Associated Papers
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
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCT.
Heath Jeffery RC et al.
Ophthalmology. Retina, 2024
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Whelan L et al.
Scientific Reports, 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
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
Stephenson KAJ et al.
International Journal of Molecular Sciences, 2022
Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.
Scortecci JF et al.
Nature Communications, 2021
Peripheral pigmented lesions in ABCA4-associated retinopathy.
Al-Ani HH et al.
Ophthalmic Genetics, 2021
Molecular structures of the eukaryotic retinal importer ABCA4.
Liu F et al.
Elife, 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
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
Foveal Sparing in Central Retinal Dystrophies.
Bax NM et al.
Investigative Ophthalmology & Visual Science, 2019
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Sangermano R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.
Khan KN et al.
Ophthalmology, 2018
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease.
Cai CX et al.
American Journal of Ophthalmology, 2018
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.
Schroeder M et al.
Molecular Vision, 2018
STARGARDT DISEASE: Beyond Flecks and Atrophy.
Light JG et al.
Retina (philadelphia, Pa.), 2017
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Fujinami K et al.
Ophthalmology, 2015
Foveal sparing in Stargardt disease.
van Huet RA et al.
Investigative Ophthalmology & Visual Science, 2014
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
Fujinami K et al.
American Journal of Ophthalmology, 2013
Clinical and genetic characteristics of late-onset Stargardt's disease.
Westeneng-van Haaften SC et al.
Ophthalmology, 2012
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Schindler EI et al.
Human Molecular Genetics, 2010
Multimodal Phenomap of Stargardt Disease Integrating Structural, Psychophysical, and Electrophysiologic Measures of Retinal Degeneration.
Abousy M et al.
Ophthalmology Science, 0