Associated Papers
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
A practical framework for predicting splicing single nucleotide variants in exome sequencing.
Utsuno Y et al.
Nar Genomics and Bioinformatics, 2025
41424762 (PubMed )
Supplement: lqaf180_supplemental_files.zip › Supplementary_Tables_final.xlsx › Table_S7
QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.
Kaltak M et al.
Scientific Reports, 2024
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM3_ESM.xlsx › Table_3_Minigene_studies__n_61_
Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV et al.
Human Mutation, 2021
33942434 (PubMed )
Supplement: HUMU-42-799-s001.xlsx › ABCA4_NCSS
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Sangermano R et al.
Genome Research, 2018
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