Associated Papers
Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.
Pas JAAH et al.
Investigative Ophthalmology & Visual Science, 2026
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
38219857 (PubMed )
Supplement: mmc1.pdf
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Daich Varela M et al.
Ophthalmology, 2023
37331482 (PubMed )
Supplement: mmc1.pdf
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 › S2_PVS1.xlsx › Nonsense_or_Frameshift
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
36178783 (PubMed )
Supplement: tvst-11-9-34_s002.pdf
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
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.
Georgiou M et al.
American Journal of Ophthalmology, 2020
31812472 (PubMed )
Supplement: mmc1.pdf
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K et al.
The British Journal of Ophthalmology, 2019
29925512 (PubMed )
Supplement: NIHMS1029613-supplement-Supplemental_Table_2.pdf
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Khan KN et al.
Ophthalmology, 2018
29310964 (PubMed )
Supplement: mmc2.pdf
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Fujinami K et al.
Ophthalmology, 2015
Early-onset stargardt disease: phenotypic and genotypic characteristics.
Lambertus S et al.
Ophthalmology, 2015
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