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 › S2_PVS1.xlsx › Nonsense_or_Frameshift
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Heath Jeffery RC et al.
Genes, 2021
34946930 (PubMed )
Supplement: genes-12-01981-s001.zip › genes-1479134-supplementary.pdf
Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang D et al.
Molecular Genetics & Genomic Medicine, 2020
Censoring the Floor Effect in Long-Term Stargardt Disease Microperimetry Data Produces a Faster Rate of Decline.
Charng J et al.
Ophthalmology Science, 0
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