Associated Papers
ABCA4-associated retinopathy complicated by didanosine-associated retinal toxicity.
Nunziata A et al.
American Journal of Ophthalmology Case Reports, 2026
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.
Cobos E et al.
Investigative Ophthalmology & Visual Science, 2026
Stargardt Disease: Clinical Features and Genotypes in an Indian Cohort.
Rao MK et al.
Clinical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L et al.
Jama Ophthalmology, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
Sen P et al.
Indian Journal of 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
Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.
Xiao X et al.
Current Gene Therapy, 2022
Outer nuclear layer relevance in visual function correlated to quantitative enface OCT parameters in Stargardt disease.
Mucciolo DP et al.
European Journal of Ophthalmology, 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
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
Liu X et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.
Lin B et al.
Scientific Reports, 2016
En face OCT in Stargardt disease.
Sodi A et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2016
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
Riveiro-Alvarez R et al.
Ophthalmology, 2013
Functional Analysis of Retinal Flecks in Stargardt Disease.
Verdina T et al.
Journal of Clinical & Experimental Ophthalmology, 2012
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.
Chen B et al.
Experimental Eye Research, 2010
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010