Associated Papers
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
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
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
Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
Zhang T et al.
Bmc Pediatrics, 2024
Copper Deficiency Myeloneuropathy in a Patient With Wilson's Disease.
Wang Y et al.
Journal of Movement Disorders, 2024
Clinical and genetic characterization of pediatric patients with Wilson's disease from Yunnan province where ethnic minorities gather.
Wang Y et al.
Frontiers in Genetics, 2023
Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane.
Xu H et al.
Frontiers in Neurology, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Laboratory and clinical evaluation of a microarray for the detection of ATP7B mutations in Wilson disease in China.
Jia S et al.
Journal of Clinical Laboratory Analysis, 2022
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
Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Zhang S et al.
Translational Neurodegeneration, 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 Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.
Yang Y et al.
The Application of Clinical Genetics, 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
Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.
Qiao L et al.
Molecular Genetics & Genomic Medicine, 2021
Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.
Wang J et al.
Medicine, 2021
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
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Li X et al.
Human Mutation, 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
Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.
Xiao H et al.
Digestion, 2019
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
[A young boy with elevated aminotransferases in physical examination--Two novel missense mutations associated with Wilson's disease were found].
Zhu Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
Gu S et al.
Plos One, 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
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