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
Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
Lieviant JA et al.
European Journal of Human Genetics : Ejhg, 2025
Pathologic Genetic Mutations May Correlate with Poor Visual Outcome in Patients with Hydroxychloroquine Retinopathy.
Chiu HI et al.
Ophthalmology and Therapy, 2025
Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease.
Liu X et al.
International Journal of Molecular Sciences, 2025
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
Zee A et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Exome sequencing and genome-wide association analyses unveils the genetic predisposition in hydroxychloroquine retinopathy.
Chiu HI et al.
Eye (london, England), 2024
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Piccolo D et al.
International Journal of Molecular Sciences, 2024
Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.
Tan TE et al.
Diagnostics (basel, Switzerland), 2023
Natural History of Visual Dysfunction in ABCA4 Retinopathy and Its Genetic Correlates.
Pfau M et al.
American Journal of Ophthalmology, 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
Multi-omics analysis identifies osteosarcoma subtypes with distinct prognosis indicating stratified treatment.
Jiang Y et al.
Nature Communications, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.
Wang Y et al.
Investigative Ophthalmology & Visual Science, 2022
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
Pfau M et al.
Jci Insight, 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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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
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
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 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
The CFTR Corrector, VX-809 (Lumacaftor), Rescues ABCA4 Trafficking Mutants: a Potential Treatment for Stargardt Disease.
Liu Q et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2019
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.
Fakin A et al.
Investigative Ophthalmology & Visual Science, 2016
Rescuing Trafficking Mutants of the ATP-binding Cassette Protein, ABCA4, with Small Molecule Correctors as a Treatment for Stargardt Eye Disease.
Sabirzhanova I et al.
The Journal of Biological Chemistry, 2015
Objective Analysis of Hyperreflective Outer Retinal Bands Imaged by Optical Coherence Tomography in Patients With Stargardt Disease.
Park JC et al.
Investigative Ophthalmology & Visual Science, 2015
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
Duncker T et al.
Ophthalmology, 2015
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Fujinami K et al.
Ophthalmology, 2015
Psychophysical measurement of rod and cone thresholds in stargardt disease with full-field stimuli.
Collison FT et al.
Retina (philadelphia, Pa.), 2014
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2014
Quantitative fundus autofluorescence in recessive Stargardt disease.
Burke TR et al.
Investigative Ophthalmology & Visual Science, 2014
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Kelly L et al.
Protein Science : a Publication of the Protein Society, 2010
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Lewis RA et al.
American Journal of Human Genetics, 1999
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
Allikmets R et al.
Science (new York, N.y.), 1997