Associated Papers
Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.
Barberán-Martínez P et al.
The Journal of Molecular Diagnostics : Jmd, 2026
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.
Wheway G et al.
Experimental Eye Research, 2020
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
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
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
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
Pomares E et al.
European Journal of Human Genetics : Ejhg, 2010
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Li A et al.
American Journal of Human Genetics, 2004
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