Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Genetic architecture in Greenland is shaped by demography, structure and selection.
Stæger FF et al.
Nature, 2025
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.
Islam MM et al.
Jacc. Basic to Translational Science, 2025
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.
Hammer-Hansen S et al.
European Journal of Human Genetics : Ejhg, 2024
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Monogenic Causes in Familial Stroke Across Intracerebral Hemorrhage and Ischemic Stroke Subtypes Identified by Whole-Exome Sequencing.
Chang LH et al.
Cellular and Molecular Neurobiology, 2023
The landscape of tolerated genetic variation in humans and primates.
Gao H et al.
Biorxiv : the Preprint Server for Biology, 2023
An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention.
Jørsboe E et al.
Hgg Advances, 2022
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Björnsson E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
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