Associated Papers
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Cevik S et al.
Advances in Experimental Medicine and Biology, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 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
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Lee W et al.
Human Molecular Genetics, 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
Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.
Garces FA et al.
International Journal of Molecular Sciences, 2020
Multimodal analysis of the Preferred Retinal Location and the Transition Zone in patients with Stargardt Disease.
Verdina T et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2017
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Zernant J et al.
Journal of Medical Genetics, 2017
Stargardt disease-associated mutation spectrum of a Russian Federation cohort.
Zolnikova IV et al.
European Journal of Medical Genetics, 2017
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2015
Quantitative fundus autofluorescence in recessive Stargardt disease.
Burke TR et al.
Investigative Ophthalmology & Visual Science, 2014
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).
Burke TR et al.
Investigative Ophthalmology & Visual Science, 2011
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
Mandal MN et al.
Investigative Ophthalmology & Visual Science, 2005
Biochemical defects in ABCR protein variants associated with human retinopathies.
Sun H et al.
Nature Genetics, 2000
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Lewis RA et al.
American Journal of Human Genetics, 1999