Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
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
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Clinical and Molecular Spectrum of Wilson Disease in the Arab World: A Systematic Review.
Benzine H et al.
Biochemical Genetics, 2025
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease.
Al-Obaidi RG et al.
Saudi Medical Journal, 2025
Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.
Kulkarni AV et al.
Gastro Hep Advances, 2025
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
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Pitfalls in diagnosing Wilson's Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene.
Antos A et al.
Neurologia I Neurochirurgia Polska, 2020
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.
Daneshjoo O et al.
Journal of Medical Case Reports, 2018
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
Braiterman LT et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Wilson disease, genotype and infertility: is there a correlation?
Frikha R et al.
Endocrine, 2013
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Zali N et al.
Hepatitis Monthly, 2011
Clinical presentation and mutations in Danish patients with Wilson disease.
Møller LB et al.
European Journal of Human Genetics : Ejhg, 2011
Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.
Abdel Ghaffar TY et al.
Bmc Pediatrics, 2011
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
Abdelghaffar TY et al.
Journal of Human Genetics, 2008
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
de Bie P et al.
Gastroenterology, 2007
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population.
Loudianos G et al.
Human Mutation, 1998