Associated Papers
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
Genetic and clinical profile of high myopia patients with rhegmatogenous retinal detachment.
Zhou L et al.
Frontiers in Genetics, 2025
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › VUS
Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.
Wang J et al.
Frontiers in Cell and Developmental Biology, 2021
33681214 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Non-syndromic retinitis pigmentosa.
Verbakel SK et al.
Progress in Retinal and Eye Research, 2018
Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Kabir F et al.
Molecular Vision, 2016
A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
Shah SP et al.
Ophthalmic Genetics, 2014
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC et al.
Plos One, 2014
25032700 (PubMed )
Supplement: pone.0101670.s001.xlsx › Supplementary_Table_1
Identification of a novel p.R1443W mutation in RP1 gene associated with retinitis pigmentosa sine pigmento.
Ma L et al.
International Journal of Ophthalmology, 2013
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