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Items: 1 to 20 of 305

1.

Probing the Virtual Proteome to Identify Novel Disease Biomarkers.

Mosley JD, Benson MD, Smith JG, Melander O, Ngo D, Shaffer CM, Ferguson JF, Herzig MS, McCarty CA, Chute CG, Jarvik GP, Gordon AS, Palmer MR, Crosslin DR, Larson EB, Carrell DS, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Kitchner TE, Linneman JG, Namjou B, Williams MS, Ritchie MD, Borthwick KM, Kiryluk K, Mentch FD, Sleiman PM, Karlson EW, Verma SS, Zhu Y, Vasan RS, Yang Q, Denny JC, Roden DM, Gerszten RE, Wang TJ.

Circulation. 2018 Nov 27;138(22):2469-2481. doi: 10.1161/CIRCULATIONAHA.118.036063.

PMID:
30571344
2.

The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.

Kullo IJ, Olson J, Fan X, Jose M, Safarova M, Radecki Breitkopf C, Winkler E, Kochan DC, Snipes S, Pacyna JE, Carney M, Chute CG, Gupta J, Jose S, Venner E, Murugan M, Jiang Y, Zordok M, Farwati M, Philogene M, Smith E, Shaibi GQ, Caraballo P, Freimuth R, Lindor NM, Sharp R, Thibodeau SN.

Mayo Clin Proc. 2018 Nov;93(11):1600-1610. doi: 10.1016/j.mayocp.2018.06.026.

PMID:
30392543
3.

Classification, Ontology, and Precision Medicine.

Haendel MA, Chute CG, Robinson PN.

N Engl J Med. 2018 Oct 11;379(15):1452-1462. doi: 10.1056/NEJMra1615014. Review. No abstract available.

PMID:
30304648
4.

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network, Crosslin DR.

Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8.

PMID:
30298529
5.

A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers.

Mosley JD, Feng Q, Wells QS, Van Driest SL, Shaffer CM, Edwards TL, Bastarache L, Wei WQ, Davis LK, McCarty CA, Thompson W, Chute CG, Jarvik GP, Gordon AS, Palmer MR, Crosslin DR, Larson EB, Carrell DS, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Namjou B, Williams MS, Ritchie MD, Borthwick KM, Verma SS, Karnes JH, Weiss ST, Wang TJ, Stein CM, Denny JC, Roden DM.

Nat Commun. 2018 Aug 30;9(1):3522. doi: 10.1038/s41467-018-05624-4.

6.

Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.

Aronson S, Babb L, Ames D, Gibbs RA, Venner E, Connelly JJ, Marsolo K, Weng C, Williams MS, Hartzler AL, Liang WH, Ralston JD, Devine EB, Murphy S, Chute CG, Caraballo PJ, Kullo IJ, Freimuth RR, Rasmussen LV, Wehbe FH, Peterson JF, Robinson JR, Wiley K, Overby Taylor C; eMERGE Network EHRI Working Group.

J Am Med Inform Assoc. 2018 Oct 1;25(10):1375-1381. doi: 10.1093/jamia/ocy051.

PMID:
29860405
7.

Value of Genetics-informed Drug Dosing Guidance in Pregnant Women: A Needs Assessment with Obstetric Healthcare Providers at Johns Hopkins.

Overby CL, Thompkins P, Lehmann H, Chute CG, Sheffield JS.

AMIA Annu Symp Proc. 2018 Apr 16;2017:1342-1351. eCollection 2017.

8.

The rendering of human phenotype and rare diseases in ICD-11.

Chute CG.

J Inherit Metab Dis. 2018 May;41(3):563-569. doi: 10.1007/s10545-018-0172-5. Epub 2018 Mar 29.

9.

Interface Terminologies, Reference Terminologies and Aggregation Terminologies: A Strategy for Better Integration.

Schulz S, Rodrigues JM, Rector A, Chute CG.

Stud Health Technol Inform. 2017;245:940-944.

PMID:
29295238
10.

The Pluripotent Rendering of Clinical Data for Precision Medicine.

Chute CG, Huff SM.

Stud Health Technol Inform. 2017;245:337-340.

PMID:
29295111
11.

Building a semantic web-based metadata repository for facilitating detailed clinical modeling in cancer genome studies.

Sharma DK, Solbrig HR, Tao C, Weng C, Chute CG, Jiang G.

J Biomed Semantics. 2017 Jun 5;8(1):19. doi: 10.1186/s13326-017-0130-4.

12.

Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes.

Mosley JD, Shoemaker MB, Wells QS, Darbar D, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Witte JS, Denny JC, Roden DM.

Circ Cardiovasc Genet. 2017 Apr;10(2). pii: e001482. doi: 10.1161/CIRCGENETICS.116.001482.

13.

Genome-wide study of resistant hypertension identified from electronic health records.

Dumitrescu L, Ritchie MD, Denny JC, El Rouby NM, McDonough CW, Bradford Y, Ramirez AH, Bielinski SJ, Basford MA, Chai HS, Peissig P, Carrell D, Pathak J, Rasmussen LV, Wang X, Pacheco JA, Kho AN, Hayes MG, Matsumoto M, Smith ME, Li R, Cooper-DeHoff RM, Kullo IJ, Chute CG, Chisholm RL, Jarvik GP, Larson EB, Carey D, McCarty CA, Williams MS, Roden DM, Bottinger E, Johnson JA, de Andrade M, Crawford DC.

PLoS One. 2017 Feb 21;12(2):e0171745. doi: 10.1371/journal.pone.0171745. eCollection 2017.

14.

Identification of unique venous thromboembolism-susceptibility variants in African-Americans.

Heit JA, Armasu SM, McCauley BM, Kullo IJ, Sicotte H, Pathak J, Chute CG, Gottesman O, Bottinger EP, Denny JC, Roden DM, Li R, Ritchie MD, de Andrade M.

Thromb Haemost. 2017 Apr 3;117(4):758-768. doi: 10.1160/TH16-08-0652. Epub 2017 Feb 16.

15.

Developing a modular architecture for creation of rule-based clinical diagnostic criteria.

Hong N, Pathak J, Chute CG, Jiang G.

BioData Min. 2016 Oct 21;9:33. eCollection 2016.

16.

Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data.

Mosley JD, van Driest SL, Wells QS, Shaffer CM, Edwards TL, Bastarache L, McCarty CA, Thompson W, Chute CG, Jarvik GP, Crosslin DR, Larson EB, Kullo IJ, Pacheco JA, Peissig PL, Brilliant MH, Linneman JG, Denny JC, Roden DM.

Circ Cardiovasc Genet. 2016 Dec;9(6):521-530. doi: 10.1161/CIRCGENETICS.116.001530. Epub 2016 Oct 25.

17.

Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.

Rasmussen LV, Overby CL, Connolly J, Chute CG, Denny JC, Freimuth R, Hartzler AL, Holm IA, Manzi S, Pathak J, Peissig PL, Smith M, Williams MS, Shirts BH, Stoffel EM, Tarczy-Hornoch P, Rohrer Vitek CR, Wolf WA, Starren J.

Appl Clin Inform. 2016 Sep 21;7(3):870-82. doi: 10.4338/ACI-2016-04-RA-0060.

18.

Health Concept and Knowledge Management: Twenty-five Years of Evolution.

Cornet R, Chute CG.

Yearb Med Inform. 2016 Aug 2;Suppl 1:S32-41. doi: 10.15265/IYS-2016-s037.

19.

Developing a data element repository to support EHR-driven phenotype algorithm authoring and execution.

Jiang G, Kiefer RC, Rasmussen LV, Solbrig HR, Mo H, Pacheco JA, Xu J, Montague E, Thompson WK, Denny JC, Chute CG, Pathak J.

J Biomed Inform. 2016 Aug;62:232-42. doi: 10.1016/j.jbi.2016.07.008. Epub 2016 Jul 5.

20.

SMART-on-FHIR implemented over i2b2.

Wagholikar KB, Mandel JC, Klann JG, Wattanasin N, Mendis M, Chute CG, Mandl KD, Murphy SN.

J Am Med Inform Assoc. 2017 Mar 1;24(2):398-402. doi: 10.1093/jamia/ocw079.

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