selected scholarly activity
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chapters
- A translational view of the genetics of lipodystrophy and ectopic fat deposition.. Progress in Molecular Biology and Translational Science. 159-196. 2010
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conferences
- ATGL Haplotypes Are Associated with Plasma Triglyceride Concentrations in the Greenland Inuit. Arteriosclerosis, Thrombosis and Vascular Biology. E59-E59. 2009
- SLC01B1 Is Not Associated with Statin-Induced Myopathy in Patients from a Tertiary Referral Lipid Clinic. Arteriosclerosis, Thrombosis and Vascular Biology. E23-E23. 2009
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journal articles
- Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution. Atherosclerosis. 250:63-68. 2016
- Common Low-Density Lipoprotein Receptor p.G116S Variant Has a Large Effect on Plasma Low-Density Lipoprotein Cholesterol in Circumpolar Inuit Populations. Circulation. Genomic and precision medicine. 8:100-105. 2015
- Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 518:102-106. 2015
- LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias. Journal of Lipid Research. 55:765-772. 2014
- Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias. Canadian Journal of Cardiology. 29:934-939. 2013
- Genetic Determinants of “Cognitive Impairment, No Dementia”. Journal of Alzheimer's Disease. 33:831-840. 2013
- Using Mendelian randomization to determine causative factors in cardiovascular disease. Journal of Internal Medicine. 273:44-47. 2013
- The Complex Genetic Basis of Plasma Triglycerides. Current Atherosclerosis Reports. 14:227-234. 2012
- Allelic and phenotypic spectrum of plasma triglycerides. Biochimica et Biophysica Acta: international journal of biochemistry and biophysics. 1821:833-842. 2012
- Excess of Rare Variants in Non–Genome-Wide Association Study Candidate Genes in Patients With Hypertriglyceridemia. Circulation. Genomic and precision medicine. 5:66-72. 2012
- An Increased Burden of Common and Rare Lipid-Associated Risk Alleles Contributes to the Phenotypic Spectrum of Hypertriglyceridemia. Arteriosclerosis, Thrombosis and Vascular Biology. 31:1916-1926. 2011
- Genetic bases of hypertriglyceridemic phenotypes. Current Opinion in Lipidology. 22:247-253. 2011
- The transcription factor cyclic AMP–responsive element–binding protein H regulates triglyceride metabolism. Nature Medicine. 17:812-815. 2011
- Sortilin: An unusual suspect in cholesterol metabolism. BioEssays. 33:430-437. 2011
- Bias due to selection of rare variants using frequency in controls. Nature Genetics. 43:394-395. 2011
- Genetic determinants of plasma triglycerides. Journal of Lipid Research. 52:189-206. 2011
- Genetic variation in hyaluronan metabolism loci is associated with plasma plasminogen activator inhibitor-1 concentration. Blood. 116:2160-2163. 2010
- Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 466:707-713. 2010
- Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nature Genetics. 42:684-687. 2010
- Translating Genomic Analyses into Improved Management of Coronary Artery Disease. Future Cardiology. 6:507-521. 2010
- Rare ATGL haplotypes are associated with increased plasma triglyceride concentrations in the Greenland Inuit. International Journal of Circumpolar Health. 69:3-12. 2010
- Predictive genetic testing for coronary artery disease. Critical Reviews in Clinical Laboratory Sciences. 46:343-360. 2009
- Conservation of Lotus and Arabidopsis Basic Helix-Loop-Helix Proteins Reveals New Players in Root Hair Development . Plant Physiology. 151:1175-1185. 2009