Associated Papers
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Use of Estonian Biobank data and participant recall to improve Wilson's disease management.
Nurm M et al.
European Journal of Human Genetics : Ejhg, 2025
Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.
Djebrani-Oussedik N et al.
Jhep Reports : Innovation in Hepatology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Calvo JS et al.
Human Mutation, 2025
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
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
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.
Pérez-Santamarina E et al.
Scientific Reports, 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
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations.
Sriretnakumar V et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Collet C et al.
Bmc Medical Genetics, 2018
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Davies LP et al.
Genetic Testing, 2008
Wilson's disease in an adult asymptomatic patient: a potential role for modifying factors of copper metabolism.
Loudianos G et al.
Annals of Gastroenterology, 0