Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
Panel-Based Genetic Testing in a Consecutive Series of Individuals with Inherited Retinal Diseases in Australia: Identifying Predictors of a Diagnosis.
Britten-Jones AC et al.
Genes, 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
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Cevik S et al.
Advances in Experimental Medicine and Biology, 2025
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
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.
Daich Varela M et al.
Ophthalmology, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L et al.
Jama Ophthalmology, 2023
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates.
Pfau M et al.
American Journal of Ophthalmology, 2023
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Whelan L et al.
Scientific Reports, 2023
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Hussain HMJ et al.
Genes, 2023
Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.
Cevik S et al.
Molecular Vision, 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 Diagnosis for 64 Patients with Inherited Retinal Disease.
Lynn J et al.
Genes, 2022
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 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
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Stargardt disease and progress in therapeutic strategies.
Huang D et al.
Ophthalmic Genetics, 2022
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Lee W et al.
Jci Insight, 2022
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
Pfau M et al.
Jci Insight, 2022
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z et al.
Npj Genomic Medicine, 2021
Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.
Scortecci JF et al.
Nature Communications, 2021
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP et al.
Acta Ophthalmologica, 2021
Peripheral pigmented lesions in ABCA4-associated retinopathy.
Al-Ani HH et al.
Ophthalmic Genetics, 2021
Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV et al.
Human Mutation, 2021
Stargardt misdiagnosis: How ocular genetics helps.
Ibanez MB et al.
American Journal of Medical Genetics. Part A, 2021
Molecular structures of the eukaryotic retinal importer ABCA4.
Liu F et al.
Elife, 2021
The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.
Aísa-Marín I 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
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM et al.
Progress in Retinal and Eye Research, 2020
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M et al.
Molecular Therapy. Nucleic Acids, 2020