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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Amendola LM, et al. Among authors: guo x. Genome Res. 2015 Mar;25(3):305-15. doi: 10.1101/gr.183483.114. Epub 2015 Jan 30. Genome Res. 2015. PMID: 25637381 Free PMC article.
Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Norton N, et al. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53. doi: 10.1161/CIRCGENETICS.111.000062. Epub 2013 Feb 15. Circ Cardiovasc Genet. 2013. PMID: 23418287 Free PMC article.
Genetic analysis of adiponectin variation and its association with type 2 diabetes in African Americans.
Sandy An S, Palmer ND, Hanley AJ, Ziegler JT, Mark Brown W, Freedman BI, Register TC, Rotter JI, Guo X, Ida Chen YD, Wagenknecht LE, Langefeld CD, Bowden DW. Sandy An S, et al. Among authors: guo x. Obesity (Silver Spring). 2013 Dec;21(12):E721-9. doi: 10.1002/oby.20419. Epub 2013 Jun 11. Obesity (Silver Spring). 2013. PMID: 23512866 Free PMC article.
Genome-wide association study in a Chinese population with diabetic retinopathy.
Sheu WH, Kuo JZ, Lee IT, Hung YJ, Lee WJ, Tsai HY, Wang JS, Goodarzi MO, Klein R, Klein BE, Ipp E, Lin SY, Guo X, Hsieh CH, Taylor KD, Fu CP, Rotter JI, Chen YD. Sheu WH, et al. Among authors: guo x. Hum Mol Genet. 2013 Aug 1;22(15):3165-73. doi: 10.1093/hmg/ddt161. Epub 2013 Apr 4. Hum Mol Genet. 2013. PMID: 23562823 Free PMC article.
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.
Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, Green D, Peters U, Cushman M, Reiner AP; NHLBI Exome Sequencing Project. Johnsen JM, et al. Blood. 2013 Jul 25;122(4):590-7. doi: 10.1182/blood-2013-02-485094. Epub 2013 May 20. Blood. 2013. PMID: 23690449 Free PMC article.
Fine-scale patterns of population stratification confound rare variant association tests.
O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E; NHLBIGO Exome Sequencing Project; ESP Population Genetics, Statistical Analysis Working Group; Leal SM, Akey JM. O'Connor TD, et al. PLoS One. 2013 Jul 4;8(7):e65834. doi: 10.1371/journal.pone.0065834. Print 2013. PLoS One. 2013. PMID: 23861739 Free PMC article.
Genetics of coronary artery calcification among African Americans, a meta-analysis.
Wojczynski MK, Li M, Bielak LF, Kerr KF, Reiner AP, Wong ND, Yanek LR, Qu L, White CC, Lange LA, Ferguson JF, He J, Young T, Mosley TH, Smith JA, Kral BG, Guo X, Wong Q, Ganesh SK, Heckbert SR, Griswold ME, O'Leary DH, Budoff M, Carr JJ, Taylor HA Jr, Bluemke DA, Demissie S, Hwang SJ, Paltoo DN, Polak JF, Psaty BM, Becker DM, Province MA, Post WS, O'Donnell CJ, Wilson JG, Harris TB, Kavousi M, Cupples LA, Rotter JI, Fornage M, Becker LC, Peyser PA, Borecki IB, Reilly MP. Wojczynski MK, et al. Among authors: guo x. BMC Med Genet. 2013 Jul 19;14:75. doi: 10.1186/1471-2350-14-75. BMC Med Genet. 2013. PMID: 23870195 Free PMC article.
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Guo DC, et al. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910461 Free PMC article.
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