Associated Papers
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Yavas C et al.
Clinical Genetics, 2025
ABCA4 variant screening in a Turkish cohort with Stargardt disease.
Sinim Kahraman N et al.
Ophthalmic Genetics, 2024
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
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 › 5._Gnomad-all_variants
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010
ABCA4 disease progression and a proposed strategy for gene therapy.
Cideciyan AV et al.
Human Molecular Genetics, 2009
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