Associated Papers
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.
Cobos E et al.
Investigative Ophthalmology & Visual Science, 2026
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
Zee A et al.
Translational Vision Science & Technology, 2025
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.
Corradi Z et al.
International Journal of Molecular Sciences, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Avidity sequencing of whole genomes from retinal degeneration pedigrees identifies causal variants.
Biswas P et al.
Plos One, 2024
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L et al.
Jama Ophthalmology, 2023
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
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
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.
Lee W et al.
Ophthalmology. Retina, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Lee W et al.
Jci Insight, 2022
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Mena MD et al.
Frontiers in 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
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
Zernant J et al.
Cold Spring Harbor Molecular Case Studies, 2018
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
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
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.
Abed E et al.
Journal of Ophthalmology, 2017
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2015
Denaturing HPLC analysis of DNA deletions and insertions.
Cremonesi L et al.
Human Mutation, 2003