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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.
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Dastani Z, Johnson T, Kronenberg F, Nelson CP, Assimes TL, März W. "The shared allelic architecture of adiponectin levels and coronary artery disease." Atherosclerosis. 2013;229(1):145-8.
Day FR, Thompson DJ, Helgason H, et al. "Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk." Nat Genet. 2017;49(6):834-841.
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Hancock DB, Eijgelsheim M, Wilk JB, et al. "Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function." Nat Genet. 2010;42(1):45-52.
Hinney A, Kesselmeier M, Jall S, et al. "Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index." Mol Psychiatry. 2017;22(2):192-201.
Huang Z, Rustagi N, Veeraraghavan N, et al. "A hybrid computational strategy to address WGS variant analysis in >5000 samples." BMC Bioinformatics. 2016;17(1):361.
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Jansen H, Loley C, Lieb W, et al. "Genetic variants primarily associated with type 2 diabetes are related to coronary artery disease risk." Atherosclerosis. 2015;241(2):419-26.
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Malik R, Chauhan G, Traylor M, et al. "Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes." Nat Genet. 2018;50(4):524-537.
Morrison AC, Voorman A, Johnson AD, et al. "Whole-genome sequence-based analysis of high-density lipoprotein cholesterol." Nat Genet. 2013;45(8):899-901.
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Parsa A, Fuchsberger C, Köttgen A, et al. "Common variants in Mendelian kidney disease genes and their association with renal function." J Am Soc Nephrol. 2013;24(12):2105-17.
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.
Pendergrass SA, Brown-Gentry K, Dudek SM, et al. "The use of phenome-wide association studies (PheWAS) for exploration of novel genotype-phenotype relationships and pleiotropy discovery." Genet Epidemiol. 2011;35(5):410-22.
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Wang QY, Song J, Gibbs RA, Boerwinkle E, Dong JF. "Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes." J Thromb Haemost. 2013;11(2):261-9.
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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.