Associated Papers
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
Zee A et al.
Translational Vision Science & Technology, 2025
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Stargardt's Disease: Molecular Pathogenesis and Current Therapeutic Landscape.
Dayma K et al.
International Journal of Molecular Sciences, 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
ABCA4 c.5461-6T>C Causes Stargardt Disease Through Exon Skipping.
Quinodoz M et al.
Advances in Experimental Medicine and Biology, 2025
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
Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy.
Corradi Z et al.
International Journal of Molecular Sciences, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.
Weisschuh N et al.
Journal of Medical Genetics, 2024
Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort.
Tian L et al.
Gene, 2024
QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.
Kaltak M et al.
Scientific Reports, 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
Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.
Bianco L et al.
Jama Ophthalmology, 2023
ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.
Sajovic J et al.
Investigative Ophthalmology & Visual Science, 2023
Natural History of Stargardt Disease: The Longest Follow-Up Cohort Study.
Sajovic J et al.
Genes, 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
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Mc Clinton B et al.
Genes, 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
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
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
Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration.
Ng ESY et al.
Cells, 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
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Runhart EH et al.
Acta Ophthalmologica, 2022
Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.
Matynia A et al.
Translational Vision Science & Technology, 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
Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing.
Stephenson KAJ et al.
International Journal of Molecular Sciences, 2022
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Heath Jeffery RC et al.
Genes, 2021
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
Al-Khuzaei S et al.
Genes, 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
Analysis of Pathogenic Variants Correctable With CRISPR Base Editing Among Patients With Recessive Inherited Retinal Degeneration.
Fry LE et al.
Jama Ophthalmology, 2021