Associated Papers
Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease.
Pas JAAH et al.
Investigative Ophthalmology & Visual Science, 2026
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
Zee A et al.
Translational Vision Science & Technology, 2025
Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.
Dayma K et al.
International Journal of Molecular Sciences, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 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
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in ABCA4.
Vázquez-Domínguez I et al.
Molecular Therapy. Nucleic Acids, 2024
Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.
Midgley N et al.
Molecular Genetics & Genomic Medicine, 2024
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
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
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
Suárez-Herrera N et al.
Cells, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
Suárez-Herrera N et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.
Li CHZ et al.
Ophthalmology, 2024
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study.
Sajovic J et al.
Genes, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 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
Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease
Tomkiewicz TZ et al.
Cells, 2022
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Hitti-Malin RJ et al.
Human Mutation, 2022
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
Lee W et al.
Jci Insight, 2022
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
Al-Khuzaei S et al.
Genes, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Benchmarking deep learning splice prediction tools using functional splice assays.
Riepe TV et al.
Human Mutation, 2021
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Lee W et al.
Human Molecular Genetics, 2021
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Mena MD et al.
Frontiers in Genetics, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021