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Journal Article
Huffman JE, de Vries PS, Morrison AC, Sabater-Lleal M, Kacprowski T, Auer PL, Brody JA, Chasman DI, Chen M-H, Guo X, et al. Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF. Blood. 2015 ;126(11):e19-29.
Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JPA, Peters U, Robinson JG, Sucheston LE, 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.
Ibrahim-Verbaas CA, Fornage M, Bis JC, Choi SHoan, Psaty BM, Meigs JB, Rao M, Nalls M, Fontes JD, O'Donnell CJ, et al. Predicting stroke through genetic risk functions: the CHARGE Risk Score Project. Stroke. 2014 ;45(2):403-12.
van Setten J, Brody JA, Jamshidi Y, Swenson BR, Butler AM, Campbell H, Del Greco FM, Evans DS, Gibson Q, Gudbjartsson DF, et al. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nat Commun. 2018 ;9(1):2904.
Li X, Quick C, Zhou H, Gaynor SM, Liu Y, Chen H, Selvaraj MSunitha, Sun R, Dey R, Arnett DK, et al. Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies. Nat Genet. 2023 ;55(1):154-164.
Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, et al. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet. 2008 ;82(5):1193-201.
Hu X, Qiao D, Kim W, Moll M, Balte PP, Lange LA, Bartz TM, Kumar R, Li X, Yu B, et al. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. Am J Hum Genet. 2022 .
Vuckovic D, Bao EL, Akbari P, Lareau CA, Mousas A, Jiang T, Chen M-H, Raffield LM, Tardaguila M, Huffman JE, et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell. 2020 ;182(5):1214-1231.e11.
Eicher JD, Chami N, Kacprowski T, Nomura A, Chen M-H, Yanek LR, Tajuddin SM, Schick UM, Slater AJ, Pankratz N, et al. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. Am J Hum Genet. 2016 ;99(1):40-55.
Avery CL, He Q, North KE, Ambite JL, Boerwinkle E, Fornage M, Hindorff LA, Kooperberg C, Meigs JB, Pankow JS, et al. A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. PLoS Genet. 2011 ;7(10):e1002322.
Trompet S, Postmus I, Warren HR, Noordam R, Smit RAJ, Theusch E, Li X, Arsenault B, Chasman DI, Hitman GA, et al. The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction. Front Pharmacol. 2021 ;12:679857.
Postmus I, Trompet S, Deshmukh HA, Barnes MR, Li X, Warren HR, Chasman DI, Zhou K, Arsenault BJ, Donnelly LA, et al. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nat Commun. 2014 ;5:5068.
Kent ST, Rosenson RS, Avery CL, Chen Y-derI, Correa A, Cummings SR, Cupples AL, Cushman M, Evans DS, Gudnason V, et al. PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and Stroke: Data From 9 Studies of Blacks and Whites. Circ Cardiovasc Genet. 2017 ;10(4):e001632.
Y Y Wong J, Margolis HG, Machiela M, Zhou W, Odden MC, Psaty BM, Robbins J, Jones RR, Rotter JI, Chanock SJ, et al. Outdoor air pollution and mosaic loss of chromosome Y in older men from the Cardiovascular Health Study. Environ Int. 2018 ;116:239-247.
Xu J, Gaddis NC, Bartz TM, Hou R, Manichaikul AW, Pankratz N, Smith AV, Sun F, Terzikhan N, Markunas CA, et al. Omega-3 Fatty Acids and Genome-wide Interaction Analyses Reveal DPP10-Pulmonary Function Association. Am J Respir Crit Care Med. 2018 .
Heard-Costa NL, Zillikens CM, Monda KL, Johansson A, Harris TB, Fu M, Haritunians T, Feitosa MF, Aspelund T, Eiriksdottir G, et al. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet. 2009 ;5(6):e1000539.
Dastani Z, Hivert M-F, Timpson N, Perry JRB, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen L-P, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 2012 ;8(3):e1002607.
Butler AM, Yin X, Evans DS, Nalls MA, Smith EN, Tanaka T, Li G, Buxbaum SG, Whitsel EA, Alonso A, et al. Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. Circ Cardiovasc Genet. 2012 ;5(6):639-46.
Lubitz SA, Lunetta KL, Lin H, Arking DE, Trompet S, Li G, Krijthe BP, Chasman DI, Barnard J, Kleber ME, et al. Novel genetic markers associate with atrial fibrillation risk in Europeans and Japanese. J Am Coll Cardiol. 2014 ;63(12):1200-10.
Jensen RA, Sim X, Smith AVernon, Li X, Jakobsdottir J, Cheng C-Y, Brody JA, Cotch MFrances, McKnight B, Klein R, et al. Novel Genetic Loci Associated With Retinal Microvascular Diameter. Circ Cardiovasc Genet. 2016 ;9(1):45-54.
Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, Guo X, Franceschini N, Cheng C-Y, Sim X, et al. Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. PLoS One. 2018 ;13(6):e0198166.
Wain LV, Vaez A, Jansen R, Joehanes R, van der Most PJ, A Erzurumluoglu M, O'Reilly PF, Cabrera CP, Warren HR, Rose LM, et al. Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. Hypertension. 2017 .
Smith NL, Chen M-H, Dehghan A, Strachan DP, Basu S, Soranzo N, Hayward C, Rudan I, Sabater-Lleal M, Bis JC, et al. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circulation. 2010 ;121(12):1382-92.
Elgart M, Lyons G, Romero-Brufau S, Kurniansyah N, Brody JA, Guo X, Lin HJ, Raffield L, Gao Y, Chen H, et al. Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations. Commun Biol. 2022 ;5(1):856.
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, et al. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010 ;42(2):105-16.

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