Associated Papers
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
39535057 (PubMed )
Supplement: zwae331_supplementary_data.docx
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
37675602 (PubMed )
Supplement: hcg-16-462-s001.pdf
Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Gandhi GD et al.
Journal of Translational Medicine, 2022
36329474 (PubMed )
Supplement: 12967_2022_3697_MOESM1_ESM.docx
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
Safarova MS et al.
European Journal of Human Genetics : Ejhg, 2017
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