Associated Papers
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
Gupta PR et al.
Molecular Vision, 2022
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
Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
Silva RS et al.
Scientific Reports, 2020
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
30718709 (PubMed )
Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C et al.
Plos One, 2017
Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
El Shamieh S et al.
Biomed Research International, 2015
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