Associated Papers
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.
Li CHZ et al.
Ophthalmology, 2024
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
37705246 (PubMed )
Supplement: mmc8.xlsx › Table_S9
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
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Runhart EH et al.
Acta Ophthalmologica, 2022
Stargardt disease: Multimodal imaging: A review.
Heath Jeffery RC et al.
Clinical & Experimental Ophthalmology, 2021
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
Highly Variable Disease Courses in Siblings with Stargardt Disease.
Valkenburg D et al.
Ophthalmology, 2019
Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
Schroeder M et al.
Molecular Vision, 2018
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.
Lambertus S et al.
Plos One, 2017
Early-onset stargardt disease: phenotypic and genotypic characteristics.
Lambertus S et al.
Ophthalmology, 2015
Foveal sparing in Stargardt disease.
van Huet RA et al.
Investigative Ophthalmology & Visual Science, 2014
Outcome of ABCA4 microarray screening in routine clinical practice.
Ernest PJ et al.
Molecular Vision, 2009
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Jaakson K et al.
Human Mutation, 2003
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
Maugeri A et al.
American Journal of Human Genetics, 1999
Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration.
Abousy M et al.
Ophthalmology Science, 0
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