Associated Papers
Trans-ancestral rare variant association study with machine learning-based phenotyping for metabolic dysfunction-associated steatotic liver disease.
Chen R et al.
Genome Biology, 2025
Exome sequence analysis identifies rare coding variants associated with a machine learning-based marker for coronary artery disease.
Petrazzini BO et al.
Nature Genetics, 2024
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Drug-target Mendelian randomization analysis supports lowering plasma ANGPTL3, ANGPTL4, and APOC3 levels as strategies for reducing cardiovascular disease risk.
Landfors F et al.
European Heart Journal Open, 2024
Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M et al.
Genes, 2024
Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.
Moreno-Gázquez I et al.
Bmc Research Notes, 2023
Complex effects of sequence variants on lipid levels and coronary artery disease.
Snaebjarnarson AS et al.
Cell, 2023
Genetics and regulation of HDL metabolism.
Kardassis D et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022
Ethnic differences in ApoC-III concentration and the risk of cardiovascular disease: No evidence for the cardioprotective role of rare/loss of function APOC3 variants in non-Europeans.
Rout M et al.
American Heart Journal Plus : Cardiology Research and Practice, 2022
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran M et al.
Molecular Genetics & Genomic Medicine, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.
Nielsen JB et al.
Nature Communications, 2020
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.
Dron JS et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2020
Triglycerides and remnant cholesterol associated with risk of aortic valve stenosis: Mendelian randomization in the Copenhagen General Population Study.
Kaltoft M et al.
European Heart Journal, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
APOC3 rs2070667 Associates with Serum Triglyceride Profile and Hepatic Inflammation in Nonalcoholic Fatty Liver Disease.
Xu QY et al.
Biomed Research International, 2020
Emerging evidences for the opposite role of apolipoprotein C3 and apolipoprotein A5 in lipid metabolism and coronary artery disease.
Dai W et al.
Lipids in Health and Disease, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Emerging Evidence that ApoC-III Inhibitors Provide Novel Options to Reduce the Residual CVD.
Taskinen MR et al.
Current Atherosclerosis Reports, 2019
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene.
Bacchelli E et al.
Journal of Clinical Medicine, 2019
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin D et al.
Nature Genetics, 2018
Frequency and phenotype consequence of APOC3 rare variants in patients with very low triglyceride levels.
Crawford DC et al.
Bmc Medical Genomics, 2018
APOC3 Loss-of-Function Mutations, Remnant Cholesterol, Low-Density Lipoprotein Cholesterol, and Cardiovascular Risk: Mediation- and Meta-Analyses of 137 895 Individuals.
Wulff AB et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2018
Rare non-coding variants are associated with plasma lipid traits in a founder population.
Igartua C et al.
Scientific Reports, 2017
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Dron JS et al.
Journal of Lipid Research, 2017
The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis.
Au A et al.
Atherosclerosis, 2017
A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.
Khetarpal SA et al.
Nature Medicine, 2017
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.
Auer PL et al.
American Journal of Human Genetics, 2016
Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.
Gilly A et al.
Human Molecular Genetics, 2016
What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?
Jeff JM et al.
Current Opinion in Lipidology, 2016
Novel therapies for severe dyslipidemia originating from human genetics.
Gaudet D
Current Opinion in Lipidology, 2016
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 2015
Association of APOC3 Loss-of-Function Mutations With Plasma Lipids and Subclinical Atherosclerosis: The Multi-Ethnic BioImage Study.
Natarajan P et al.
Journal of the American College of Cardiology, 2015
Insights into blood lipids from rare variant discovery.
Schmidt EM et al.
Current Opinion in Genetics & Development, 2015
Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
Crosby J et al.
The New England Journal of Medicine, 2014
Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
Jørgensen AB et al.
The New England Journal of Medicine, 2014
Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families.
Bochem AE et al.
Clinical Genetics, 2014
APOC3 may not be a predictor of risk of ischemic vascular disease in the Chinese population.
Tang L et al.
F1000research, 2014
Assessing association between protein truncating variants and quantitative traits.
Rivas MA et al.
Bioinformatics (oxford, England), 2013
Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.
Motazacker MM et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2013