Associated Papers
Germline mutational landscape in a large cohort of Indian breast cancer.
Peter J et al.
Bmc Cancer, 2025
Evaluation of the Relationship Between Neurologic Manifestations and Genetic Mutations in Wilson's Disease with Next-Generation Sequencing.
Akbulut S et al.
Diagnostics (basel, Switzerland), 2025
Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.
Klippel C et al.
International Journal of Neonatal Screening, 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
Wilson's disease in Sardinian population: The experience of a pediatric referral center.
Loudianos G et al.
Journal of Pediatric Gastroenterology and Nutrition, 2024
The mutation spectrum and ethnic distribution of Wilson disease, a review.
Beyzaei Z et al.
Molecular Genetics and Metabolism Reports, 2024
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
Prevalence of Wilson disease based on genome databases in Japan.
Yamaguchi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2021
Relationship between genetic mutations and clinical phenotypes in patients with Wilson disease.
Zhu Q et al.
Medicine, 2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
Ferenci P et al.
Hepatology (baltimore, Md.), 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
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
Epidemiology and introduction to the clinical presentation of Wilson disease.
Lo C et al.
Handbook of Clinical Neurology, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 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
Wilson's disease.
Loudianos G et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 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
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Weiss KH et al.
Journal of Inherited Metabolic Disease, 2010
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
Merle U et al.
Bmc Gastroenterology, 2010
High incidence and allelic homogeneity of Wilson disease in 2 isolated populations: a prerequisite for efficient disease prevention programs.
Zappu A et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin.
Lepori MB et al.
Genetic Testing, 2007
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G et al.
Human Mutation, 1998