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 › S1_ACMG_Categorisation.xlsx › Overview_S1
Whole-genome sequencing reveals the evolutionary trajectory of HBV-related hepatocellular carcinoma early recurrence.
Zhou SL et al.
Signal Transduction and Targeted Therapy, 2022
35078970 (PubMed )
Supplement: 41392_2021_838_MOESM2_ESM.xlsx › Table_S3
A novel statistical method for interpreting the pathogenicity of rare variants.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32884132 (PubMed )
Supplement: NIHMS1630822-supplement-Supplementary_Tables.xlsx › S6_ABCA4_variants
Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.
Ravesh Z et al.
Molecular Vision, 2018
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.
Lee W et al.
European Journal of Human Genetics : Ejhg, 2017
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