Associated Papers
Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.
Khabou B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
An integrative neurogenomics workflow for precision medicine in neurodegenerative disorders.
Perezcano C et al.
Frontiers in Dementia, 2026
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Pathogenicity analysis of ATP7B in pediatric patients with Wilson's disease and functional verification of alternative splice variants.
Wang Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.
Alonso-Castellano P et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2025
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease.
Zhou D et al.
Cellular and Molecular Gastroenterology and Hepatology, 2025
Silent but significant: Functional elucidation of a synonymous ATP7B mutation in Wilson's disease pedigrees.
Zhang Q et al.
Frontiers in Genetics, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.
Garbuz M et al.
Biomedicines, 2024
Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain.
Isa HM et al.
Cureus, 2024
Navigating the CRISPR/Cas Landscape for Enhanced Diagnosis and Treatment of Wilson's Disease.
Choi W et al.
Cells, 2024
Wilson disease: the diagnostic challenge and treatment outcomes in a series of 262 cases.
Deguti MM et al.
Arquivos De Neuro-psiquiatria, 2024
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.
Ovchinnikova EV et al.
International Journal of Molecular Sciences, 2024
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
Systematic Analysis and Insights Into the Mutation Spectrum and Ethnic Differences in ATP7B Mutations Associated With Wilson Disease.
Lao TD et al.
Biomarker Insights, 2024
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease.
Mariño Z et al.
Journal of Inherited Metabolic Disease, 2023
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2022
Secondary findings in 622 Turkish clinical exome sequencing data.
Arslan Ateş E et al.
Journal of Human Genetics, 2021
Wilson's Disease: An Update on the Diagnostic Workup and Management.
Kasztelan-Szczerbinska B et al.
Journal of Clinical Medicine, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Collins CJ et al.
Gastroenterology, 2021
Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations.
Höflich C et al.
Scientific Reports, 2021
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
García-Villarreal L et al.
Journal of Gastroenterology, 2021
The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
Poskanzer SA et al.
Molecular Genetics & Genomic Medicine, 2020
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
Penon-Portmann M et al.
Jimd Reports, 2020
The Prevalence of Wilson's Disease: An Update.
Sandahl TD et al.
Hepatology (baltimore, Md.), 2020
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
Merico D et al.
Npj Genomic Medicine, 2020
Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.
Zarina A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
The dilemma to diagnose Wilson disease by genetic testing alone.
Stättermayer AF et al.
European Journal of Clinical Investigation, 2019
The global prevalence of Wilson disease from next-generation sequencing data.
Gao J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genetics and epigenetic factors of Wilson disease.
Medici V et al.
Annals of Translational Medicine, 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
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Collet C et al.
Bmc Medical Genetics, 2018
Wilson's Disease in Children: A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition.
Socha P et al.
Journal of Pediatric Gastroenterology and Nutrition, 2018
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Zhu HW et al.
World Journal of Pediatrics : Wjp, 2017
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.
Zarina A et al.
Molecular Genetics & Genomic Medicine, 2017