Associated Papers
Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids.
Piccolo D et al.
Investigative Ophthalmology & Visual Science, 2025
ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 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
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Piccolo D et al.
International Journal of Molecular Sciences, 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
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
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 2022
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 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
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM et al.
Genes, 2019
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.
Alabduljalil T et al.
American Journal of Ophthalmology, 2019
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study.
Wang L et al.
Genes, 2018
Localization and functional characterization of the p.Asn965Ser (N965S) ABCA4 variant in mice reveal pathogenic mechanisms underlying Stargardt macular degeneration.
Molday LL et al.
Human Molecular Genetics, 2018
Geographic distribution of rare variants associated with age-related macular degeneration.
Geerlings MJ et al.
Molecular Vision, 2018
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
Early-onset stargardt disease: phenotypic and genotypic characteristics.
Lambertus S et al.
Ophthalmology, 2015
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Zernant J et al.
Human Mutation, 2014
Outcome of ABCA4 microarray screening in routine clinical practice.
Ernest PJ et al.
Molecular Vision, 2009