Associated Papers
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 2025
41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou
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 › S4_PS4_PM2.xlsx › PS4_AF_FET_PM2_rare
Molecular structures of the eukaryotic retinal importer ABCA4.
Liu F et al.
Elife, 2021
Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.
Chen TC et al.
Npj Genomic Medicine, 2021
33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1
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
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
35154257 (PubMed )
Supplement: DataSheet1.xlsx › 3._Chinese_patients
Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
Sung YC et al.
Genes, 2020
33261146 (PubMed )
Supplement: genes-11-01421-s001.zip › genes-988879-supplementary.xlsx › Table_S2
The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.
Midgley N et al.
Molecular Vision, 2020
ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.
Hu FY et al.
Frontiers in Genetics, 2019
31543898 (PubMed )
Supplement: Table_2.xls › Sheet1
ULTRAWIDEFIELD AUTOFLUORESENCE IN ABCA4 STARGARDT DISEASE.
Klufas MA et al.
Retina (philadelphia, Pa.), 2018
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