Associated Papers
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Cevik S et al.
Advances in Experimental Medicine and Biology, 2025
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.
Aslaksen S et al.
Investigative Ophthalmology & Visual Science, 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
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP et al.
Acta Ophthalmologica, 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
The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems-A Systematic Review.
Piotter E et al.
Frontiers in Genetics, 2021
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
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M et al.
International Journal of Molecular Sciences, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.
Biswas-Fiss EE et al.
The Journal of Biological Chemistry, 2012
Genetic factors associated with age-related macular degeneration.
Leveziel N et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2011
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.
Michaelides M et al.
The British Journal of Ophthalmology, 2007
Interaction of the nucleotide binding domains and regulation of the ATPase activity of the human retina specific ABC transporter, ABCR.
Biswas-Fiss EE
Biochemistry, 2006
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.
Suárez T et al.
The Journal of Biological Chemistry, 2002
ABCR gene analysis in familial exudative age-related macular degeneration.
Souied EH et al.
Investigative Ophthalmology & Visual Science, 2000