Publications

  1. Martin MA, Hoffman JM, Freimuth RR, Klein TE, Dong BJ, Pirmohamed M, Hicks JK, Wilkinson MR, Haas DW, Kroetz DL, Clinical Pharmacogenetics Implementation Consortium. Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 update. Clin Pharmacol Ther. 2014 May; 95(5):499-500. Epub 2014 Feb 21
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  2. 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. Development and use of active clinical decision support for preemptive pharmacogenomics. J Am Med Inform Assoc. 2014 Feb; 21(e1):e93-9. Epub 2013 Aug 26.
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  3. Caudle KE, Klein TE, Hoffman JM, Muller DJ, Whirl-Carrillo M, Gong L, McDonagh EM, Sangkuhl K, Thorn CF, Schwab M, Agundez JAG, Freimuth RR, Huser V, Lee MTM, Iwuchukwu OF, Crews KR, Scott SA, Wadelius M, Swen JJ, Tyndale RF, Stein CM, Roden D, Relling Incorporation of pharmacogenomics into routine clinical practice: the clinical pharmacogenetics implementation consortium (cpic) guideline development process. Current Drug Metabolism. 2014 Feb; 15(2):209-17.
  4. 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 Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol. Mayo Clin Proc. 2014 Jan; 89(1):25-33.
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  5. 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. Development and use of active clinical decision support for preemptive pharmacogenomics. J Am Med Inform Assoc. 2014; 21(E2):e93-9.
  6. Winham SJ, Freimuth RR, Biernacka JM. A Weighted Random Forests Approach to Improve Predictive Performance. Stat Anal Data Min. 2013 Dec 1; 6(6):496-505.
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  7. Zhu Q, Freimuth RR, Pathak J, Durski MJ, Chute CG. Disambiguation of PharmGKB drug-disease relations with NDF-RT and SPL. J Biomed Inform. 2013 Aug; 46(4):690-6. Epub 2013 May 29.
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  8. 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 The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. Clin Pharmacol Ther. 2013 Aug; 94(2):207-10. Epub 2013 Mar 19.
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  9. Tao C, Jiang G, Oniki TA, Freimuth RR, Zhu Q, Sharma D, Pathak J, Huff SM, Chute CG. A semantic-web oriented representation of the clinical element model for secondary use of electronic health records data. J Am Med Inform Assoc. 2013 May 1; 20(3):554-62. Epub 2012 Dec 25.
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  10. Zhu Q, Freimuth RR, Lian Z, Bauer S, Pathak J, Tao C, Durski MJ, Chute CG. Harmonization and semantic annotation of data dictionaries from the Pharmacogenomics Research Network: a case study. J Biomed Inform. 2013 Apr; 46(2):286-93. Epub 2012 Nov 29.
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  11. Kiefer RC, Freimuth RR, Chute CG, Pathak J. Mining Genotype-Phenotype Associations from Public Knowledge Sources via Semantic Web Querying. AMIA Jt Summits Transl Sci Proc. 2013; 2013:118-22. Epub 2013 Mar 18.
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  12. Zhu Q, Freimuth RR, Pathak J, Chute CG. Using clinical element models for pharmacogenomic study data standardization. AMIA Jt Summits Transl Sci Proc. 2013; 2013:292-6. Epub 2013 Mar 18.
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  13. Zhu Q, Freimuth RR, Pathak J, Chute CG. PharmGKB Drug Data Normalization with NDF-RT. AMIA Jt Summits Transl Sci Proc. 2013; 2013:180. Epub 2013 Mar 18.
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  14. Boyce RD, Freimuth RR, Romagnoli KM, Pummer T, Hochheiser H, Empey PE. Toward semantic modeling of pharmacogenomic knowledge for clinical and translational decision support. AMIA Summits Transl Sci Proc. 2013; 2013:28-32. Epub 2013 Mar 18.
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  15. Hassanzadeh O, Zhu Q, Freimuth R, Boyce R. Extending the "web of drug identity" with knowledge extracted from United States product labels. AMIA Summits Transl Sci Proc. 2013; 2013:64-8. Epub 2013 Mar 18.
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  16. Samwald M, Freimuth R, Luciano JS, Lin S, Powers RL, Marshall MS, Adlassnig KP, Dumontier M, Boyce RD. An RDF/OWL knowledge base for query answering and decision support in clinical pharmacogenetics. Stud Health Technol Inform. 2013; 192:539-42.
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  17. 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. Life sciences domain analysis model. J Am Med Inform Assoc. 2012 Nov-Dec; 19(6):1095-102. Epub 2012 Jun 28.
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  18. Samwald M, Coulet A, Huerga I, Powers RL, Luciano JS, Freimuth RR, Whipple F, Pichler E, Prud'hommeaux E, Dumontier M, Marshall MS. Semantically enabling pharmacogenomic data for the realization of personalized medicine. Pharmacogenomics. 2012 Jan; 13(2):201-12.
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  19. Pathak J, Kiefer R, Freimuth R, Chute C. Validation and discovery of genotype-phenotype associations in chronic diseases using linked data. Stud Health Technol Inform. 2012; 180:549-53.
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  20. Winham SJ, Colby CL, Freimuth RR, Wang X, de Andrade M, Huebner M, Biernacka JM. SNP interaction detection with Random Forests in high-dimensional genetic data. BMC Bioinformatics. 2012; 13:164. Epub 2012 Jul 15
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  21. Pathak J, Weiss LC, Durski MJ, Zhu Q, Freimuth RR, Chute CG. Integrating VA's NDF-RT drug terminology with PharmGKB: preliminary results. Pac Symp Biocomput. 2012; 400-9.
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  22. Fridley BL, Jenkins G, Deyo-Svendsen ME, Hebbring S, Freimuth R. Utilizing genotype imputation for the augmentation of sequence data. PLoS One. 2010; 5(6):e11018. Epub 2010 Jun 08.
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  23. Yu J, Freimuth RR, Culverhouse R, Marsh S, Watson MA, McLeod HL. DNA methylotype analysis in colorectal cancer. Oncol Rep. 2008 Oct; 20(4):921-7.
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  24. Ryu EJ, Yang M, Gustin JA, Chang LW, Freimuth RR, Nagarajan R, Milbrandt J. Analysis of peripheral nerve expression profiles identifies a novel myelin glycoprotein, MP11. J Neurosci. 2008 Jul 23; 28(30):7563-73.
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  25. Freimuth RR, Schauer MW, Lodha P, Govindrao P, Nagarajan R, Chute CG. caBIG compatibility review system: software to support the evaluation of applications using defined interoperability criteria. AMIA Annu Symp Proc. 2008; 197-201. Epub 2008 Nov 06.
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  26. Yu J, Mallon MA, Zhang W, Freimuth RR, Marsh S, Watson MA, Goodfellow PJ, McLeod HL. DNA repair pathway profiling and microsatellite instability in colorectal cancer. Clin Cancer Res. 2006 Sep 1; 12(17):5104-11.
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  27. Freimuth RR, Xiao M, Marsh S, Minton M, Addleman N, Van Booven DJ, McLeod HL, Kwok PY. Polymorphism discovery in 51 chemotherapy pathway genes. Hum Mol Genet. 2005 Dec 1; 14(23):3595-603. Epub 2005 Oct 20.
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  28. Freimuth RR, Stormo GD, McLeod HL. PolyMAPr: programs for polymorphism database mining, annotation, and functional analysis. Hum Mutat. 2005 Feb; 25(2):110-7.
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  29. King CR, Yu J, Freimuth RR, McLeod HL, Marsh S. Interethnic variability of ERCC2 polymorphisms. Pharmacogenomics J. 2005; 5(1):54-9.
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  30. Marsh S, Xiao M, Yu J, Ahluwalia R, Minton M, Freimuth RR, Kwok PY, McLeod HL. Pharmacogenomic assessment of carboxylesterases 1 and 2. Genomics. 2004 Oct; 84(4):661-8.
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  31. Blanchard RL, Freimuth RR, Buck J, Weinshilboum RM, Coughtrie MW. A proposed nomenclature system for the cytosolic sulfotransferase (SULT) superfamily. Pharmacogenetics. 2004 Mar; 14(3):199-211.
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  32. Freimuth RR, Ameyaw M-M, Pritchard SC, Kwok P-Y, McLeod HL. High-Throughput Genotyping Methods for Pharmacogenomic Studies. Current Pharmacogenomics. 2004; 2:21-33.
  33. Freimuth RR, Wiepert M, Chute CG, Wieben ED, Weinshilboum RM. Human cytosolic sulfotransferase database mining: identification of seven novel genes and pseudogenes. Pharmacogenomics J. 2004; 4(1):54-65.
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  34. Ahluwalia R, Freimuth R, McLeod HL, Marsh S. Use of pyrosequencing to detect clinically relevant polymorphisms in dihydropyrimidine dehydrogenase. Clin Chem. 2003 Oct; 49(10):1661-4.
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  35. Xu ZH, Freimuth RR, Eckloff B, Wieben E, Weinshilboum RM. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) pharmacogenetics: gene resequencing, genetic polymorphisms and functional characterization of variant allozymes. Pharmacogenetics. 2002 Jan; 12(1):11-21.
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  36. Thomae BA, Eckloff BW, Freimuth RR, Wieben ED, Weinshilboum RM. Human sulfotransferase SULT2A1 pharmacogenetics: genotype-to-phenotype studies. Pharmacogenomics J. 2002; 2(1):48-56.
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  37. Freimuth RR, Eckloff B, Wieben ED, Weinshilboum RM. Human sulfotransferase SULT1C1 pharmacogenetics: gene resequencing and functional genomic studies. Pharmacogenetics. 2001 Dec; 11(9):747-56.
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  38. Freimuth RR, Raftogianis RB, Wood TC, Moon E, Kim UJ, Xu J, Siciliano MJ, Weinshilboum RM. Human sulfotransferases SULT1C1 and SULT1C2: cDNA characterization, gene cloning, and chromosomal localization. Genomics. 2000 Apr 15; 65(2):157-65.
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  39. Xu ZH, Otterness DM, Freimuth RR, Carlini EJ, Wood TC, Mitchell S, Moon E, Kim UJ, Xu JP, Siciliano MJ, Weinshilboum RM. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization. Biochem Biophys Res Commun. 2000 Feb 16; 268(2):437-44.
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