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Journal Article
Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang Z-Z, Bizon C, Lange EM, Smith JD, Turner EH, 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, Pankratz N, Pazoki R, Brody JA, Chen M-H, Auer PL, Floyd JS, Huang J, 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(3):785.
Pankratz N, Wei P, Brody JA, Chen M-H, Vries PS, Huffman JE, Stimson MRachel, Auer PL, Boerwinkle E, Cushman M, et al. Whole exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors. Hum Mol Genet. 2022 .
Benjamin EJ, Rice KM, Arking DE, Pfeufer A, van Noord C, Smith AV, Schnabel RB, Bis JC, Boerwinkle E, Sinner MF, et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet. 2009 ;41(8):879-81.
Keller MF, Reiner AP, Okada Y, van Rooij FJA, Johnson AD, Chen M-H, Smith AV, Morris AP, Tanaka T, Ferrucci L, et al. Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet. 2014 ;23(25):6944-60.
Kanoni S, Nettleton JA, Hivert M-F, Ye Z, van Rooij FJA, Shungin D, Sonestedt E, Ngwa JS, Wojczynski MK, Lemaitre RN, et al. Total zinc intake may modify the glucose-raising effect of a zinc transporter (SLC30A8) variant: a 14-cohort meta-analysis. Diabetes. 2011 ;60(9):2407-16.
Tin A, Marten J, Kuhns VLHalperin, Li Y, Wuttke M, Kirsten H, Sieber KB, Qiu C, Gorski M, Yu Z, et al. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Genet. 2019 ;51(10):1459-1474.
McKeown NM, Dashti HS, Ma J, Haslam DE, de Jong JCKiefte-, Smith CE, Tanaka T, Graff M, Lemaitre RN, Rybin D, et al. Sugar-sweetened beverage intake associations with fasting glucose and insulin concentrations are not modified by selected genetic variants in a ChREBP-FGF21 pathway: a meta-analysis. Diabetologia. 2018 ;61(2):317-330.
Haslam DE, Peloso GM, Guirette M, Imamura F, Bartz TM, Pitsillides AN, Wang CA, Li-Gao R, Westra JM, Pitkänen N, et al. Sugar-Sweetened Beverage Consumption May Modify Associations Between Genetic Variants in the CHREBP (Carbohydrate Responsive Element Binding Protein) Locus and HDL-C (High-Density Lipoprotein Cholesterol) and Triglyceride Concentrations. Circ Genom Precis Med. 2021 ;14(4):e003288.
Blum MR, Bauer DC, Collet T-H, Fink HA, Cappola AR, da Costa BR, Wirth CD, Peeters RP, Asvold BO, Elzen WPJ den, et al. Subclinical thyroid dysfunction and fracture risk: a meta-analysis. JAMA. 2015 ;313(20):2055-65.
Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikäinen L-P, et al. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol. 2016 .
Randall JC, Winkler TW, Kutalik Z, Berndt SI, Jackson AU, Monda KL, Kilpeläinen TO, Esko T, Mägi R, Li S, et al. Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet. 2013 ;9(6):e1003500.
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, N Rayner W, et al. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
Jakobsdottir J, van der Lee SJ, Bis JC, Chouraki V, Li-Kroeger D, Yamamoto S, Grove ML, Naj A, Vronskaya M, Salazar JL, et al. Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease. PLoS Genet. 2016 ;12(10):e1006327.
Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, 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.
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.
Ried JS, M JJeff, Chu AY, Bragg-Gresham JL, van Dongen J, Huffman JE, Ahluwalia TS, Cadby G, Eklund N, Eriksson J, et al. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape. Nat Commun. 2016 ;7:13357.
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.
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.
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.
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.
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.

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