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
41642025 (PubMed )
Supplement: iovs-67-2-19_s001.xlsx › Table_S1
Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort.
Yaylacioğlu Tuncay F et al.
Turkish Journal of Medical Sciences, 2025
Structural and functional characterization of the nucleotide-binding domains of ABCA4 and their role in Stargardt disease.
Scortecci JF et al.
The Journal of Biological Chemistry, 2024
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.
Chacon-Camacho OF et al.
Molecular Genetics and Genomics : Mgg, 2024
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_16
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
40225145 (PubMed )
Supplement: 6815504.f1.zip › S4_PS4_PM2.xlsx › PS4_AF_FET_PM2_rare
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.
Zenteno JC et al.
Molecular Genetics & Genomic Medicine, 2020
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