Associated Papers
Improving personalised genetic counselling for ABCA4 -associated retinopathy: Updated recurrence risk estimates.
Cornelis SS et al.
Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2025
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Cevik S 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
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 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
Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.
Gupta PR et al.
Molecular Vision, 2022
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
Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.
Garces FA et al.
International Journal of Molecular Sciences, 2020
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
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
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
Geographic distribution of rare variants associated with age-related macular degeneration.
Geerlings MJ et al.
Molecular Vision, 2018
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
Lee K et al.
American Journal of Ophthalmology, 2015
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Zernant J et al.
Human Mutation, 2014
Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease.
Utz VM et al.
American Journal of Ophthalmology, 2013
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.
Cideciyan AV et al.
Human Molecular Genetics, 2004