Associated Papers
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Investigating common mutations in ATP7B gene and the prevalence of Wilson's disease in the Thai population using population-based genome-wide datasets.
Own-Eium P et al.
Journal of Human Genetics, 2025
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease.
Al-Obaidi RGY et al.
Sultan Qaboos University Medical Journal, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
Gorukmez O et al.
Fetal and Pediatric Pathology, 2023
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic 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
Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes.
Li J et al.
Diabetes Care, 2020
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
Li X et al.
American Journal of Medical Genetics. Part A, 2019
Genetics and epigenetic factors of Wilson disease.
Medici V et al.
Annals of Translational Medicine, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Kumari N et al.
Human Mutation, 2018
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.
Wang C et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
Update on the clinical management of Wilson's disease.
Hedera P
The Application of Clinical Genetics, 2017
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Ljubić H et al.
Genetic Testing and Molecular Biomarkers, 2016
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Dong Y et al.
Theranostics, 2016
Mutational analysis of ATP7B in Chinese Wilson disease patients.
Hua R et al.
American Journal of Translational Research, 2016
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Guggilla SR et al.
Gene, 2015
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
Usta J et al.
Plos One, 2014
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
Aggarwal A et al.
Annals of Human Genetics, 2013
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: identification of five novel mutations.
Simsek Papur O et al.
European Journal of Medical Genetics, 2013
Clinical presentation and mutations in Danish patients with Wilson disease.
Møller LB et al.
European Journal of Human Genetics : Ejhg, 2011
Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.
Rosencrantz R et al.
Seminars in Liver Disease, 2011
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Gupta A et al.
Cellular and Molecular Neurobiology, 2007
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Ferenci P
Human Genetics, 2006
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Kumar S et al.
Clinical Genetics, 2005
Pathophysiology and clinical features of Wilson disease.
Ferenci P
Metabolic Brain Disease, 2004
Review article: diagnosis and current therapy of Wilson's disease.
Ferenci P
Alimentary Pharmacology & Therapeutics, 2004
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
Loudianos G et al.
Genetic Testing, 2003
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Okada T et al.
Human Mutation, 2000