Associated Papers
Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.
Cobos E et al.
Investigative Ophthalmology & Visual Science, 2026
Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.
Zee A et al.
Translational Vision Science & Technology, 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
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
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
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 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
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 2022
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Schwartz JR et al.
Nature Communications, 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
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.
Cremers FPM et al.
Progress in Retinal and Eye Research, 2020
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Jauregui R et al.
Investigative Ophthalmology & Visual Science, 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
Early impairment of the full-field photopic negative response in patients with Stargardt disease and pathogenic variants of the ABCA4 gene.
Abed E et al.
Clinical & Experimental Ophthalmology, 2018
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Zernant J et al.
Journal of Medical Genetics, 2017
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.
Abed E et al.
Journal of Ophthalmology, 2017
Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.
Roberts L et al.
Investigative Ophthalmology & Visual Science, 2016
Flecks in Recessive Stargardt Disease: Short-Wavelength Autofluorescence, Near-Infrared Autofluorescence, and Optical Coherence Tomography.
Sparrow JR et al.
Investigative Ophthalmology & Visual Science, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
Duncker T et al.
Ophthalmology, 2015
Analysis of the ABCA4 genomic locus in Stargardt disease.
Zernant J et al.
Human Molecular Genetics, 2014
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Zernant J et al.
Human Mutation, 2014
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
ABCA4 gene screening by next-generation sequencing in a British cohort.
Fujinami K et al.
Investigative Ophthalmology & Visual Science, 2013
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
Fujinami K et al.
American Journal of Ophthalmology, 2013
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
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.
Michaelides M et al.
The British Journal of Ophthalmology, 2007
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Jaakson K et al.
Human Mutation, 2003
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
Yatsenko AN et al.
Human Genetics, 2001
Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
Simonelli F et al.
Ophthalmic Research, 0