Associated Papers
ABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases.
Bao Y et al.
Experimental Eye Research, 2025
Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.
Zhang L et al.
Investigative Ophthalmology & Visual Science, 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
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
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 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
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates.
Pfau M et al.
American Journal of Ophthalmology, 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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 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
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 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
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Del Pozo-Valero M et al.
Investigative Ophthalmology & Visual Science, 2022
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
Pfau M et al.
Jci Insight, 2022
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP et al.
Acta Ophthalmologica, 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
A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.
Martín-Sánchez M et al.
International Journal of Molecular Sciences, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M et al.
Molecular Therapy. Nucleic Acids, 2020
Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.
Liu X et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning.
Müller PL et al.
Journal of Clinical Medicine, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
Prospective Cohort Study of Childhood-Onset Stargardt Disease: Fundus Autofluorescence Imaging, Progression, Comparison with Adult-Onset Disease, and Disease Symmetry.
Georgiou M et al.
American Journal of Ophthalmology, 2020
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Bauwens M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K et al.
The British Journal of Ophthalmology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M et al.
International Journal of Molecular Sciences, 2018
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Smaragda K et al.
Journal of Ophthalmology, 2018
STARGARDT DISEASE: Beyond Flecks and Atrophy.
Light JG et al.
Retina (philadelphia, Pa.), 2017
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
Huang L et al.
Scientific Reports, 2017
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Fujinami K et al.
Ophthalmology, 2015
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Alapati A et al.
Investigative Ophthalmology & Visual Science, 2014