Associated Papers
Multiple Genetic Analysis Unravels Pseudoexon in ATP7B in a Patient with Clinically Diagnosed Wilson Disease.
Tezuka T et al.
Movement Disorders Clinical Practice, 2025
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
A case of Wilson's disease combined with intracranial lipoma and dysplasia of the corpus callosum with review of the literature.
Zhang L et al.
Bmc Neurology, 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
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
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
Mutation spectrum of ATP7B gene in pediatric patients with Wilson disease in Vietnam.
Huong NTM et al.
Molecular Genetics and Metabolism Reports, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 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
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.
Wang J et al.
Medicine, 2021
Multimodal magnetic resonance imaging analysis in the characteristics of Wilson's disease: A case report and literature review.
Wang Y et al.
Open Life Sciences, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic 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
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
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
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Cheng N et al.
Clinical Genetics, 2017
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
[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
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Squitti R et al.
Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 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
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu YH et al.
Clinical Genetics, 2003