmentosa Receiving Intraocular Ciliary Neurotrophic Factor Implants
Optical Coherence Tomography Angiography in Choroideremia
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders
Quantitative optical coherence tomography angiography of vascular abnormalities in the living human eye
Animal models of age related macular degeneration