Associated Papers
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis.
Wang R et al.
Briefings in Bioinformatics, 2023
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford JM et al.
Genome Medicine, 2022
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Fadaie Z et al.
Journal of Medical Genetics, 2022
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
34663891 (PubMed )
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