Area of research
Molecular Biology · Ophthalmology
Research interest
Research interests include Retinal Development and Disorders, Retinal Diseases and Treatments, Glaucoma and retinal disorders, and Genetic and Kidney Cyst Diseases.
Genetic Associations of Rod- and Cone-Mediated Vision in Aging and Age-Related Macular Degeneration
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an <i>ELOVL4</i> mutation
Two-color pupillometry in KCNV2 retinopathy
The ARMS2 A69S Polymorphism Is Associated with Delayed Rod-Mediated Dark Adaptation in Eyes at Risk for Incident Age-Related Macular Degeneration
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration
Preparation and evaluation of human choroid extracellular matrix scaffolds for the study of cell replacement strategies
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in<i>PRPH2</i>and Protein Haplotypes in<i>trans</i>as Modifiers
Phenotypic Variation in a Family With Pseudodominant Stargardt Disease
Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations
Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis
Cone and Rod Loss in Stargardt Disease Revealed by Adaptive Optics Scanning Light Ophthalmoscopy
Predicting Progression of<i>ABCA4</i>-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front
Generating iPSC-Derived Choroidal Endothelial Cells to Study Age-Related Macular Degeneration
Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in<i>CEP290</i>Leber Congenital Amaurosis Patients
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial
Genetic Testing for Age-Related Macular Degeneration
Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (<i>PRPH2</i>) Causing Autosomal Dominant Retinal Dystrophies
Concise Review: Patient-Specific Stem Cells to Interrogate Inherited Eye Disease
Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in<i>KIF11</i>
Heterozygous Triplication of Upstream Regulatory Sequences Leads to Dysregulation of Matrix Metalloproteinase 19 in Patients with Cavitary Optic Disc Anomaly
Apparent Usher Syndrome Caused by the Combination of<i>BBS1</i>-Associated Retinitis Pigmentosa and<i>SLC26A4</i>-Associated Deafness
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype
Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases
Heterozygous Deep-Intronic Variants and Deletions in<i>ABCA4</i>in Persons with Retinal Dystrophies and One Exonic<i>ABCA4</i>Variant
Mechanical properties of murine and porcine ocular tissues in compression