Associated Papers
Protein quantitative trait locus analysis in African American and non-Hispanic White individuals.
Cai Y et al.
Genome Biology, 2025
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
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin D et al.
Nature Genetics, 2018
30275531 (PubMed )
Supplement: NIHMS1502930-supplement-8.xlsx › Sheet1
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R et al.
Atherosclerosis, 2017
Molecular testing for familial hypercholesterolaemia-associated mutations in a UK-based cohort: development of an NGS-based method and comparison with multiplex polymerase chain reaction and oligonucleotide arrays.
Reiman A et al.
Annals of Clinical Biochemistry, 2016
The UK10K project identifies rare variants in health and disease.
Walter K et al.
Nature, 2015
26367797 (PubMed )
Supplement: 41586_2015_BFnature14962_MOESM15_ESM.xlsx › 15
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
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1
Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
Vaca G et al.
Atherosclerosis, 2011
Homozygous familial hypercholesterolemia: the c.1055G>A mutation in the LDLR gene and clinical heterogeneity.
Magaña Torres MT et al.
Journal of Clinical Lipidology, 0
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