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ARIC Publications

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2021
Goodrich JK, Singer-Berk M, Son R, et al. "Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes." Nat Commun. 2021;12(1):3505.
Thibord F, Song C, Pattee J, et al. FGL1 as a modulator of plasma D-dimer levels: Exome-wide marker analysis of plasma tPA, PAI-1, and D-dimer.. Vol. 19.; 2021. J Thromb Haemost 19(8).
2019
Flannick J, Mercader JM, Fuchsberger C, et al. "Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls." Nature. 2019;570(7759):71-76.
Spracklen CN, Karaderi T, Yaghootkar H, et al. "Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology." Am J Hum Genet. 2019;105(1):15-28.
Lindström S, Brody JA, Turman C, et al. "A large-scale exome array analysis of venous thromboembolism." Genet Epidemiol. 2019;43(4):449-457.
He KY, Li X, Kelly TN, et al. "Leveraging linkage evidence to identify low-frequency and rare variants on 16p13 associated with blood pressure using TOPMed whole genome sequencing data." Hum Genet. 2019;138(2):199-210.
Justice AE, Karaderi T, Highland HM, et al. "Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution." Nat Genet. 2019;51(3):452-469.
2018
Jian X, Satizabal CL, Smith AV, et al. "Exome Chip Analysis Identifies Low-Frequency and Rare Variants in MRPL38 for White Matter Hyperintensities on Brain Magnetic Resonance Imaging." Stroke. 2018;49(8):1812-1819.
Prins BP, Mead TJ, Brody JA, et al. "Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6." Genome Biol. 2018;19(1):87.
Bihlmeyer NA, Brody JA, Smith A V, et al. "ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals." Circ Genom Precis Med. 2018;11(1):e001758.
Coban-Akdemir Z, White JJ, Song X, et al. "Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles." Am J Hum Genet. 2018;103(2):171-187.
Tin A, Li Y, Brody JA, et al. "Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels." Nat Commun. 2018;9(1):4228.
Saeed A, Feofanova EV, Yu B, et al. "Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease." J Am Coll Cardiol. 2018;72(2):156-169.
2017
Li M, Li Y, Weeks O, et al. " and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function." J Am Soc Nephrol. 2017;28(3):981-994.
van den Berg ME, Warren HR, Cabrera CP, et al. "Discovery of novel heart rate-associated loci using the Exome Chip." Hum Mol Genet. 2017;26(12):2346-2363.
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.
Eldomery MK, Coban-Akdemir Z, Harel T, et al. "Lessons learned from additional research analyses of unsolved clinical exome cases." Genome Med. 2017;9(1):26.
Nandakumar P, Lee D, Richard MA, et al. "Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry." J Hypertens. 2017;35(7):1381-1389.
Sims R, van der Lee SJ, Naj AC, et al. "Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease." Nat Genet. 2017;49(9):1373-1384.
Simino J, Wang Z, Bressler J, et al. "Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study." PLoS One. 2017;12(7):e0180046.
de Vries PS, Yu B, Feofanova EV, et al. "Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study." Hum Mol Genet. 2017;26(17):3442-3450.
2016
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.
Liu X, Wu C, Li C. "dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs." Hum Mutat. 2016;37(3):235-41.
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.
Rhee EP, Yang Q, Yu B, et al. "An exome array study of the plasma metabolome." Nat Commun. 2016;7:12360.
Chami N, Chen M-H, Slater AJ, et al. "Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits." Am J Hum Genet. 2016;99(1):8-21.
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.
Tajuddin SM, Schick UM, Eicher JD, et al. "Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases." Am J Hum Genet. 2016;99(1):22-39.
Yu B, Li AH, Metcalf GA, et al. "Loss-of-function variants influence the human serum metabolome." Sci Adv. 2016;2(8):e1600800.
Liu C, Kraja AT, Smith JA, et al. "Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci." Nat Genet. 2016;48(10):1162-70.
"Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits." Nat Genet. 2016;48(8):867-76.
Bayram Y, Karaca E, Akdemir ZCoban, et al. "Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin." J Clin Invest. 2016;126(2):762-78.
Natarajan P, Bis JC, Bielak LF, et al. "Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis." Circ Cardiovasc Genet. 2016;9(6):511-520.
Eicher JD, Chami N, Kacprowski T, et al. "Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals." Am J Hum Genet. 2016;99(1):40-55.
White J, Beck CR, Harel T, et al. "POGZ truncating alleles cause syndromic intellectual disability." Genome Med. 2016;8(1):3.
Yu B, Pulit SL, Hwang S-J, et al. "Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk." Circ Cardiovasc Genet. 2016;9(1):64-70.
Kan M, Auer PL, Wang GT, et al. "Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project." Eur J Hum Genet. 2016;24(8):1181-7.
Lalani SR, Liu P, Rosenfeld JA, et al. "Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations." Am J Hum Genet. 2016;98(2):347-57.
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.
Polfus LM, Khajuria RK, Schick UM, et al. "Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis." Am J Hum Genet. 2016;99(2):481-8.
Farlow JL, Robak LA, Hetrick K, et al. "Whole-Exome Sequencing in Familial Parkinson Disease." JAMA Neurol. 2016;73(1):68-75.
2015
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.
Schick UM, Auer PL, Bis JC, et al. "Association of exome sequences with plasma C-reactive protein levels in >9000 participants." Hum Mol Genet. 2015;24(2):559-71.
Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K. "Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies." Hum Mol Genet. 2015;24(8):2125-37.
Polfus LM, Gibbs RA. "Coronary heart disease and genetic variants with low phospholipase A2 activity." N Engl J Med. 2015;372(3):295-6.
Gonzaga-Jauregui C, Harel T, Gambin T, et al. "Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy." Cell Rep. 2015;12(7):1169-83.
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.
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.
Bayram Y, Gulsuner S, Guran T, et al. "Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism." J Clin Endocrinol Metab. 2015;100(5):E808-14.
Bainbridge MN, Davis EE, Choi W-Y, et al. "Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction." Circ Cardiovasc Genet. 2015;8(4):544-52.
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.
Auer PL, Nalls M, Meschia JF, et al. "Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project." JAMA Neurol. 2015;72(7):781-8.
2014
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.
Tabor HK, Auer PL, Jamal SM, et al. "Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results." Am J Hum Genet. 2014;95(2):183-93.
Gordon AS, Tabor HK, Johnson AD, et al. "Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset." Hum Mol Genet. 2014;23(8):1957-63.
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.
Lange LA, Hu Y, Zhang H, et al. "Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol." Am J Hum Genet. 2014;94(2):233-45.
2013
Fu W, O'Connor TD, Jun G, et al. "Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants." Nature. 2013;493(7431):216-20.
Grove ML, Yu B, Cochran BJ, et al. "Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium." PLoS One. 2013;8(7):e68095.
Johnsen JM, Auer PL, Morrison AC, et al. "Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project." Blood. 2013;122(4):590-7.
Erdmann J, Stark K, Esslinger UB, et al. "Dysfunctional nitric oxide signalling increases risk of myocardial infarction." Nature. 2013;504(7480):432-6.
Duan Q, Liu EYi, Auer PL, et al. "Imputation of coding variants in African Americans: better performance using data from the exome sequencing project." Bioinformatics. 2013;29(21):2744-9.
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.
2012
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.
Auer PL, Johnsen JM, Johnson AD, et al. "Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project." Am J Hum Genet. 2012;91(5):794-808.