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ARIC Publications

Filters: Keyword is Genetic Association Studies  [Clear All Filters]
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.
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.
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.
Petty LE, Highland HM, Gamazon ER, et al. "Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample." Hum Mol Genet. 2019;28(7):1212-1224.
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.
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.
de Haan HG, A Vlieg vanHylckama, Lotta LA, et al. "Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes." J Thromb Haemost. 2018;16(12):2432-2441.
Marioni RE, Yang J, Dykiert D, et al. "Assessing the genetic overlap between BMI and cognitive function." Mol Psychiatry. 2016;21(10):1477-82.
Peloso GM, Lange LA, Varga TV, et al. "Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study." Circ Cardiovasc Genet. 2016;9(4):368-74.
Norby FL, Eryd SAdamsson, Niemeijer MN, et al. "Association of Lipid-Related Genetic Variants with the Incidence of Atrial Fibrillation: The AFGen Consortium." PLoS One. 2016;11(3):e0151932.
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.
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.
Lin H, Mueller-Nurasyid M, Smith AV, et al. "Gene-gene Interaction Analyses for Atrial Fibrillation." Sci Rep. 2016;6:35371.
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.
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.
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.
Wu B. "Sequence Kernel Association Test of Multiple Continuous Phenotypes." Genet Epidemiol. 2016;40(2):91-100.
Lubitz SA, Brody JA, Bihlmeyer NA, et al. "Whole Exome Sequencing in Atrial Fibrillation." PLoS Genet. 2016;12(9):e1006284.
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.
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.
Fretts AM, Follis JL, Nettleton JA, et al. "Consumption of meat is associated with higher fasting glucose and insulin concentrations regardless of glucose and insulin genetic risk scores: a meta-analysis of 50,345 Caucasians." Am J Clin Nutr. 2015;102(5):1266-78.
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.
Beck TF, Campeau PM, Jhangiani SN, et al. "FBN1 contributing to familial congenital diaphragmatic hernia." Am J Med Genet A. 2015;167A(4):831-6.
Karaca E, Harel T, Pehlivan D, et al. "Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease." Neuron. 2015;88(3):499-513.
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.
Tin A, Köttgen A, Folsom AR, et al. "Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study." BMC Genet. 2015;16:56.
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.
Zhao J, Zhu Y, Boerwinkle E. "Pathway analysis with next-generation sequencing data." Eur J Hum Genet. 2015;23(4):507-15.
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.
Yazdani A, Yazdani A. "Rare variants analysis using penalization methods for whole genome sequence data." BMC Bioinformatics. 2015;16:405.
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.
Peloso GM, Auer PL, Bis JC, et al. "Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks." Am J Hum Genet. 2014;94(2):223-32.
Bis JC, Destefano A, Liu X, et al. "Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium." PLoS One. 2014;9(6):e99798.
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.
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.
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.
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.
Franceschini N, Hu Y, Reiner AP, et al. "Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study." PLoS One. 2014;9(12):e113203.
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.
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.
Nguyen K-DH, Pihur V, Ganesh SK, et al. "Effects of rare and common blood pressure gene variants on essential hypertension: results from the Family Blood Pressure Program, CLUE, and Atherosclerosis Risk in Communities studies." Circ Res. 2013;112(2):318-26.
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.
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.
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.
Zhang L, Bůžková P, Wassel CL, et al. "Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four US populations: the Population Architecture using Genomics and Epidemiology (PAGE) study." Atherosclerosis. 2013;228(2):390-9.
Pendergrass SA, Brown-Gentry K, Dudek S, et al. "Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network." PLoS Genet. 2013;9(1):e1003087.
Dumitrescu L, Carty CL, Franceschini N, et al. "Post-genome-wide association study challenges for lipid traits: describing age as a modifier of gene-lipid associations in the Population Architecture using Genomics and Epidemiology (PAGE) study." Ann Hum Genet. 2013;77(5):416-25.
Kantor DB, Palmer CD, Young TR, et al. "Replication and fine mapping of asthma-associated loci in individuals of African ancestry." Hum Genet. 2013;132(9):1039-47.
Prudente S, Copetti M, Morini E, et al. "The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry." Nutr Metab Cardiovasc Dis. 2013;23(11):1043-9.
Tin A, Colantuoni E, Boerwinkle E, et al. "Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate." J Hum Genet. 2013;58(7):461-6.
Chanda P, Yuhki N, Li M, et al. "Comprehensive evaluation of imputation performance in African Americans." J Hum Genet. 2012;57(7):411-21.
Tennessen JA, Bigham AW, O'Connor TD, et al. "Evolution and functional impact of rare coding variation from deep sequencing of human exomes." Science. 2012;337(6090):64-9.
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.
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.
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.
Levy D, Ehret GB, Rice K, et al. "Genome-wide association study of blood pressure and hypertension." Nat Genet. 2009;41(6):677-87.