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141 results

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Page 1
Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project.
Kim DS, Crosslin DR, Auer PL, Suzuki SM, Marsillach J, Burt AA, Gordon AS, Meschia JF, Nalls MA, Worrall BB, Longstreth WT Jr, Gottesman RF, Furlong CE, Peters U, Rich SS, Nickerson DA, Jarvik GP; NHLBI Exome Sequencing Project. Kim DS, et al. Among authors: crosslin dr. J Lipid Res. 2014 Jun;55(6):1173-8. doi: 10.1194/jlr.P049247. Epub 2014 Apr 7. J Lipid Res. 2014. PMID: 24711634 Free PMC article. Clinical Trial.
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate.
Kullo IJ, Ding K, Shameer K, McCarty CA, Jarvik GP, Denny JC, Ritchie MD, Ye Z, Crosslin DR, Chisholm RL, Manolio TA, Chute CG. Kullo IJ, et al. Among authors: crosslin dr. Am J Hum Genet. 2011 Jul 15;89(1):131-8. doi: 10.1016/j.ajhg.2011.05.019. Epub 2011 Jun 23. Am J Hum Genet. 2011. PMID: 21700265 Free PMC article.
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
Crosslin DR, McDavid A, Weston N, Nelson SC, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, Kho A, Hayes MG, Pretel S, Saip A, Ritchie MD, Crawford DC, Crane PK, Newton K, Li R, Mirel DB, Crenshaw A, Larson EB, Carlson CS, Jarvik GP; Electronic Medical Records and Genomics (eMERGE) Network. Crosslin DR, et al. Hum Genet. 2012 Apr;131(4):639-52. doi: 10.1007/s00439-011-1103-9. Epub 2011 Oct 30. Hum Genet. 2012. PMID: 22037903 Free PMC article.
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO; Gibson RL, Bamshad MJ. Emond MJ, et al. Nat Genet. 2012 Jul 8;44(8):886-9. doi: 10.1038/ng.2344. Nat Genet. 2012. PMID: 22772370 Free PMC article.
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.
Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project; Jondeau G, Milewicz DM. Boileau C, et al. Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348. Nat Genet. 2012. PMID: 22772371 Free PMC article.
Genetic variation associated with circulating monocyte count in the eMERGE Network.
Crosslin DR, McDavid A, Weston N, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, Kho A, Hayes MG, Ritchie MD, Saip A, Crawford DC, Crane PK, Newton K, Carrell DS, Gallego CJ, Nalls MA, Li R, Mirel DB, Crenshaw A, Couper DJ, Tanaka T, van Rooij FJ, Chen MH, Smith AV, Zakai NA, Yango Q, Garcia M, Liu Y, Lumley T, Folsom AR, Reiner AP, Felix JF, Dehghan A, Wilson JG, Bis JC, Fox CS, Glazer NL, Cupples LA, Coresh J, Eiriksdottir G, Gudnason V, Bandinelli S, Frayling TM, Chakravarti A, van Duijn CM, Melzer D, Levy D, Boerwinkle E, Singleton AB, Hernandez DG, Longo DL, Witteman JC, Psaty BM, Ferrucci L, Harris TB, O'Donnell CJ, Ganesh SK; CHARGE Hematology Working Group; Larson EB, Carlson CS, Jarvik GP; electronic Medical Records and Genomics (eMERGE) Network. Crosslin DR, et al. Hum Mol Genet. 2013 May 15;22(10):2119-27. doi: 10.1093/hmg/ddt010. Epub 2013 Jan 12. Hum Mol Genet. 2013. PMID: 23314186 Free PMC article. Clinical Trial.
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.
Confirmation of the reported association of clonal chromosomal mosaicism with an increased risk of incident hematologic cancer.
Schick UM, McDavid A, Crane PK, Weston N, Ehrlich K, Newton KM, Wallace R, Bookman E, Harrison T, Aragaki A, Crosslin DR, Wang SS, Reiner AP, Jackson RD, Peters U, Larson EB, Jarvik GP, Carlson CS. Schick UM, et al. Among authors: crosslin dr. PLoS One. 2013;8(3):e59823. doi: 10.1371/journal.pone.0059823. Epub 2013 Mar 22. PLoS One. 2013. PMID: 23533652 Free PMC article.
141 results