Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 57

1.

Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol).

Bielinski SJ, St Sauver JL, Olson JE, Larson NB, Black JL, Scherer SE, Bernard ME, Boerwinkle E, Borah BJ, Caraballo PJ, Curry TB, Doddapaneni H, Formea CM, Freimuth RR, Gibbs RA, Giri J, Hathcock MA, Hu J, Jacobson DJ, Jones LA, Kalla S, Koep TH, Korchina V, Kovar CL, Lee S, Liu H, Matey ET, McGree ME, McAllister TM, Moyer AM, Muzny DM, Nicholson WT, Oyen LJ, Qin X, Raj R, Roger VL, Rohrer Vitek CR, Ross JL, Sharp RR, Takahashi PY, Venner E, Walker K, Wang L, Wang Q, Wright JA, Wu TJ, Wang L, Weinshilboum RM.

Int J Epidemiol. 2019 Aug 4. pii: dyz123. doi: 10.1093/ije/dyz123. [Epub ahead of print] No abstract available.

PMID:
31378813
2.

A Decade of Translational Bioinformatics: A Retrospective Analysis of "Year-in-Review" Presentations.

Romano JD, Bernauer M, McGrath SP, Nagar SD, Freimuth RR.

AMIA Jt Summits Transl Sci Proc. 2019 May 6;2019:335-344. eCollection 2019.

3.

ClinGen advancing genomic data-sharing standards as a GA4GH driver project.

Dolman L, Page A, Babb L, Freimuth RR, Arachchi H, Bizon C, Brush M, Fiume M, Haendel M, Hansen DP, Milosavljevic A, Patel RY, Pawliczek P, Yates AD, Rehm HL.

Hum Mutat. 2018 Nov;39(11):1686-1689. doi: 10.1002/humu.23625.

4.

ClinGen Allele Registry links information about genetic variants.

Pawliczek P, Patel RY, Ashmore LR, Jackson AR, Bizon C, Nelson T, Powell B, Freimuth RR, Strande N, Shah N, Paithankar S, Wright MW, Dwight S, Zhen J, Landrum M, McGarvey P, Babb L, Plon SE, Milosavljevic A; Clinical Genome (ClinGen) Resource.

Hum Mutat. 2018 Nov;39(11):1690-1701. doi: 10.1002/humu.23637.

5.

Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons.

Crump JK, Del Fiol G, Williams MS, Freimuth RR.

AMIA Jt Summits Transl Sci Proc. 2018 May 18;2017:330-339. eCollection 2018.

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.

7.

Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.

Rasmussen-Torvik LJ, Almoguera B, Doheny KF, Freimuth RR, Gordon AS, Hakonarson H, Hawkins JB, Husami A, Ivacic LC, Kullo IJ, Linderman MD, Manolio TA, Obeng AO, Pellegrino R, Prows CA, Ritchie MD, Smith ME, Stallings SC, Wolf WA, Zhang K, Scott SA.

J Mol Diagn. 2017 Jul;19(4):561-566. doi: 10.1016/j.jmoldx.2017.04.002. Epub 2017 May 11.

8.

Knowledge as a Service at the Point of Care.

Shellum JL, Freimuth RR, Peters SG, Nishimura RA, Chaudhry R, Demuth SJ, Knopp AL, Miksch TA, Milliner DS.

AMIA Annu Symp Proc. 2017 Feb 10;2016:1139-1148. eCollection 2016.

9.

Implementing Genomic Clinical Decision Support for Drug-Based Precision Medicine.

Freimuth RR, Formea CM, Hoffman JM, Matey E, Peterson JF, Boyce RD.

CPT Pharmacometrics Syst Pharmacol. 2017 Mar;6(3):153-155. doi: 10.1002/psp4.12173. Review.

10.

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems.

Luzum JA, Pakyz RE, Elsey AR, Haidar CE, Peterson JF, Whirl-Carrillo M, Handelman SK, Palmer K, Pulley JM, Beller M, Schildcrout JS, Field JR, Weitzel KW, Cooper-DeHoff RM, Cavallari LH, O'Donnell PH, Altman RB, Pereira N, Ratain MJ, Roden DM, Embi PJ, Sadee W, Klein TE, Johnson JA, Relling MV, Wang L, Weinshilboum RM, Shuldiner AR, Freimuth RR; Pharmacogenomics Research Network Translational Pharmacogenetics Program.

Clin Pharmacol Ther. 2017 Sep;102(3):502-510. doi: 10.1002/cpt.630. Epub 2017 Jun 9.

11.

Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Caudle KE, Dunnenberger HM, Freimuth RR, Peterson JF, Burlison JD, Whirl-Carrillo M, Scott SA, Rehm HL, Williams MS, Klein TE, Relling MV, Hoffman JM.

Genet Med. 2017 Feb;19(2):215-223. doi: 10.1038/gim.2016.87. Epub 2016 Jul 21.

12.

An informatics research agenda to support precision medicine: seven key areas.

Tenenbaum JD, Avillach P, Benham-Hutchins M, Breitenstein MK, Crowgey EL, Hoffman MA, Jiang X, Madhavan S, Mattison JE, Nagarajan R, Ray B, Shin D, Visweswaran S, Zhao Z, Freimuth RR.

J Am Med Inform Assoc. 2016 Jul;23(4):791-5. doi: 10.1093/jamia/ocv213. Epub 2016 Apr 23.

13.

Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).

Hoffman JM, Dunnenberger HM, Kevin Hicks J, Caudle KE, Whirl Carrillo M, Freimuth RR, Williams MS, Klein TE, Peterson JF.

J Am Med Inform Assoc. 2016 Jul;23(4):796-801. doi: 10.1093/jamia/ocw027. Epub 2016 Mar 28.

14.

Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting.

Wiley LK, Tarczy-Hornoch P, Denny JC, Freimuth RR, Overby CL, Shah N, Martin RD, Sarkar IN.

J Am Med Inform Assoc. 2016 Mar;23(2):413-9. doi: 10.1093/jamia/ocv111. Epub 2016 Feb 5.

15.

The genomic CDS sandbox: An assessment among domain experts.

Aziz A, Kawamoto K, Eilbeck K, Williams MS, Freimuth RR, Hoffman MA, Rasmussen LV, Overby CL, Shirts BH, Hoffman JM, Welch BM.

J Biomed Inform. 2016 Apr;60:84-94. doi: 10.1016/j.jbi.2015.12.019. Epub 2016 Jan 15.

16.

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

Kalman LV, Agúndez J, Appell ML, Black JL, Bell GC, Boukouvala S, Bruckner C, Bruford E, Caudle K, Coulthard SA, Daly AK, Del Tredici A, den Dunnen JT, Drozda K, Everts RE, Flockhart D, Freimuth RR, Gaedigk A, Hachad H, Hartshorne T, Ingelman-Sundberg M, Klein TE, Lauschke VM, Maglott DR, McLeod HL, McMillin GA, Meyer UA, Müller DJ, Nickerson DA, Oetting WS, Pacanowski M, Pratt VM, Relling MV, Roberts A, Rubinstein WS, Sangkuhl K, Schwab M, Scott SA, Sim SC, Thirumaran RK, Toji LH, Tyndale RF, van Schaik R, Whirl-Carrillo M, Yeo K, Zanger UM.

Clin Pharmacol Ther. 2016 Feb;99(2):172-85. doi: 10.1002/cpt.280. Epub 2015 Nov 20. Review.

17.

A conceptual model for translating omic data into clinical action.

Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Denny J, Freimuth RR, Hartzler A, Kannry J, Kohane IS, Kullo IJ, Lin S, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden D, Tromp G, Williams MS, Starren J.

J Pathol Inform. 2015 Aug 31;6:46. doi: 10.4103/2153-3539.163985. eCollection 2015.

18.

Analyzing the potential for incorrect haplotype calls with different pharmacogenomic assays in different populations: a simulation based on 1000 Genomes data.

Samwald M, Blagec K, Hofer S, Freimuth RR.

Pharmacogenomics. 2015;16(15):1713-21. doi: 10.2217/pgs.15.108. Epub 2015 Sep 30.

19.

CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.

Shirts BH, Salama JS, Aronson SJ, Chung WK, Gray SW, Hindorff LA, Jarvik GP, Plon SE, Stoffel EM, Tarczy-Hornoch PZ, Van Allen EM, Weck KE, Chute CG, Freimuth RR, Grundmeier RW, Hartzler AL, Li R, Peissig PL, Peterson JF, Rasmussen LV, Starren JB, Williams MS, Overby CL.

J Am Med Inform Assoc. 2015 Nov;22(6):1231-42. doi: 10.1093/jamia/ocv065. Epub 2015 Jul 3.

20.

Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.

Samwald M, Miñarro Giménez JA, Boyce RD, Freimuth RR, Adlassnig KP, Dumontier M.

BMC Med Inform Decis Mak. 2015 Feb 22;15:12. doi: 10.1186/s12911-015-0130-1.

21.

Creating Shareable Clinical Decision Support Rules for a Pharmacogenomics Clinical Guideline Using Structured Knowledge Representation.

Linan MK, Sottara D, Freimuth RR.

AMIA Annu Symp Proc. 2015 Nov 5;2015:1985-94. eCollection 2015.

22.

Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 update.

Martin MA, Hoffman JM, Freimuth RR, Klein TE, Dong BJ, Pirmohamed M, Hicks JK, Wilkinson MR, Haas DW, Kroetz DL; Clinical Pharmacogenetics Implementation Consortium.

Clin Pharmacol Ther. 2014 May;95(5):499-500. doi: 10.1038/clpt.2014.38. Epub 2014 Feb 21.

23.

A Weighted Random Forests Approach to Improve Predictive Performance.

Winham SJ, Freimuth RR, Biernacka JM.

Stat Anal Data Min. 2013 Dec 1;6(6):496-505.

24.

Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process.

Caudle KE, Klein TE, Hoffman JM, Muller DJ, Whirl-Carrillo M, Gong L, McDonagh EM, Sangkuhl K, Thorn CF, Schwab M, Agundez JA, Freimuth RR, Huser V, Lee MT, Iwuchukwu OF, Crews KR, Scott SA, Wadelius M, Swen JJ, Tyndale RF, Stein CM, Roden D, Relling MV, Williams MS, Johnson SG.

Curr Drug Metab. 2014 Feb;15(2):209-17.

25.

Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol.

Bielinski SJ, Olson JE, Pathak J, Weinshilboum RM, Wang L, Lyke KJ, Ryu E, Targonski PV, Van Norstrand MD, Hathcock MA, Takahashi PY, McCormick JB, Johnson KJ, Maschke KJ, Rohrer Vitek CR, Ellingson MS, Wieben ED, Farrugia G, Morrisette JA, Kruckeberg KJ, Bruflat JK, Peterson LM, Blommel JH, Skierka JM, Ferber MJ, Black JL, Baudhuin LM, Klee EW, Ross JL, Veldhuizen TL, Schultz CG, Caraballo PJ, Freimuth RR, Chute CG, Kullo IJ.

Mayo Clin Proc. 2014 Jan;89(1):25-33. doi: 10.1016/j.mayocp.2013.10.021.

26.

Simplifying complex clinical element models to encourage adoption.

Freimuth RR, Zhu Q, Pathak J, Chute CG.

AMIA Jt Summits Transl Sci Proc. 2014 Apr 7;2014:26-31. eCollection 2014.

27.

A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project.

Overby CL, Rasmussen LV, Hartzler A, Connolly JJ, Peterson JF, Hedberg RE, Freimuth RR, Shirts BH, Denny JC, Larson EB, Chute CG, Jarvik GP, Ralston JD, Shuldiner AR, Starren J, Kullo IJ, Tarczy-Hornoch P, Williams MS.

AMIA Annu Symp Proc. 2014 Nov 14;2014:944-53. eCollection 2014.

28.

Evaluation of RxNorm for Medication Clinical Decision Support.

Freimuth RR, Wix K, Zhu Q, Siska M, Chute CG.

AMIA Annu Symp Proc. 2014 Nov 14;2014:554-63. eCollection 2014.

29.

PharmGKB Drug Data Normalization with NDF-RT.

Zhu Q, Freimuth RR, Pathak J, Chute CG.

AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:180. eCollection 2013.

30.

Toward semantic modeling of pharmacogenomic knowledge for clinical and translational decision support.

Boyce RD, Freimuth RR, Romagnoli KM, Pummer T, Hochheiser H, Empey PE.

AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:28-32. eCollection 2013.

31.

Using clinical element models for pharmacogenomic study data standardization.

Zhu Q, Freimuth RR, Pathak J, Chute CG.

AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:292-6. eCollection 2013.

32.

Mining Genotype-Phenotype Associations from Public Knowledge Sources via Semantic Web Querying.

Kiefer RC, Freimuth RR, Chute CG, Pathak J.

AMIA Jt Summits Transl Sci Proc. 2013 Mar 18;2013:118-22. eCollection 2013.

33.

Making data on essential pharmacogenes available for every patient everywhere: the Medicine Safety Code initiative.

Samwald M, Freimuth RR.

Pharmacogenomics. 2013 Oct;14(13):1529-31. doi: 10.2217/pgs.13.121. No abstract available.

34.

Development and use of active clinical decision support for preemptive pharmacogenomics.

Bell GC, Crews KR, Wilkinson MR, Haidar CE, Hicks JK, Baker DK, Kornegay NM, Yang W, Cross SJ, Howard SC, Freimuth RR, Evans WE, Broeckel U, Relling MV, Hoffman JM.

J Am Med Inform Assoc. 2014 Feb;21(e1):e93-9. doi: 10.1136/amiajnl-2013-001993. Epub 2013 Aug 26.

35.

Disambiguation of PharmGKB drug-disease relations with NDF-RT and SPL.

Zhu Q, Freimuth RR, Pathak J, Durski MJ, Chute CG.

J Biomed Inform. 2013 Aug;46(4):690-6. doi: 10.1016/j.jbi.2013.05.005. Epub 2013 May 29.

36.

The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation.

Shuldiner AR, Relling MV, Peterson JF, Hicks JK, Freimuth RR, Sadee W, Pereira NL, Roden DM, Johnson JA, Klein TE; Pharmacogenomics Research Network Translational Pharmacogenetics Program Group, Shuldiner AR, Vesely M, Robinson SW, Ambulos N Jr, Stass SA, Kelemen MD, Brown LA, Pollin TI, Beitelshees AL, Zhao RY, Pakyz RE, Palmer K, Alestock T, O'Neill C, Maloney K, Branham A, Sewell D, Relling MV, Crews K, Hoffman J, Cross S, Haidar C, Baker D, Hicks JK, Bell G, Greeson F, Gaur A, Reiss U, Huettel A, Cheng C, Gajjar A, Pappo A, Howard S, Hudson M, Pui CH, Jeha S, Evans WE, Broeckel U, Altman RB, Gong L, Whirl-Carrillo M, Klein TE, Sadee W, Manickam K, Sweet KM, Embi PJ, Roden D, Peterson J, Denny J, Schildcrout J, Bowton E, Pulley J, Beller M, Mitchell J, Danciu I, Price L, Pereira NL, Weinshilboum R, Wang L, Johnson JA, Nelson D, Clare-Salzler M, Elsey A, Burkley B, Langaee T, Liu F, Nessl D, Dong HJ, Lesko L, Freimuth RR, Chute CG.

Clin Pharmacol Ther. 2013 Aug;94(2):207-10. doi: 10.1038/clpt.2013.59. Epub 2013 Mar 19. No abstract available.

37.

A semantic-web oriented representation of the clinical element model for secondary use of electronic health records data.

Tao C, Jiang G, Oniki TA, Freimuth RR, Zhu Q, Sharma D, Pathak J, Huff SM, Chute CG.

J Am Med Inform Assoc. 2013 May 1;20(3):554-62. doi: 10.1136/amiajnl-2012-001326. Epub 2012 Dec 25.

38.

Harmonization and semantic annotation of data dictionaries from the Pharmacogenomics Research Network: a case study.

Zhu Q, Freimuth RR, Lian Z, Bauer S, Pathak J, Tao C, Durski MJ, Chute CG.

J Biomed Inform. 2013 Apr;46(2):286-93. doi: 10.1016/j.jbi.2012.11.004. Epub 2012 Nov 29.

39.

SNP interaction detection with Random Forests in high-dimensional genetic data.

Winham SJ, Colby CL, Freimuth RR, Wang X, de Andrade M, Huebner M, Biernacka JM.

BMC Bioinformatics. 2012 Jul 15;13:164. doi: 10.1186/1471-2105-13-164.

40.

Life sciences domain analysis model.

Freimuth RR, Freund ET, Schick L, Sharma MK, Stafford GA, Suzek BE, Hernandez J, Hipp J, Kelley JM, Rokicki K, Pan S, Buckler A, Stokes TH, Fernandez A, Fore I, Buetow KH, Klemm JD.

J Am Med Inform Assoc. 2012 Nov-Dec;19(6):1095-102. doi: 10.1136/amiajnl-2011-000763. Epub 2012 Jun 28.

41.

Semantically enabling pharmacogenomic data for the realization of personalized medicine.

Samwald M, Coulet A, Huerga I, Powers RL, Luciano JS, Freimuth RR, Whipple F, Pichler E, Prud'hommeaux E, Dumontier M, Marshall MS.

Pharmacogenomics. 2012 Jan;13(2):201-12. doi: 10.2217/pgs.11.179. Review. Erratum in: Pharmacogenomics. 2012 Apr;13(5):628.

42.

Integrating VA's NDF-RT drug terminology with PharmGKB: preliminary results.

Pathak J, Weiss LC, Durski MJ, Zhu Q, Freimuth RR, Chute CG.

Pac Symp Biocomput. 2012:400-9.

43.

caBIG compatibility review system: software to support the evaluation of applications using defined interoperability criteria.

Freimuth RR, Schauer MW, Lodha P, Govindrao P, Nagarajan R, Chute CG.

AMIA Annu Symp Proc. 2008 Nov 6:197-201.

44.

DNA methylotype analysis in colorectal cancer.

Yu J, Freimuth RR, Culverhouse R, Marsh S, Watson MA, McLeod HL.

Oncol Rep. 2008 Oct;20(4):921-7.

45.

Analysis of peripheral nerve expression profiles identifies a novel myelin glycoprotein, MP11.

Ryu EJ, Yang M, Gustin JA, Chang LW, Freimuth RR, Nagarajan R, Milbrandt J.

J Neurosci. 2008 Jul 23;28(30):7563-73. doi: 10.1523/JNEUROSCI.1659-08.2008.

46.

DNA repair pathway profiling and microsatellite instability in colorectal cancer.

Yu J, Mallon MA, Zhang W, Freimuth RR, Marsh S, Watson MA, Goodfellow PJ, McLeod HL.

Clin Cancer Res. 2006 Sep 1;12(17):5104-11.

47.

Polymorphism discovery in 51 chemotherapy pathway genes.

Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY.

Hum Mol Genet. 2005 Dec 1;14(23):3595-603. Epub 2005 Oct 20.

PMID:
16239245
48.

PolyMAPr: programs for polymorphism database mining, annotation, and functional analysis.

Freimuth RR, Stormo GD, McLeod HL.

Hum Mutat. 2005 Feb;25(2):110-7.

PMID:
15643605
49.

Interethnic variability of ERCC2 polymorphisms.

King CR, Yu J, Freimuth RR, McLeod HL, Marsh S.

Pharmacogenomics J. 2005;5(1):54-9.

PMID:
15534626
50.

Pharmacogenomic assessment of carboxylesterases 1 and 2.

Marsh S, Xiao M, Yu J, Ahluwalia R, Minton M, Freimuth RR, Kwok PY, McLeod HL.

Genomics. 2004 Oct;84(4):661-8.

PMID:
15475243

Supplemental Content

Loading ...
Support Center