Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 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
Familial Hypercholesterolemia Variant and Cardiovascular Risk in Individuals With Elevated Cholesterol.
Zhang Y et al.
Jama Cardiology, 2024
Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.
Gratton J et al.
Bmj Public Health, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Harmonizing variant classification for return of results in the All of Us Research Program.
Harrison SM et al.
Human Mutation, 2022
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Genetic basis of hypercholesterolemia in adults.
Saadatagah S et al.
Npj Genomic Medicine, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical 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
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB et al.
Atherosclerosis, 2011
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.
Romano M et al.
Atherosclerosis, 2010
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
García-García AB et al.
Human Mutation, 2001