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Journal Article
Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MPreethi, Blackwell TW, Brody JA, Broome J, Chami N, Chen M-H, et al. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(10):1836-1851.
Hu Y, Stilp AM, McHugh CP, Rao S, Jain D, Zheng X, Lane J, de Bellefon SMéric, Raffield LM, Chen M-H, et al. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. Am J Hum Genet. 2021 ;108(5):874-893.
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.
Chen M-H, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, et al. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 2020 ;182(5):1198-1213.e14.
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 .
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.
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.
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.
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.
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.
Gieger C, Radhakrishnan A, Cvejic A, Tang W, Porcu E, Pistis G, Serbanovic-Canic J, Elling U, Goodall AH, Labrune Y, et al. New gene functions in megakaryopoiesis and platelet formation. Nature. 2011 ;480(7376):201-8.
Ganesh SK, Zakai NA, van Rooij FJA, Soranzo N, Smith AV, Nalls MA, Chen M-H, Köttgen A, Glazer NL, Dehghan A, et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet. 2009 ;41(11):1191-8.
Sabater-Lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson AD, Teumer A, Reiner AP, Folkersen L, Basu S, et al. Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease. Circulation. 2013 ;128(12):1310-24.
Porcu E, Medici M, Pistis G, Volpato CB, Wilson SG, Cappola AR, Bos SD, Deelen J, Heijer Mden, Freathy RM, et al. A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. PLoS Genet. 2013 ;9(2):e1003266.
Dehghan A, Dupuis J, Barbalic M, Bis JC, Eiriksdottir G, Lu C, Pellikka N, Wallaschofski H, Kettunen J, Henneman P, et al. Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation. 2011 ;123(7):731-8.
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens CM, Speliotes EK, Mägi R, et al. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet. 2010 ;42(11):949-60.
Stolk L, Perry JRB, Chasman DI, He C, Mangino M, Sulem P, Barbalic M, Broer L, Byrne EM, Ernst F, et al. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet. 2012 ;44(3):260-8.
Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert M-F, Raghavan S, Lipovich L, et al. Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun. 2015 ;6:5897.
Zillikens CM, Demissie S, Hsu Y-H, Yerges-Armstrong LM, Chou W-C, Stolk L, Livshits G, Broer L, Johnson T, Koller DL, et al. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass. Nat Commun. 2017 ;8(1):80.
Williams FMK, Carter AM, Hysi PG, Surdulescu G, Hodgkiss D, Soranzo N, Traylor M, Bevan S, Dichgans M, Rothwell PMW, et al. Ischemic stroke is associated with the ABO locus: the EuroCLOT study. Ann Neurol. 2013 ;73(1):16-31.
Wheeler E, Leong A, Liu C-T, Hivert M-F, Strawbridge RJ, Podmore C, Li M, Yao J, Sim X, Hong J, et al. Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis. PLoS Med. 2017 ;14(9):e1002383.
Medici M, Porcu E, Pistis G, Teumer A, Brown SJ, Jensen RA, Rawal R, Roef GL, Plantinga TS, Vermeulen SH, et al. Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease. PLoS Genet. 2014 ;10(2):e1004123.
Hoed Mden, Eijgelsheim M, Esko T, Brundel BJJM, Peal DS, Evans DM, Nolte IM, Segrè AV, Holm H, Handsaker RE, et al. Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet. 2013 ;45(6):621-31.
Allen HLango, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010 ;467(7317):832-8.
Berndt SI, Gustafsson S, Mägi R, Ganna A, Wheeler E, Feitosa MF, Justice AE, Monda KL, Croteau-Chonka DC, Day FR, et al. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nat Genet. 2013 ;45(5):501-12.

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