Associated Papers
Combined clinical and genomic analysis uncovers neonatal-onset Wilson disease in two siblings with idiopathic cholestasis.
Khabou B et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.
Benzine H et al.
Biochemical Genetics, 2025
Spectrum of Pathogenic Variants of the ATP7B Gene and Genotype-Phenotype Correlation in Eastern Eurasian Patient Cohorts with Wilson's Disease.
Garbuz M et al.
Biomedicines, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Epidemiology of Wilson's Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions.
Ovchinnikova EV et al.
International Journal of Molecular Sciences, 2024
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
Vatsyayan A et al.
Plos One, 2024
Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson's Disease Using a Panel of 14 Common Mutations for the European Population.
Garbuz MM et al.
Genes, 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Singh N et al.
Plos One, 2019
Wilson's disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance.
Barada K et al.
World Journal of Gastroenterology, 2017
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
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Wilson disease: pathogenesis and clinical considerations in diagnosis and treatment.
Rosencrantz R et al.
Seminars in Liver Disease, 2011
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
Abdel Ghaffar TY et al.
Bmc Pediatrics, 2011
Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children.
Müller T et al.
Journal of Hepatology, 2007
A clinical and genetic study of 56 Saudi Wilson disease patients: identification of Saudi-specific mutations.
Al Jumah M et al.
European Journal of Neurology, 2004
A study of Wilson disease mutations in Britain.
Curtis D et al.
Human Mutation, 1999