Associated Papers
Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study.
Eriksen KO et al.
Acta Ophthalmologica, 2025
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 2025
40877827 (PubMed )
Supplement: 12920_2025_2186_MOESM3_ESM.pdf
Determinants of Disease Penetrance in PRPF31-Associated Retinopathy.
McLenachan S et al.
Genes, 2021
Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11.
Roshandel D et al.
Genes, 2021
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa.
Kiser K et al.
American Journal of Ophthalmology, 2019
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2018
A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer.
Zheng Y et al.
International Journal of Ophthalmology, 2018
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Martin-Merida I et al.
Investigative Ophthalmology & Visual Science, 2017
Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
Abdulridha-Aboud W et al.
Molecular Vision, 2016
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.
Venturini G et al.
Plos Genetics, 2012
Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.
Chakarova CF et al.
Molecular Vision, 2006
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