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ARIC Publications

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Amendola LM, Dorschner MO, Robertson PD, et al. "Actionable exomic incidental findings in 6503 participants: challenges of variant classification." Genome Res. 2015;25(3):305-15.
Chanda P, Yuhki N, Li M, et al. "Comprehensive evaluation of imputation performance in African Americans." J Hum Genet. 2012;57(7):411-21.
Chen H, Huffman JE, Brody JA, et al. "Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies." Am J Hum Genet. 2019;104(2):260-274.
Cotlarciuc I, Malik R, Holliday EG, et al. "Effect of genetic variants associated with plasma homocysteine levels on stroke risk." Stroke. 2014;45(7):1920-4.
Graff M, Gordon-Larsen P, Lim U, et al. "The influence of obesity-related single nucleotide polymorphisms on BMI across the life course: the PAGE study." Diabetes. 2013;62(5):1763-7.
Guo D-C, Grove ML, Prakash SK, et al. "Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections." Am J Hum Genet. 2016;99(3):762-769.
Hamidovic A, Goodloe RJ, Young TR, et al. "Genetic analysis of a population heavy drinking phenotype identifies risk variants in whites." J Clin Psychopharmacol. 2013;33(2):206-10.
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.
Hartz SM, Short SE, Saccone NL, et al. "Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers." Arch Gen Psychiatry. 2012;69(8):854-60.
Holmes MV, Lange LA, Palmer T, et al. "Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis." Am J Hum Genet. 2014;94(2):198-208.
Huffman JE, de Vries PS, Morrison AC, et al. "Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF." Blood. 2015;126(11):e19-29.
Levy D, Ehret GB, Rice K, et al. "Genome-wide association study of blood pressure and hypertension." Nat Genet. 2009;41(6):677-87.
Li AH, Morrison AC, Kovar C, et al. "Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease." Nat Genet. 2015;47(6):640-2.
Lin H, Mueller-Nurasyid M, Smith AV, et al. "Gene-gene Interaction Analyses for Atrial Fibrillation." Sci Rep. 2016;6:35371.
Liu C-T, Young KL, Brody JA, et al. "Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study." Circ Cardiovasc Genet. 2014;7(3):344-9.
Liu DJ, Peloso GM, Yu H, et al. "Exome-wide association study of plasma lipids in >300,000 individuals." Nat Genet. 2017;49(12):1758-1766.
Liu Y, Chen S, Li Z, Morrison AC, Boerwinkle E. "ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies." Am J Hum Genet. 2019;104(3):410-421.
Logsdon BA, Dai JY, Auer PL, et al. "A variational Bayes discrete mixture test for rare variant association." Genet Epidemiol. 2014;38(1):21-30.
Lubitz SA, Brody JA, Bihlmeyer NA, et al. "Whole Exome Sequencing in Atrial Fibrillation." PLoS Genet. 2016;12(9):e1006284.
Macri V, Brody JA, Arking DE, et al. "Common Coding Variants in Are Associated With the Nav1.8 Late Current and Cardiac Conduction." Circ Genom Precis Med. 2018;11(5):e001663.
Marioni RE, Yang J, Dykiert D, et al. "Assessing the genetic overlap between BMI and cognitive function." Mol Psychiatry. 2016;21(10):1477-82.
Mirzaa GM, Campbell CD, Solovieff N, et al. "Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism." JAMA Neurol. 2016;73(7):836-845.
Musunuru K, Romaine SPR, Lettre G, et al. "Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project." PLoS One. 2012;7(5):e36473.
Rannikmae K, Sivakumaran V, Millar H, et al. " is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls." Neurology. 2017;89(17):1829-1839.
Rasmussen-Torvik LJ, Alonso A, Li M, et al. "Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose." Genet Epidemiol. 2010;34(7):665-73.
Rhodin K, Divaris K, North KE, Barros SP, Moss K, Beck JD. "Chronic periodontitis genome-wide association studies: gene-centric and gene set enrichment analyses." J Dent Res. 2014;93(9):882-90.
Rosenthal EA, Ranchalis J, Crosslin DR, et al. "Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia." Am J Hum Genet. 2013;93(6):1035-45.
Sun D, Tiedt S, Yu B, et al. "A prospective study of serum metabolites and risk of ischemic stroke." Neurology. 2019;92(16):e1890-e1898.
Watkin LB, Jessen B, Wiszniewski W, et al. "COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis." Nat Genet. 2015;47(6):654-60.
Wei P, Cao Y, Zhang Y, Xu Z, Kwak I-Y, Boerwinkle E. "On Robust Association Testing for Quantitative Traits and Rare Variants." G3 (Bethesda). 2016;6(12):3941-3950.
Weng L-C, Cushman M, Pankow JS, Basu S, Boerwinkle E, Folsom AR. "A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study." Hum Mol Genet. 2015;24(8):2401-8.
Weng L-C, Tang W, Rich SS, et al. "A genetic association study of D-dimer levels with 50K SNPs from a candidate gene chip in four ethnic groups." Thromb Res. 2014;134(2):462-7.
Wessel J, Chu AY, Willems SM, et al. "Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility." Nat Commun. 2015;6:5897.
Wu B. "Sequence Kernel Association Test of Multiple Continuous Phenotypes." Genet Epidemiol. 2016;40(2):91-100.
Wu B, Pankow JS. "Sequence Kernel Association Analysis of Rare Variant Set Based on the Marginal Regression Model for Binary Traits." Genet Epidemiol. 2015;39(6):399-405.
Wu B, Guan W. "On Efficient and Accurate Calculation of Significance P-Values for Sequence Kernel Association Testing of Variant Set." Ann Hum Genet. 2016;80(2):123-35.
Wuttke M, Li Y, Li M, et al. "A catalog of genetic loci associated with kidney function from analyses of a million individuals." Nat Genet. 2019;51(6):957-972.
Yazdani A, Yazdani A. "Rare variants analysis using penalization methods for whole genome sequence data." BMC Bioinformatics. 2015;16:405.