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
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review.
Banadaki HD et al.
Molecular Aspects of Medicine, 2025
A 15 bp non-canonical splice-site deletion in ABCA4 linked with retinitis pigmentosa and myopia: insights into splicing defects and phenotypic variability.
Vanita V et al.
Molecular Biology Reports, 2025
Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.
Dayma K et al.
International Journal of Molecular Sciences, 2025
Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches.
Gómez-Escribano AP et al.
Ebiomedicine, 2025
Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease.
Pas JAAH et al.
Investigative Ophthalmology & Visual Science, 2025
Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids.
Watson A et al.
Cell Death & Disease, 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
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Burnight ER et al.
Human Molecular Genetics, 2024
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 2024
Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease.
Suárez-Herrera N et al.
Nucleic Acid Therapeutics, 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
Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants.
De Angeli P et al.
Molecular Therapy. Nucleic Acids, 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
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Kaltak M et al.
Human Molecular Genetics, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Alternative RNA Splicing in the Retina: Insights and Perspectives.
Keuthan CJ et al.
Cold Spring Harbor Perspectives in Medicine, 2023
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.
Karjosukarso DW et al.
Stem Cell Research, 2023
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.
Karjosukarso DW et al.
Stem Cell Research, 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
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J et al.
Hgg Advances, 2023
Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C.
Kaltak M et al.
Molecular Therapy. Nucleic Acids, 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
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
Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches.
De Angeli P et al.
Molecular Therapy. Nucleic Acids, 2022
RPE65 c.353G>A, p.(Arg118Lys): A Novel Point Mutation Associated with Retinitis Pigmentosa and Macular Atrophy
Bjeloš M et al.
International Journal of Molecular Sciences, 2022
Panel-based next-generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies.
Kamenarova K et al.
Molecular Genetics & Genomic Medicine, 2022
Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.
Tian L et al.
Investigative Ophthalmology & Visual Science, 2022