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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.
Farlow JL, Robak LA, Hetrick K, et al. "Whole-Exome Sequencing in Familial Parkinson Disease." JAMA Neurol. 2016;73(1):68-75.
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.
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.
Lubitz SA, Brody JA, Bihlmeyer NA, et al. "Whole Exome Sequencing in Atrial Fibrillation." PLoS Genet. 2016;12(9):e1006284.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
White J, Beck CR, Harel T, et al. "POGZ truncating alleles cause syndromic intellectual disability." Genome Med. 2016;8(1):3.
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.
Zhao J, Zhu Y, Boerwinkle E. "Pathway analysis with next-generation sequencing data." Eur J Hum Genet. 2015;23(4):507-15.
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.
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.
Yu B, Li AH, Metcalf GA, et al. "Loss-of-function variants influence the human serum metabolome." Sci Adv. 2016;2(8):e1600800.
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.
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.
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.
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.
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.
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.
Lindström S, Brody JA, Turman C, et al. "A large-scale exome array analysis of venous thromboembolism." Genet Epidemiol. 2019;43(4):449-457.
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.
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Rhee EP, Yang Q, Yu B, et al. "An exome array study of the plasma metabolome." Nat Commun. 2016;7:12360.
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.
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.
Erdmann J, Stark K, Esslinger UB, et al. "Dysfunctional nitric oxide signalling increases risk of myocardial infarction." Nature. 2013;504(7480):432-6.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.