Associated Papers
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
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
36259723 (PubMed )
Supplement: HUMU-43-2234-s006.xlsx › Overview__Class_3-5
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
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Fadaie Z et al.
Human Mutation, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30670881 (PubMed )
Supplement: 41436_2018_420_MOESM1_ESM.xlsx › Table_S1
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