Associated Papers
Inner Retina Changes in ABCA4-Related Retinopathy: Structure-Function Relationship.
Coppé AM et al.
Investigative Ophthalmology & Visual Science, 2025
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.
Chacon-Camacho OF et al.
Molecular Genetics and Genomics : Mgg, 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: mmc9.xlsx › Table_S11
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
35260635 (PubMed )
Supplement: 41598_2022_7618_MOESM1_ESM.pdf
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Lee W et al.
Jci Insight, 2022
34874912 (PubMed )
Supplement: jciinsight-7-156154-s173.xlsx › Sheet1
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
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Jauregui R et al.
Investigative Ophthalmology & Visual Science, 2020
32298433 (PubMed )
Supplement: iovs-61-4-13_s001.pdf
Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease.
Xiang Q et al.
Bioscience Reports, 2019
Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene.
Abed E et al.
Clinical & Experimental Ophthalmology, 2018
Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation.
Rossi S et al.
Case Reports in Ophthalmology, 2012
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
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