Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
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
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H et al.
Molecular Genetics & Genomic Medicine, 2020
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Zhang J et al.
Gene, 2019
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu F et al.
The Journal of Biological Chemistry, 2017
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI et al.
Orphanet Journal of Rare Diseases, 2016
27628848 (PubMed )
Supplement: 13023_2016_505_MOESM1_ESM.pdf
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
de Castro-Miró M et al.
Plos One, 2014
Mutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.
Pan X et al.
Molecular Vision, 2014
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.
Branham K et al.
Investigative Ophthalmology & Visual Science, 2012
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D et al.
American Journal of Human Genetics, 2003
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