Associated Papers
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Kaltak M et al.
Human Molecular Genetics, 2023
Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration.
Chou HD et al.
Diagnostics (basel, Switzerland), 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
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Lee W et al.
Human Molecular Genetics, 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
Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning.
Müller PL et al.
Journal of Clinical Medicine, 2020
The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.
Green JS et al.
European Journal of Human Genetics : Ejhg, 2020
Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy.
Müller PL et al.
Translational Vision Science & Technology, 2019
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
Birtel J et al.
Scientific Reports, 2018
Quantifying the Rate of Ellipsoid Zone Loss in Stargardt Disease.
Cai CX et al.
American Journal of Ophthalmology, 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
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
Correlating Photoreceptor Mosaic Structure to Clinical Findings in Stargardt Disease.
Razeen MM et al.
Translational Vision Science & Technology, 2016
Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy).
Grassmann F et al.
Bmc Ophthalmology, 2015
Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.
Battu R et al.
Biomed Research International, 2015
Genetic heterogeneity and clinical outcome in a Swedish family with retinal degeneration caused by mutations in CRB1 and ABCA4 genes.
Jonsson F et al.
Advances in Experimental Medicine and Biology, 2014
Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
Jonsson F et al.
European Journal of Human Genetics : Ejhg, 2013
Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration.
Yi J et al.
Molecular Medicine Reports, 2012
Analysis of the ABCA4 gene by next-generation sequencing.
Zernant J et al.
Investigative Ophthalmology & Visual Science, 2011
Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors.
Aguirre-Lamban J et al.
Investigative Ophthalmology & Visual Science, 2011
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC et al.
Ophthalmology, 2011
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
Riveiro-Alvarez R et al.
The British Journal of Ophthalmology, 2009
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
Mandal MN et al.
Investigative Ophthalmology & Visual Science, 2005
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.
September AV et al.
Investigative Ophthalmology & Visual Science, 2004
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
Maugeri A et al.
European Journal of Human Genetics : Ejhg, 2002
Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients.
Fumagalli A et al.
Human Genetics, 2001
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
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
Maugeri A et al.
American Journal of Human Genetics, 1999