Associated Papers
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 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
40980162 (PubMed )
Supplement: mmc1.pdf
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
40332002 (PubMed )
Supplement: ijms-26-03509-s001.zip › Table_S1._Medically_ACMG_actionable_findings_and_carrier_status_identified_in_our_study.xlsx › Allele_frequencies
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
41659036 (PubMed )
Supplement: DataSheet1.pdf
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf
[Acute hemolysis crisis revealed a Wilson disease].
Feugray G et al.
Annales De Biologie Clinique, 2020
HSD17B13 truncated variant is associated with a mild hepatic phenotype in Wilson's Disease.
Ferenci P et al.
Jhep Reports : Innovation in Hepatology, 2019
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.
Ferenci P et al.
Hepatology (baltimore, Md.), 2019
Select a paper to view details