Associated Papers
Development and Validation of a Commercially Available Two Color Dark Adapted Perimetry to Assess Inherited Retinal Degenerations.
Pennesi ME et al.
American Journal of Ophthalmology, 2026
SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization.
Romo-Aguas JC et al.
American Journal of Ophthalmology, 2025
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Testa F et al.
Investigative Ophthalmology & Visual Science, 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
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft.
Ranji P et al.
Human Mutation, 2025
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH et al.
Ophthalmic Genetics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
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
Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P et al.
Plos Genetics, 2021
CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES: Why the Reproductive and Therapeutic Counseling Should Be Addressed Cautiously.
Rodríguez-Muñoz A et al.
Retina (philadelphia, Pa.), 2021
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Colombo L et al.
Investigative Ophthalmology & Visual Science, 2021
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.
Xiao T et al.
Frontiers in Cell and Developmental Biology, 2020
Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200.
Yusuf IH et al.
Jama Ophthalmology, 2019
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
Gerth-Kahlert C et al.
Investigative Ophthalmology & Visual Science, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 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
Mutations in spliceosomal proteins and retina degeneration.
Růžičková Š et al.
Rna Biology, 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
Functions and regulation of the Brr2 RNA helicase during splicing.
Absmeier E et al.
Cell Cycle (georgetown, Tex.), 2016
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.
Tremblay N et al.
Plos Pathogens, 2016
Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.
Coussa RG et al.
Investigative Ophthalmology & Visual Science, 2015
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Wang F et al.
Human Genetics, 2014
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
de Castro-Miró M et al.
Plos One, 2014
Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
Zhang X et al.
Eye (london, England), 2013
Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Molecular Vision, 2013
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.
Liu T et al.
Plos One, 2012
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P et al.
Human Mutation, 2011