Associated Papers
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Esteve-Garcia A et al.
Eye (london, England), 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 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
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
Genetic Characterization of 191 Probands with Inherited Retinal Dystrophy by Targeted NGS Analysis.
Mihalich A et al.
Genes, 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
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients.
Whelan L et al.
Scientific Reports, 2023
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Challenges and Opportunities in the Genetic Analysis of Inherited Retinal Dystrophies in Africa, a Literature Review.
Onyango O et al.
Journal of Personalized Medicine, 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
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
Choi H et al.
Ophthalmic Genetics, 2022
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.
Falsini B et al.
Scientific Reports, 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
Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
Bouzidi A et al.
Molecular Vision, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Updating the Genetic Landscape of Inherited Retinal Dystrophies.
García Bohórquez B et al.
Frontiers in Cell and Developmental Biology, 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 Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Stenson PD et al.
Human Genetics, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 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
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age-related macular degeneration.
Kersten E et al.
Clinical Genetics, 2018
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
González-Del Pozo M et al.
Scientific Reports, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Molecular-genetic profiling and high-throughput in vitro drug screening in NUT midline carcinoma-an aggressive and fatal disease.
Stirnweiss A et al.
Oncotarget, 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
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.
Bravo-Gil N et al.
Scientific Reports, 2017
Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.
Sanderson SC et al.
European Journal of Human Genetics : Ejhg, 2017
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
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
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
Martin J et al.
Fertility and Sterility, 2015
Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.
Matsui R et al.
Investigative Ophthalmology & Visual Science, 2015
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
van Huet RA et al.
Molecular Vision, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
Fujinami K et al.
American Journal of Ophthalmology, 2013
A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.
Fujinami K et al.
American Journal of Ophthalmology, 2013
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
Novel mutations in of the ABCR gene in Italian patients with Stargardt disease.
Passerini I et al.
Eye (london, England), 2010
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
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
Ducroq D et al.
American Journal of Human Genetics, 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