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ARIC Publications

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2021
Taliun D, Harris DN, Kessler MD, et al. "Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program." Nature. 2021;590(7845):290-299.
2020
Kessler MD, Loesch DP, Perry JA, et al. "De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population." Proc Natl Acad Sci U S A. 2020;117(5):2560-2569.
2018
Choi SHoan, Weng L-C, Roselli C, et al. "Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation." JAMA. 2018;320(22):2354-2364.
2016
Khera AV, Won H-H, Peloso GM, et al. "Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia." J Am Coll Cardiol. 2016;67(22):2578-89.
Bell EJ, Lutsey PL, Basu S, Cushman M, Heckbert SR, Lloyd-Jones DM. "Lifetime Risk of Venous Thromboembolism in Two Cohort Studies." Am J Med. 2016;129(3):339.e19-26.
Harel T, Yesil G, Bayram Y, et al. "Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy." Am J Hum Genet. 2016;98(3):562-570.
White J, Beck CR, Harel T, et al. "POGZ truncating alleles cause syndromic intellectual disability." Genome Med. 2016;8(1):3.
Zanoni P, Khetarpal SA, Larach DB, et al. "Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease." Science. 2016;351(6278):1166-71.
2015
C Quarta C, Buxbaum JN, Shah AM, et al. "The amyloidogenic V122I transthyretin variant in elderly black Americans." N Engl J Med. 2015;372(1):21-9.
Polfus LM, Gibbs RA. "Coronary heart disease and genetic variants with low phospholipase A2 activity." N Engl J Med. 2015;372(3):295-6.
Do R, Stitziel NO, Won H-H, et al. "Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction." Nature. 2015;518(7537):102-6.
2014
Bihlmeyer NA, Brody JA, Smith A V, et al. "Genetic diversity is a predictor of mortality in humans." BMC Genet. 2014;15:159.
Crosby J, Peloso GM, Auer PL, et al. "Loss-of-function mutations in APOC3, triglycerides, and coronary disease." N Engl J Med. 2014;371(1):22-31.
2013
Morrison AC, Voorman A, Johnson AD, et al. "Whole-genome sequence-based analysis of high-density lipoprotein cholesterol." Nat Genet. 2013;45(8):899-901.
2001
Rasmussen ML, Folsom AR, Catellier DJ, Tsai MY, Garg U, Eckfeldt JH. "A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study." Atherosclerosis. 2001;154(3):739-46.