Associated Papers
Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.
Junna N et al.
Atherosclerosis, 2023
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
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
Multiparametric platform for profiling lipid trafficking in human leukocytes.
Pfisterer SG et al.
Cell Reports Methods, 2022
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
Genetic testing for familial hypercholesterolemia among survivors of acute coronary syndrome.
Benedek P et al.
Journal of Internal Medicine, 2018
Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
Grenkowitz T et al.
Atherosclerosis, 2016
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Thormaehlen AS et al.
Plos Genetics, 2015
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants.
Graça R et al.
Journal of Clinical Lipidology, 0
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