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Journal Article

Goodrich JK, Singer-Berk M, Son R, Sveden A, Wood J, England E, Cole JB, Weisburd B, Watts N, Caulkins L, et al. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes. Nat Commun. 2021 ;12(1):3505.

Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni S, Ganna A, Chen J, Buchkovich ML, Mora S, et al. Discovery and refinement of loci associated with lipid levels. Nat Genet. 2013 ;45(11):1274-1283.

Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves ACouto, et al. Exome-wide association study of plasma lipids in >300,000 individuals. Nat Genet. 2017 ;49(12):1758-1766.

Huang J, Sabater-Lleal M, Asselbergs FW, Tregouet D, Shin S-Y, Ding J, Baumert J, Oudot-Mellakh T, Folkersen L, Johnson AD, et al. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation. Blood. 2012 ;120(24):4873-81.

Sarwar N, Sandhu MS, Ricketts SL, Butterworth AS, Di Angelantonio E, S Boekholdt M, Ouwehand W, Watkins H, Samani NJ, Saleheen D, et al. Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies. Lancet. 2010 ;375(9726):1634-9.