Associated Papers
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.
Kumar M et al.
Movement Disorders Clinical Practice, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Kulkarni AV et al.
Gastro Hep Advances, 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
Clinical and genetic characterization of patients with late onset Wilson's disease.
Yang W et al.
Npj Genomic Medicine, 2024
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
ATP7B Gene Variant Profile İdentified by NGS in Wilson's Disease.
Gorukmez O et al.
Fetal and Pediatric Pathology, 2023
Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.
Chakraborty K et al.
Metallomics : Integrated Biometal Science, 2023
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.
Nagral A et al.
Indian Journal of Pediatrics, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.
Almes M et al.
Diagnostics (basel, Switzerland), 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
Estimating the clinical prevalence of Wilson's disease in the UK.
Wijayasiri P et al.
Jhep Reports : Innovation in Hepatology, 2021
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Roy S et al.
Scientific Reports, 2020
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 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
The genetics of Wilson disease.
Chang IJ et al.
Handbook of Clinical Neurology, 2017
Geographic distribution of ATP7B mutations in Wilson disease.
Gomes A et al.
Annals of Human Biology, 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
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
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Mukherjee S et al.
Parkinsonism & Related Disorders, 2014
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
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Lepori MB et al.
Molecular and Cellular Probes, 2012
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Usta J et al.
Jimd Reports, 2012
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