Associated Papers
Under the dual hit: genetic and phenotypic analysis of a Han family with severe adolescent cirrhosis from the convergence of Wilson's disease and favism.
Xie YQ et al.
Gene, 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
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
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
Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology.
Chen SC et al.
Journal of Assisted Reproduction and Genetics, 2023
Genetic studies discover novel coding and non-coding mutations in patients with Wilson's disease in China.
Huang C et al.
Journal of Clinical Laboratory Analysis, 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
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Early Diagnosis of Wilson's Disease in Children in Southern China by Using Common Parameters.
Zhou J et al.
Frontiers in Genetics, 2022
Clinical and Genetic Analysis in Neurological Wilson's Disease Patients With Neurological Worsening Following Chelator Therapy.
Hou H et al.
Frontiers in Genetics, 2022
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Xiao Z et al.
Molecular Genetics & Genomic Medicine, 2021
Actionable secondary findings in 1116 Hong Kong Chinese based on exome sequencing data.
Yu MHC et al.
Journal of Human Genetics, 2021
Association of rare variants in neurodegenerative genes with familial Alzheimer's disease.
Zhang W et al.
Annals of Clinical and Translational Neurology, 2020
Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes.
Li J et al.
Diabetes Care, 2020
Challenges in molecular diagnosis of Wilson disease: viewpoint from the clinical laboratory.
Poon KS et al.
Journal of Clinical Pathology, 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
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.
Xiao H et al.
Digestion, 2019
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Recurrent stroke-like episodes of Wilson disease with a novel Val176fs mutation.
Pan L et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Tuan Pham LA et al.
Journal of Genetics, 2017
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
Qian J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Poon KS et al.
Clinical Biochemistry, 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 characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Wei Z et al.
Neuroreport, 2014
Zinc monotherapy and a low-copper diet are beneficial in patients with Wilson disease after liver transplantation.
Ni W et al.
Cns Neuroscience & Therapeutics, 2013
Mutation analysis of 73 southern Chinese Wilson's disease patients: identification of 10 novel mutations and its clinical correlation.
Wang LH et al.
Journal of Human Genetics, 2011
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Wan L et al.
Hepatology (baltimore, Md.), 2010
Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.
Mak CM et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Mutational analysis of 65 Wilson disease patients in Hong Kong Chinese: identification of 17 novel mutations and its genetic heterogeneity.
Mak CM et al.
Journal of Human Genetics, 2008
Diagnosis of Wilson's disease: a comprehensive review.
Mak CM et al.
Critical Reviews in Clinical Laboratory Sciences, 2008
Mutation analysis of Wilson disease in Taiwan and description of six new mutations.
Tsai CH et al.
Human Mutation, 1998
Six novel ATP7B mutations in Thai patients with Wilson disease.
Panichareon B et al.
European Journal of Medical Genetics, 0