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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.
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.
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.
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.
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.
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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.
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.
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.
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.
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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.
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.
Erdmann J, Stark K, Esslinger UB, et al. "Dysfunctional nitric oxide signalling increases risk of myocardial infarction." Nature. 2013;504(7480):432-6.
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Farlow JL, Robak LA, Hetrick K, et al. "Whole-Exome Sequencing in Familial Parkinson Disease." JAMA Neurol. 2016;73(1):68-75.
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.
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.
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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.
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.
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.
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.
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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.
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.
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.
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.
Lindström S, Brody JA, Turman C, et al. "A large-scale exome array analysis of venous thromboembolism." Genet Epidemiol. 2019;43(4):449-457.
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 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.
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.
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.
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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.
Natarajan P, Bis JC, Bielak LF, et al. "Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis." Circ Cardiovasc Genet. 2016;9(6):511-520.
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Rhee EP, Yang Q, Yu B, et al. "An exome array study of the plasma metabolome." Nat Commun. 2016;7:12360.
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.
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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.
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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.
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.
White J, Beck CR, Harel T, et al. "POGZ truncating alleles cause syndromic intellectual disability." Genome Med. 2016;8(1):3.
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.
Wu B. "Sequence Kernel Association Test of Multiple Continuous Phenotypes." Genet Epidemiol. 2016;40(2):91-100.
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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.
Yu B, Li AH, Metcalf GA, et al. "Loss-of-function variants influence the human serum metabolome." Sci Adv. 2016;2(8):e1600800.
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Zhao J, Zhu Y, Boerwinkle E. "Pathway analysis with next-generation sequencing data." Eur J Hum Genet. 2015;23(4):507-15.