Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity.
Miller C et al.
Ophthalmic Genetics, 2025
Quantifying the Progression of Stargardt Disease in Double-Null ABCA4 Carriers Using Fundus Autofluorescence Imaging.
Mihalek I et al.
Translational Vision Science & Technology, 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
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
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.
Kadyshev VV et al.
International Journal of Molecular Sciences, 2023
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z et al.
Hgg Advances, 2023
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Whelan L et al.
Scientific Reports, 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
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
Pfau M et al.
Jci Insight, 2022
Genotype-Specific Lesion Growth Rates in Stargardt Disease.
Heath Jeffery RC et al.
Genes, 2021
Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.
Fars J et al.
Investigative Ophthalmology & Visual Science, 2021
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.
Heath Jeffery RC et al.
Ophthalmology Science, 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
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Runhart EH et al.
Jama Ophthalmology, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Khan M et al.
Molecular Therapy. Nucleic Acids, 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
Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.
Paavo M et al.
Journal of Neuroscience Research, 2019
Stargardt disease-associated mutation spectrum of a Russian Federation cohort.
Zolnikova IV et al.
European Journal of Medical Genetics, 2017
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Schulz HL et al.
Investigative Ophthalmology & Visual Science, 2017
Quantitative Fundus Autofluorescence and Optical Coherence Tomography in ABCA4 Carriers.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2015
Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography.
Sparrow JR et al.
Investigative Ophthalmology & Visual Science, 2015
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Fujinami K et al.
Ophthalmology, 2015
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.
Cideciyan AV et al.
Investigative Ophthalmology & Visual Science, 2012
Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.
Roberts LJ et al.
Molecular Vision, 2012
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
Gerth C et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2002
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
Rivera A et al.
American Journal of Human Genetics, 2000
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.
Nasonkin I et al.
Human Genetics, 1998