Associated Papers
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Utargetome: A targetome prediction tool for modified U1-snRNAs to identify distal-target positions with improved selectivity.
Pigini P et al.
Plos Computational Biology, 2025
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 2025
40603303 (PubMed )
Supplement: 41525_2025_500_MOESM2_ESM.xlsx › Supplementary_Data_1
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.
Sundaresan Y et al.
Advances in Experimental Medicine and Biology, 2023
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
35246562 (PubMed )
Supplement: 41525_2022_286_MOESM1_ESM.pdf
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.
Wan A et al.
Human Mutation, 2019
30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1
Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid.
Huang D et al.
Vision (basel, Switzerland), 2017
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_4._Deleterious_Natural_Site_Variantsv3.xlsx › Supplementary_Table_4
Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.
Tanner G et al.
Human Mutation, 2009
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