Associated Papers
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 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
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Burnight ER et al.
Human Molecular Genetics, 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
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
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
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Karali M et al.
Scientific Reports, 2022
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Tudini E et al.
American Journal of Human Genetics, 2022
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Glinton SL et al.
Translational Vision Science & Technology, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
Perifoveal Cone- and Rod-Mediated Temporal Contrast Sensitivities in Stargardt Disease/Fundus Flavimaculatus.
Fars J et al.
Investigative Ophthalmology & Visual Science, 2021
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA et al.
Clinical 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
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Mena MD et al.
Frontiers in 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
Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.
Garces FA et al.
International Journal of Molecular Sciences, 2020
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Prediction of Function in ABCA4-Related Retinopathy Using Ensemble Machine Learning.
Müller PL et al.
Journal of Clinical Medicine, 2020
Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.
Jauregui R et al.
Investigative Ophthalmology & Visual Science, 2020
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Tracewska AM et al.
Genes, 2019
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
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
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
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.
Thompson JA et al.
Advances in Experimental Medicine and Biology, 2019
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.
Lin Y et al.
International Journal of Molecular Medicine, 2018
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 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
Association of dark-adapted visual function with retinal structural changes in patients with Stargardt disease.
Salvatore S et al.
Retina (philadelphia, Pa.), 2014
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
Fujinami K et al.
American Journal of Ophthalmology, 2013
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
Duno M et al.
Ophthalmic Genetics, 2012
Clinical and genetic characteristics of late-onset Stargardt's disease.
Westeneng-van Haaften SC et al.
Ophthalmology, 2012
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Schindler EI et al.
Human Molecular Genetics, 2010
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.
Chen B et al.
Experimental Eye Research, 2010