Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
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
Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.
Xu X et al.
Bmc Medical Genomics, 2024
Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease.
Sipilä JOT et al.
Journal of the Neurological Sciences, 2023
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
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Wallace DF et al.
Human Genetics, 2020
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
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
Jang JH et al.
Journal of Human Genetics, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Potential of the international scoring system for the diagnosis of Wilson disease to differentiate Japanese patients who need anti-copper treatment.
Tatsumi Y et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2011
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Lee BH et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2011
Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.
Sazinsky MH et al.
The Journal of Biological Chemistry, 2006
Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.
Ohya K et al.
European Journal of Pediatrics, 2002