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Results: 1 to 20 of 50

1.

eMERGEing progress in genomics-the first seven years.

Crawford DC, Crosslin DR, Tromp G, Kullo IJ, Kuivaniemi H, Hayes MG, Denny JC, Bush WS, Haines JL, Roden DM, McCarty CA, Jarvik GP, Ritchie MD.

Front Genet. 2014 Jun 17;5:184. doi: 10.3389/fgene.2014.00184. eCollection 2014. Review.

PMID:
24987407
[PubMed]
Free PMC Article
2.

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems.

Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, Pathak J, Perry CL, Peterson JF, Prows CA, Ralston J, Rasmussen LV, Ritchie MD, Sadhasivam S, Scott SA, Smith M, Vega A, Vinks AA, Volpi S, Wolf WA, Bottinger E, Chisholm RL, Chute CG, Haines JL, Harley JB, Keating B, Holm IA, Kullo IJ, Jarvik GP, Larson EB, Manolio T, McCarty CA, Nickerson DA, Scherer SE, Williams MS, Roden DM, Denny JC.

Clin Pharmacol Ther. 2014 Jun 24. doi: 10.1038/clpt.2014.137. [Epub ahead of print]

PMID:
24960519
[PubMed - as supplied by publisher]
3.

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Crosby J, Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y, Tang ZZ, Zhang H, Hindy G, Masca N, Stirrups K, Kanoni S, Do R, Jun G, Hu Y, Kang HM, Xue C, Goel A, Farrall M, Duga S, Merlini PA, Asselta R, Girelli D, Olivieri O, Martinelli N, Yin W, Reilly D, Speliotes E, Fox CS, Hveem K, Holmen OL, Nikpay M, Farlow DN, Assimes TL, Franceschini N, Robinson J, North KE, Martin LW, DePristo M, Gupta N, Escher SA, Jansson JH, Van Zuydam N, Palmer CN, Wareham N, Koch W, Meitinger T, Peters A, Lieb W, Erbel R, Konig IR, Kruppa J, Degenhardt F, Gottesman O, Bottinger EP, O'Donnell CJ, Psaty BM, Ballantyne CM, Abecasis G, Ordovas JM, Melander O, Watkins H, Orho-Melander M, Ardissino D, Loos RJ, McPherson R, Willer CJ, Erdmann J, Hall AS, Samani NJ, Deloukas P, Schunkert H, Wilson JG, Kooperberg C, Rich SS, Tracy RP, Lin DY, Altshuler D, Gabriel S, Nickerson DA, Jarvik GP, Cupples LA, Reiner AP, Boerwinkle E, Kathiresan S.

N Engl J Med. 2014 Jul 3;371(1):22-31. doi: 10.1056/NEJMoa1307095. Epub 2014 Jun 18.

PMID:
24941081
[PubMed - indexed for MEDLINE]
4.

Patient genotypes impact survival after surgery for isolated congenital heart disease.

Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Gaynor JW, Jarvik GP.

Ann Thorac Surg. 2014 Jul;98(1):104-10; discussion 110-1. doi: 10.1016/j.athoracsur.2014.03.017. Epub 2014 May 6.

PMID:
24811984
[PubMed - in process]
5.

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; on behalf of the NHLBI Exome Sequencing Project.

J Lipid Res. 2014 Apr 7;55(6):1173-1178. [Epub ahead of print]

PMID:
24711634
[PubMed - as supplied by publisher]
Free Article
6.

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H.

Front Genet. 2014 Mar 18;5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014. Review.

PMID:
24672537
[PubMed]
Free PMC Article
7.

Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ; NHLBI Grand Opportunity Exome Sequencing Project.

Am J Hum Genet. 2014 Feb 6;94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010.

PMID:
24507775
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

Mosley JD, Van Driest SL, Larkin EK, Weeke PE, Witte JS, Wells QS, Karnes JH, Guo Y, Bastarache L, Olson LM, McCarty CA, Pacheco JA, Jarvik GP, Carrell DS, Larson EB, Crosslin DR, Kullo IJ, Tromp G, Kuivaniemi H, Carey DJ, Ritchie MD, Denny JC, Roden DM.

PLoS One. 2013 Dec 12;8(12):e81503. doi: 10.1371/journal.pone.0081503. eCollection 2013.

PMID:
24349080
[PubMed - in process]
Free PMC Article
9.

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM.

Nat Biotechnol. 2013 Dec;31(12):1102-10.

PMID:
24270849
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia.

Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA; NHLBI GO Exome Sequencing Project, Wijsman EM, Jarvik GP.

Am J Hum Genet. 2013 Dec 5;93(6):1035-45. doi: 10.1016/j.ajhg.2013.10.019. Epub 2013 Nov 21.

PMID:
24268658
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

Shameer K, Denny JC, Ding K, Jouni H, Crosslin DR, de Andrade M, Chute CG, Peissig P, Pacheco JA, Li R, Bastarache L, Kho AN, Ritchie MD, Masys DR, Chisholm RL, Larson EB, McCarty CA, Roden DM, Jarvik GP, Kullo IJ.

Hum Genet. 2014 Jan;133(1):95-109. doi: 10.1007/s00439-013-1355-7. Epub 2013 Sep 12.

PMID:
24026423
[PubMed - indexed for MEDLINE]
12.

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records.

McDavid A, Crane PK, Newton KM, Crosslin DR, McCormick W, Weston N, Ehrlich K, Hart E, Harrison R, Kukull WA, Rottscheit C, Peissig P, Stefanski E, McCarty CA, Zuvich RL, Ritchie MD, Haines JL, Denny JC, Schellenberg GD, de Andrade M, Kullo I, Li R, Mirel D, Crenshaw A, Bowen JD, Li G, Tsuang D, McCurry S, Teri L, Larson EB, Jarvik GP, Carlson CS.

PLoS One. 2013 Jun 10;8(6):e63481. doi: 10.1371/journal.pone.0063481. Print 2013.

PMID:
23762230
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future.

Gottesman O, Kuivaniemi H, Tromp G, Faucett WA, Li R, Manolio TA, Sanderson SC, Kannry J, Zinberg R, Basford MA, Brilliant M, Carey DJ, Chisholm RL, Chute CG, Connolly JJ, Crosslin D, Denny JC, Gallego CJ, Haines JL, Hakonarson H, Harley J, Jarvik GP, Kohane I, Kullo IJ, Larson EB, McCarty C, Ritchie MD, Roden DM, Smith ME, Böttinger EP, Williams MS; eMERGE Network.

Genet Med. 2013 Oct;15(10):761-71. doi: 10.1038/gim.2013.72. Epub 2013 Jun 6. Review.

PMID:
23743551
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Generalization of variants identified by genome-wide association studies for electrocardiographic traits in african americans.

Jeff JM, Ritchie MD, Denny JC, Kho AN, Ramirez AH, Crosslin D, Armstrong L, Basford MA, Wolf WA, Pacheco JA, Chisholm RL, Roden DM, Hayes MG, Crawford DC.

Ann Hum Genet. 2013 Jul;77(4):321-32. doi: 10.1111/ahg.12023. Epub 2013 Mar 28.

PMID:
23534349
[PubMed - in process]
Free PMC Article
15.

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.

PLoS One. 2013;8(3):e59823. doi: 10.1371/journal.pone.0059823. Epub 2013 Mar 22.

PMID:
23533652
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A randomized trial of population-based clinical decision support to manage health and resource use for Medicaid beneficiaries.

Lobach DF, Kawamoto K, Anstrom KJ, Silvey GM, Willis JM, Johnson FS, Edwards R, Simo J, Phillips P, Crosslin DR, Eisenstein EL.

J Med Syst. 2013 Feb;37(1):9922. doi: 10.1007/s10916-012-9922-3. Epub 2013 Jan 13.

PMID:
23321963
[PubMed - in process]
17.

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.

Hum Mol Genet. 2013 May 15;22(10):2119-27. doi: 10.1093/hmg/ddt010. Epub 2013 Jan 12.

PMID:
23314186
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Genome-wide association scan of dental caries in the permanent dentition.

Wang X, Shaffer JR, Zeng Z, Begum F, Vieira AR, Noel J, Anjomshoaa I, Cuenco KT, Lee MK, Beck J, Boerwinkle E, Cornelis MC, Hu FB, Crosslin DR, Laurie CC, Nelson SC, Doheny KF, Pugh EW, Polk DE, Weyant RJ, Crout R, McNeil DW, Weeks DE, Feingold E, Marazita ML.

BMC Oral Health. 2012 Dec 21;12:57. doi: 10.1186/1472-6831-12-57.

PMID:
23259602
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL.

Kim DS, Burt AA, Crosslin DR, Robertson PD, Ranchalis JE, Boyko EJ, Nickerson DA, Furlong CE, Jarvik GP.

J Lipid Res. 2013 Feb;54(2):552-60. doi: 10.1194/jlr.P033266. Epub 2012 Nov 15.

PMID:
23160181
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.

Rasmussen-Torvik LJ, Pacheco JA, Wilke RA, Thompson WK, Ritchie MD, Kho AN, Muthalagu A, Hayes MG, Armstrong LL, Scheftner DA, Wilkins JT, Zuvich RL, Crosslin D, Roden DM, Denny JC, Jarvik GP, Carlson CS, Kullo IJ, Bielinski SJ, McCarty CA, Li R, Manolio TA, Crawford DC, Chisholm RL.

Clin Transl Sci. 2012 Oct;5(5):394-9. doi: 10.1111/j.1752-8062.2012.00446.x. Epub 2012 Aug 23.

PMID:
23067351
[PubMed - indexed for MEDLINE]
Free PMC Article

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