Associated Papers
Functional characterization of 16 variants found in the LDL receptor gene.
Konečná K et al.
Journal of Lipid Research, 2025
Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.
Aliosaitiene U et al.
Journal of Cardiovascular Development and Disease, 2025
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
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
38879446 (PubMed )
Supplement: JAH3-13-e034434-s001.pdf
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
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Cuchel M et al.
Journal of the American Heart Association, 2023
37119068 (PubMed )
Supplement: JAH3-12-e029175-s001.pdf
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.
Vasilyev V et al.
Frontiers in Genetics, 2020
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.
Smyth N et al.
Current Opinion in Lipidology, 2018
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R et al.
Atherosclerosis, 2017
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
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