Associated Papers
Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.
Cevik S et al.
Advances in Experimental Medicine and Biology, 2025
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
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration.
Wąsowska A et al.
Genes, 2023
Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.
Cevik S et al.
International Journal of Molecular Sciences, 2023
Genetic Aspects of Age-Related Macular Degeneration and Their Therapeutic Potential.
Stradiotto E et al.
International Journal of Molecular Sciences, 2022
EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.
Gautheron J et al.
Elife, 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
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 enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.
Nassisi M et al.
International Journal of Molecular Sciences, 2018
Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Garg A et al.
Ophthalmic Genetics, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.
Cornelis SS et al.
Human Mutation, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
Priest JR et al.
Plos Genetics, 2016
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
Zhang R et al.
Gene, 2015
Highly penetrant alleles in age-related macular degeneration.
den Hollander AI et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Alapati A et al.
Investigative Ophthalmology & Visual Science, 2014
ABCA4 gene screening by next-generation sequencing in a British cohort.
Fujinami K et al.
Investigative Ophthalmology & Visual Science, 2013
Genetics of age-related macular degeneration: current concepts, future directions.
Deangelis MM et al.
Seminars in Ophthalmology, 2011
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Genetic factors associated with age-related macular degeneration.
Leveziel N et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2011
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR et al.
Ophthalmology, 2010
[Genetic factors associated with age-related macular degeneration].
Leveziel N et al.
Medecine Sciences : M/s, 2010
ABC transporters in ophthalmic disease.
Westerfeld C
Methods in Molecular Biology (clifton, N.j.), 2010
Outcome of ABCA4 microarray screening in routine clinical practice.
Ernest PJ et al.
Molecular Vision, 2009
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
Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits.
Swaroop A et al.
Human Molecular Genetics, 2007
ABC A-subfamily transporters: structure, function and disease.
Kaminski WE et al.
Biochimica Et Biophysica Acta, 2006
Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4.
Zhang Q et al.
Human Genetics, 2005
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Wiszniewski W et al.
Human Molecular Genetics, 2005
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
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
Klevering BJ et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2005
Evolution of ABCA4 proteins in vertebrates.
Yatsenko AN et al.
Journal of Molecular Evolution, 2005
Evaluation of the ABCR and glutathione peroxidase-3 genes in familial and sporadic cases of exudative age-related macular degeneration.
Shastry BS
International Journal of Molecular Medicine, 2004
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Stenirri S et al.
Clinical Chemistry, 2004
Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
Klevering BJ et al.
Ophthalmology, 2004
Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter.
Biswas-Fiss EE
Biochemistry, 2003
Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy.
Schmidt S et al.
Investigative Ophthalmology & Visual Science, 2003
Age-related macular degeneration: a new viewpoint.
Hamdi HK et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2003
Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene.
Klevering BJ et al.
Investigative Ophthalmology & Visual Science, 2002
Differential occurrence of mutations causative of eye diseases in the Chinese population.
Pang CP et al.
Human Mutation, 2002
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.
Shroyer NF et al.
Human Molecular Genetics, 2001
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
Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration.
Sauer CG et al.
The British Journal of Ophthalmology, 2001