Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.
Pennesi ME et al.
American Journal of Ophthalmology, 2026
Expanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.
Amaral RAS et al.
Experimental Biology and Medicine (maywood, N.j.), 2026
Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Hong YJ et al.
Annals of Laboratory Medicine, 2025
Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.
Hang C et al.
American Journal of Ophthalmology, 2025
A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.
Loewen AD et al.
Investigative Ophthalmology & Visual Science, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
Single-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives.
Nguyen L et al.
Genes, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2025
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2025
In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.
Hu S et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
A comprehensive map of missense trafficking variants in rhodopsin and their response to pharmacologic correction.
Manian KV et al.
Biorxiv : the Preprint Server for Biology, 2025
Endoplasmic reticulum stress and rhodopsin accumulation in an organoid model of Retinitis Pigmentosa carrying a RHO pathogenic variant.
Navinés-Ferrer A et al.
Stem Cell Research & Therapy, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.
Trastulli G et al.
Genes, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Modeling autosomal dominant retinitis pigmentosa by using patient-specific retinal organoids with a class-3 RHO mutation.
Lin X et al.
Experimental Eye Research, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Allele-specific gene-editing approach for vision loss restoration in RHO-associated retinitis pigmentosa.
Liu X et al.
Elife, 2023
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH et al.
Ophthalmic Genetics, 2023
Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.
Sakai D et al.
Japanese Journal of Ophthalmology, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Peter VG et al.
Pnas Nexus, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.
Zhen F et al.
Frontiers in Neuroscience, 2023
Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.
Jung YH et al.
Frontiers in Genetics, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.
Roushar FJ et al.
The Journal of Biological Chemistry, 2022
CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.
Kaukonen M et al.
Genes, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Retinal degeneration in humanized mice expressing mutant rhodopsin under the control of the endogenous murine promoter.
Liu X et al.
Experimental Eye Research, 2022
Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
Shen C et al.
Molecular Vision, 2022
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Perea-Romero I et al.
Human Genetics, 2021
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
Bai Z et al.
Bmc Medical Genomics, 2021
Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N et al.
International Journal of Molecular Sciences, 2021
Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model.
Patrizi C et al.
American Journal of Human Genetics, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.
Felline A et al.
Computational and Structural Biotechnology Journal, 2021
Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis Pigmentosa.
Meng D et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2020