Associated Papers
Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1.
Choi SW et al.
Translational Vision Science & Technology, 2024
Genomic characterization of IDH-mutant astrocytoma progression to grade 4 in the treatment setting.
Rautajoki KJ et al.
Acta Neuropathologica Communications, 2023
37932833 (PubMed )
Supplement: 40478_2023_1669_MOESM1_ESM.xlsx › Table_S3
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
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
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_4.XLSX › Sheet1
Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.
Riera M et al.
The British Journal of Ophthalmology, 2020
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N et al.
Scientific Reports, 2017
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