Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Yavas C et al.
Clinical Genetics, 2025
A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Suga A et al.
Genetics in Medicine Open, 2024
Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.
Beryozkin A et al.
Frontiers in Cell and Developmental Biology, 2021
34722527 (PubMed )
Supplement: Table_2.XLSX › ______1
Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
Huang H et al.
Oncotarget, 2017
Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
Khan AO et al.
The British Journal of Ophthalmology, 2014
The RPGRIP1-related retinal phenotype in children.
Khan AO et al.
The British Journal of Ophthalmology, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Eisenberger T et al.
Plos One, 2013
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