Associated Papers
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Heath Jeffery RC et al.
Investigative Ophthalmology & Visual Science, 2024
Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.
Tan TE et al.
Diagnostics (basel, Switzerland), 2023
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y et al.
International Journal of Molecular Sciences, 2023
Longitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Heath Jeffery RC et al.
Ophthalmology. Retina, 2023
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Peeters MHCA et al.
Human Mutation, 2021
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2015
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC et al.
Survey of Ophthalmology, 0
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