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
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Ambispective study on the phenotypic progression of patients with Stargardt disease associated with ABCA4 gene mutations.
Martel Ramirez VA et al.
Archivos De La Sociedad Espanola De Oftalmologia, 2025
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
Fenner BJ et al.
Ophthalmology, 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
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
Kaltak M et al.
Journal of Translational Medicine, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 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
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
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.
Miere A et al.
Journal of Clinical Medicine, 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
Biofeedback Rehabilitation and Visual Cortex Response in Stargardt's Disease: A Randomized Controlled Trial.
Melillo P et al.
Translational Vision Science & Technology, 2020
Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Toulis V et al.
Genes, 2020
Visual Cortex Activation in Patients With Stargardt Disease.
Melillo P et al.
Investigative Ophthalmology & Visual Science, 2018
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Dockery A et al.
Genes, 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
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2015
Macular function and morphologic features in juvenile stargardt disease: longitudinal study.
Testa F et al.
Ophthalmology, 2014
Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.
Huang WC et al.
Investigative Ophthalmology & Visual Science, 2014
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R et al.
Ophthalmology, 2013
Analysis of the ABCA4 gene by next-generation sequencing.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2011
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Schindler EI et al.
Human Molecular Genetics, 2010
ABCA4 disease progression and a proposed strategy for gene therapy.
Cideciyan AV et al.
Human Molecular Genetics, 2009
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Kitiratschky VB et al.
European Journal of Human Genetics : Ejhg, 2008
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004