Associated Papers
Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.
Wang J et al.
Acta Ophthalmologica, 2022
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
A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa.
Wheway G et al.
Frontiers in Genetics, 2019
A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.
Bhatia S et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
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 pilot investigation of audiovisual processing and multisensory integration in patients with inherited retinal dystrophies.
Myers MH et al.
Bmc Ophthalmology, 2017
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
Clinical and genetic identification of a large chinese family with autosomal dominant retinitis pigmentosa.
Yang Y et al.
Ophthalmic Genetics, 2015
Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
Blanco-Kelly F et al.
Molecular Vision, 2012
Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.
Xu F et al.
Molecular Vision, 2012
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Audo I et al.
Bmc Medical Genetics, 2010
Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
Sullivan LS et al.
Investigative Ophthalmology & Visual Science, 2006
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