Publications - Robert Freimuth, Ph.D.

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1. 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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2. 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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3. 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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4. 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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5. Pathak J, Kiefer RC, Freimuth RR, Chute CG. Validation and Discovery of Genotype-Phenotype Associations in Chronic Diseases using Linked Data. 24th Conference of the European Federation for Medical Informatics (MIE). 2012.
6. 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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7. 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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8. 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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9. 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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10. 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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11. 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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12. 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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13. 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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14. 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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15. 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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16. 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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17. 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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18. 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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19. 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.
20. 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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21. 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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22. 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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23. 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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24. 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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25. 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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26. 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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