ARIC Publications
Filters: Keyword is Exome [Clear All Filters]
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes." Nat Commun. 2021;12(1):3505.
"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).
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls." Nature. 2019;570(7759):71-76.
"Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology." Am J Hum Genet. 2019;105(1):15-28.
"A large-scale exome array analysis of venous thromboembolism." Genet Epidemiol. 2019;43(4):449-457.
"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.
"Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution." Nat Genet. 2019;51(3):452-469.
"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.
"Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6." Genome Biol. 2018;19(1):87.
"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.
"Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles." Am J Hum Genet. 2018;103(2):171-187.
"Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels." Nat Commun. 2018;9(1):4228.
"Remnant-Like Particle Cholesterol, Low-Density Lipoprotein Triglycerides, and Incident Cardiovascular Disease." J Am Coll Cardiol. 2018;72(2):156-169.
" and Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function." J Am Soc Nephrol. 2017;28(3):981-994.
"Discovery of novel heart rate-associated loci using the Exome Chip." Hum Mol Genet. 2017;26(12):2346-2363.
"Exome-wide association study of plasma lipids in >300,000 individuals." Nat Genet. 2017;49(12):1758-1766.
"Lessons learned from additional research analyses of unsolved clinical exome cases." Genome Med. 2017;9(1):26.
"Rare coding variants associated with blood pressure variation in 15 914 individuals of African ancestry." J Hypertens. 2017;35(7):1381-1389.
"Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease." Nat Genet. 2017;49(9):1373-1384.
"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.
"Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study." Hum Mol Genet. 2017;26(17):3442-3450.
"Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study." Circ Cardiovasc Genet. 2016;9(4):368-74.
"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.
"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.
"An exome array study of the plasma metabolome." Nat Commun. 2016;7:12360.
"Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits." Am J Hum Genet. 2016;99(1):8-21.
"Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections." Am J Hum Genet. 2016;99(3):762-769.
"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.
"Loss-of-function variants influence the human serum metabolome." Sci Adv. 2016;2(8):e1600800.
"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.
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin." J Clin Invest. 2016;126(2):762-78.
"Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis." Circ Cardiovasc Genet. 2016;9(6):511-520.
"Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals." Am J Hum Genet. 2016;99(1):40-55.
"POGZ truncating alleles cause syndromic intellectual disability." Genome Med. 2016;8(1):3.
"Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk." Circ Cardiovasc Genet. 2016;9(1):64-70.
"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.
"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.
"On Robust Association Testing for Quantitative Traits and Rare Variants." G3 (Bethesda). 2016;6(12):3941-3950.
"Sequence Kernel Association Test of Multiple Continuous Phenotypes." Genet Epidemiol. 2016;40(2):91-100.
"Whole Exome Sequencing in Atrial Fibrillation." PLoS Genet. 2016;12(9):e1006284.
"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.
"Whole-Exome Sequencing in Familial Parkinson Disease." JAMA Neurol. 2016;73(1):68-75.
"Actionable exomic incidental findings in 6503 participants: challenges of variant classification." Genome Res. 2015;25(3):305-15.
"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.
"Association of exome sequences with plasma C-reactive protein levels in >9000 participants." Hum Mol Genet. 2015;24(2):559-71.
"Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies." Hum Mol Genet. 2015;24(8):2125-37.
"Coronary heart disease and genetic variants with low phospholipase A2 activity." N Engl J Med. 2015;372(3):295-6.
"Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy." Cell Rep. 2015;12(7):1169-83.
"Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction." Nature. 2015;518(7537):102-6.
"FBN1 contributing to familial congenital diaphragmatic hernia." Am J Med Genet A. 2015;167A(4):831-6.
"Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism." J Clin Endocrinol Metab. 2015;100(5):E808-14.
"Loss of Function Mutations in NNT Are Associated With Left Ventricular Noncompaction." Circ Cardiovasc Genet. 2015;8(4):544-52.
"Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility." Nat Commun. 2015;6:5897.
"Pathway analysis with next-generation sequencing data." Eur J Hum Genet. 2015;23(4):507-15.
"Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project." JAMA Neurol. 2015;72(7):781-8.
"Loss-of-function mutations in APOC3, triglycerides, and coronary disease." N Engl J Med. 2014;371(1):22-31.
"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.
"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.
"A variational Bayes discrete mixture test for rare variant association." Genet Epidemiol. 2014;38(1):21-30.
"Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol." Am J Hum Genet. 2014;94(2):233-45.
"Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants." Nature. 2013;493(7431):216-20.
"Best practices and joint calling of the HumanExome BeadChip: the CHARGE Consortium." PLoS One. 2013;8(7):e68095.
"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.
"Dysfunctional nitric oxide signalling increases risk of myocardial infarction." Nature. 2013;504(7480):432-6.
"Imputation of coding variants in African Americans: better performance using data from the exome sequencing project." Bioinformatics. 2013;29(21):2744-9.
"Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia." Am J Hum Genet. 2013;93(6):1035-45.
"Evolution and functional impact of rare coding variation from deep sequencing of human exomes." Science. 2012;337(6090):64-9.
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