Last Updated: 09/26/2026
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Found 44 publications
Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium.
Journal: The Journal of biological chemistry
Published: January 20, 2024
Translation of nonclinical to clinical safety findings for 27 biotherapeutics.
Journal: Toxicology and applied pharmacology
Published: December 07, 2023
Spatial distribution of metabolites in the retina and its relevance to studies of metabolic retinal disorders.
Journal: Metabolomics : Official journal of the Metabolomic Society
Published: June 29, 2022
Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa.
Journal: American journal of ophthalmology
Published: May 30, 2022
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
Journal: Journal of inherited metabolic disease
Published: July 19, 2021
Development challenges associated with rAAV-based gene therapies.
Journal: The Journal of toxicological sciences
Published: February 04, 2021
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
Journal: The British journal of ophthalmology
Published: October 29, 2020
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Journal: Ophthalmology
Published: June 22, 2020
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Journal: Molecular genetics & genomic medicine
Published: April 13, 2020
New variants and in silico analyses in GRK1 associated Oguchi disease.
Journal: Human mutation
Published: March 26, 2020
Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration.
Journal: Translational vision science & technology
Published: December 02, 2019
Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
Journal: The British journal of ophthalmology
Published: August 13, 2019
Last Updated: 09/26/2026