Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
39731075 (PubMed )
Supplement: 12944_2024_2406_MOESM1_ESM.xlsx › Sheet1
Pacybara: accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Bioinformatics (oxford, England), 2024
38569896 (PubMed )
Supplement: btae182_supplementary_data.pdf
Pacybara: Accurate long-read sequencing for barcoded mutagenized allelic libraries.
Weile J et al.
Biorxiv : the Preprint Server for Biology, 2023
36865234 (PubMed )
Supplement: media-1.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
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.
Fairoozy RH et al.
Scientific Reports, 2017
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
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M et al.
Human Mutation, 2010
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
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