Associated Papers
Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Rodilla C et al.
International Journal of Molecular Sciences, 2025
40332496 (PubMed )
Supplement: ijms-26-03825-s001.zip › ijms-3500701-supplementary › RodillaC_LR-WGS_reviewed_Supplementary.xlsx › Table_S2
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.
Vázquez-Domínguez I et al.
Molecular Therapy. Nucleic Acids, 2024
39494150 (PubMed )
Supplement: mmc1.pdf
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Cornelis SS et al.
Human Mutation, 2023
40225145 (PubMed )
Supplement: 6815504.f1.zip › S10_PS3_BS3.xlsx › Functional_data_overview
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