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Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource

2023-06-29 | Book chapter
Contributors: Aly Khalifa; Robert R. Freimuth
Source: check_circle
Crossref

Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine

Bioinformatics
2022-11-30 | Journal article
Contributors: Yiqing Zhao; Matthew Brush; Chen Wang; Alex H Wagner; Hongfang Liu; Robert R Freimuth; Janet Kelso
Source: check_circle
Crossref

Development and application of a computable genotype model in the GA4GH Variation Representation Specification

2022-09-06 | Preprint
Contributors: Wesley Goar; Lawrence Babb; Srikar Chamala; Melissa Cline; Robert R. Freimuth; Reece K. Hart; Kori Kuzma; Jennifer Lee; Tristan Nelson; Andreas Prlić et al.
Source: check_circle
Crossref

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

Human Mutation
2018 | Journal article
EID:

2-s2.0-85054673141

Contributors: Dolman, L.; Page, A.; Babb, L.; Freimuth, R.R.; Arachchi, H.; Bizon, C.; Brush, M.; Fiume, M.; Haendel, M.; Hansen, D.P. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

ClinGen Allele Registry links information about genetic variants

Human Mutation
2018 | Journal article
EID:

2-s2.0-85054695927

Contributors: Pawliczek, P.; Patel, R.Y.; Ashmore, L.R.; Jackson, A.R.; Bizon, C.; Nelson, T.; Powell, B.; Freimuth, R.R.; Strande, N.; Shah, N. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of the American Medical Informatics Association
2018 | Journal article
EID:

2-s2.0-85054893335

Contributors: Aronson, S.; Babb, L.; Ames, D.; Gibbs, R.A.; Venner, E.; Connelly, J.J.; Marsolo, K.; Weng, C.; Williams, M.S.; Hartzler, A.L. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Mayo Clinic Proceedings
2018 | Journal article
EID:

2-s2.0-85054757311

Contributors: Kullo, I.J.; Olson, J.; Fan, X.; Jose, M.; Safarova, M.; Radecki Breitkopf, C.; Winkler, E.; Kochan, D.C.; Snipes, S.; Pacyna, J.E. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of Molecular Diagnostics
2017 | Journal article
EID:

2-s2.0-85021273137

Contributors: Rasmussen-Torvik, L.J.; Almoguera, B.; Doheny, K.F.; Freimuth, R.R.; Gordon, A.S.; Hakonarson, H.; Hawkins, J.B.; Husami, A.; Ivacic, L.C.; Kullo, I.J. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Implementing genomic clinical decision support for drug-based precision medicine

CPT: Pharmacometrics and Systems Pharmacology
2017 | Journal article
EID:

2-s2.0-85015646935

Contributors: Freimuth, R.R.; Formea, C.M.; Hoffman, J.M.; Matey, E.; Peterson, J.F.; Boyce, R.D.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Genetics in Medicine
2017 | Journal article
EID:

2-s2.0-85011846544

Contributors: Caudle, K.E.; Dunnenberger, H.M.; Freimuth, R.R.; Peterson, J.F.; Burlison, J.D.; Whirl-Carrillo, M.; Scott, S.A.; Rehm, H.L.; Williams, M.S.; Klein, T.E. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Clinical Pharmacology and Therapeutics
2017 | Journal article
EID:

2-s2.0-85020388874

Contributors: Luzum, J.A.; Pakyz, R.E.; Elsey, A.R.; Haidar, C.E.; Peterson, J.F.; Whirl-Carrillo, M.; Handelman, S.K.; Palmer, K.; Pulley, J.M.; Beller, M. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

An informatics research agenda to support precision medicine: Seven key areas

Journal of the American Medical Informatics Association
2016 | Journal article
EID:

2-s2.0-84981180095

Contributors: Tenenbaum, J.D.; Avillach, P.; Benham-Hutchins, M.; Breitenstein, M.K.; Crowgey, E.L.; Hoffman, M.A.; Jiang, X.; Madhavan, S.; Mattison, J.E.; Nagarajan, R. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of the American Medical Informatics Association
2016 | Journal article
EID:

2-s2.0-84981165074

Contributors: Hoffman, J.M.; Dunnenberger, H.M.; Hicks, J.K.; Caudle, K.E.; Carrillo, M.W.; Freimuth, R.R.; Williams, M.S.; Klein, T.E.; Peterson, J.F.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Harnessing next-generation informatics for personalizing medicine: A report from AMIA's 2014 health policy invitational meeting

Journal of the American Medical Informatics Association
2016 | Journal article
EID:

2-s2.0-84963769662

Contributors: Wiley, L.K.; Tarczy-Hornoch, P.; Denny, J.C.; Freimuth, R.R.; Overby, C.L.; Shah, N.; Martin, R.D.; Sarkar, I.N.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Integrating genomic resources with electronic health records using the HL7 infobutton standard

Applied Clinical Informatics
2016 | Journal article
EID:

2-s2.0-84988734928

Contributors: Heale, B.S.E.; Overby, C.L.; Del Fiol, G.; Rubinstein, W.S.; Maglott, D.R.; Nelson, T.H.; Milosavljevic, A.; Martin, C.L.; Goehringer, S.R.; Freimuth, R.R. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Knowledge as a Service at the Point of Care

AMIA ... Annual Symposium proceedings. AMIA Symposium
2016 | Journal article
EID:

2-s2.0-85027971677

Contributors: Shellum, J.L.; Freimuth, R.R.; Peters, S.G.; Nishimura, R.A.; Chaudhry, R.; Demuth, S.J.; Knopp, A.L.; Miksch, T.A.; Milliner, D.S.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

Clinical Pharmacology and Therapeutics
2016 | Journal article
EID:

2-s2.0-84962394091

Contributors: Kalman, L.V.; Agúndez, J.A.G.; Appell, M.L.; Black, J.L.; Bell, G.C.; Boukouvala, S.; Bruckner, C.; Bruford, E.; Caudle, K.; Coulthard, S.A. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Applied Clinical Informatics
2016 | Journal article
EID:

2-s2.0-84988726328

Contributors: Rasmussen, L.V.; Overby, C.L.; Connolly, J.; Chute, C.G.; Denny, J.C.; Freimuth, R.R.; Hartzler, A.L.; Holm, I.A.; Manzi, S.; Pathak, J. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

The genomic CDS sandbox: An assessment among domain experts

Journal of Biomedical Informatics
2016 | Journal article
EID:

2-s2.0-84962903659

Contributors: Aziz, A.; Kawamoto, K.; Eilbeck, K.; Williams, M.S.; Freimuth, R.R.; Hoffman, M.A.; Rasmussen, L.V.; Overby, C.L.; Shirts, B.H.; Hoffman, J.M. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Towards a standard ontology metadata model

CEUR Workshop Proceedings
2016 | Conference paper
EID:

2-s2.0-85018746118

Contributors: Min, H.; Turner, S.; De Coronado, S.; Davis, B.; Whetzel, T.; Freimuth, R.R.; Solbrig, H.R.; Kiefer, R.; Riben, M.; Stafford, G.A. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Translational bioinformatics 101

Pacific Symposium on Biocomputing
2016 | Journal article
EID:

2-s2.0-85012124099

Contributors: Tenenbaum, J.D.; Madhavan, S.; Freimuth, R.R.; Denny, J.C.; Frey, L.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Pharmacogenomics
2015 | Journal article
EID:

2-s2.0-84949231061

Contributors: Samwald, M.; Blagec, K.; Hofer, S.; Freimuth, R.R.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

AMIA ... Annual Symposium proceedings. AMIA Symposium
2015 | Journal article
EID:

2-s2.0-85045028886

Contributors: Linan, M.K.; Sottara, D.; Freimuth, R.R.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of the American Medical Informatics Association
2015 | Journal article
EID:

2-s2.0-84952940623

Contributors: Shirts, B.H.; Salama, J.S.; Aronson, S.J.; Chung, W.K.; Gray, S.W.; Hindorff, L.A.; Jarvik, G.P.; Plon, S.E.; Stoffel, E.M.; Tarczy-Hornoch, P.Z. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

BMC Medical Informatics and Decision Making
2015 | Journal article
EID:

2-s2.0-84924171352

Contributors: Samwald, M.; Giménez, J.A.M.; Boyce, R.D.; Freimuth, R.R.; Adlassnig, K.-P.; Dumontier, M.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium
2014 | Journal article
EID:

2-s2.0-84964313741

Contributors: Overby, C.L.; Rasmussen, L.V.; Hartzler, A.; Connolly, J.J.; Peterson, J.F.; Hedberg, R.E.; Freimuth, R.R.; Shirts, B.H.; Denny, J.C.; Larson, E.B. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing: 2014 update

Clinical Pharmacology and Therapeutics
2014 | Journal article
EID:

2-s2.0-84899417586

Contributors: Martin, M.A.; Hoffman, J.M.; Freimuth, R.R.; Klein, T.E.; Dong, B.J.; Pirmohamed, M.; Hicks, J.K.; Wilkinson, M.R.; Haas, D.W.; Kroetz, D.L.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Development and use of active clinical decision support for preemptive pharmacogenomics

Journal of the American Medical Informatics Association
2014 | Journal article
EID:

2-s2.0-84893549013

Contributors: Bell, G.C.; Crews, K.R.; Wilkinson, M.R.; Haidar, C.E.; Hicks, J.K.; Baker, D.K.; Kornegay, N.M.; Yang, W.; Cross, S.J.; Howard, S.C. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Evaluation of RxNorm for Medication Clinical Decision Support

AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium
2014 | Journal article
EID:

2-s2.0-84964315396

Contributors: Freimuth, R.R.; Wix, K.; Zhu, Q.; Siska, M.; Chute, C.G.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Incorporation of pharmacogenomics into routine clinical practice: The clinical pharmacogenetics implementation consortium (CPIC) guideline development process

Current Drug Metabolism
2014 | Journal article
EID:

2-s2.0-84900854522

Contributors: Caudle, K.E.; Klein, T.E.; Hoffman, J.M.; Müller, D.J.; Whirl-Carrillo, M.; Gong, L.; McDonagh, E.M.; Sangkuhl, K.; Thorn, C.F.; Schwab, M. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Preemptive genotyping for personalized medicine: Design of the right drug, right dose, right timedusing genomic data to individualize treatment protocol

Mayo Clinic Proceedings
2014 | Journal article
EID:

2-s2.0-84893097016

Contributors: Bielinski, S.J.; Olson, J.E.; Pathak, J.; Weinshilboum, R.M.; Wang, L.; Lyke, K.J.; Ryu, E.; Targonski, P.V.; Van Norstrand, M.D.; Hathcock, M.A. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of the American Medical Informatics Association
2013 | Journal article
EID:

2-s2.0-84879925234

Contributors: Tao, C.; Jiang, G.; Oniki, T.A.; Freimuth, R.R.; Zhu, Q.; Sharma, D.; Pathak, J.; Huff, S.M.; Chute, C.G.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

A weighted random forests approach to improve predictive performance

Statistical Analysis and Data Mining
2013 | Journal article
EID:

2-s2.0-84890157266

Contributors: Winham, S.J.; Freimuth, R.R.; Biernacka, J.M.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

An RDF/OWL knowledge base for query answering and decision support in clinical pharmacogenetics

Studies in Health Technology and Informatics
2013 | Book
EID:

2-s2.0-84894309334

Contributors: Samwald, M.; Freimuth, R.; Luciano, J.S.; Lin, S.; Powers, R.L.; Marshall, M.S.; Adlassnig, K.-P.; Dumontier, M.; Boyce, R.D.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of Biomedical Informatics
2013 | Journal article
EID:

2-s2.0-84880329908

Contributors: Zhu, Q.; Freimuth, R.R.; Pathak, J.; Durski, M.J.; Chute, C.G.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of Biomedical Informatics
2013 | Journal article
EID:

2-s2.0-84875588566

Contributors: Zhu, Q.; Freimuth, R.R.; Lian, Z.; Bauer, S.; Pathak, J.; Tao, C.; Durski, M.J.; Chute, C.G.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Making data on essential pharmacogenes available for every patient everywhere: The medicine safety code initiative

Pharmacogenomics
2013 | Journal article
EID:

2-s2.0-84885409171

Contributors: Samwald, M.; Freimuth, R.R.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

The pharmacogenomics research network translational pharmacogenetics program: Overcoming challenges of real-world implementation

Clinical Pharmacology and Therapeutics
2013 | Journal article
EID:

2-s2.0-84880727398

Contributors: Shuldiner, A.R.; Relling, M.V.; Peterson, J.F.; Hicks, K.; Freimuth, R.R.; Sadee, W.; Pereira, N.L.; Roden, D.M.; Johnson, J.A.; Klein, T.E.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

A semantic-web oriented representation of clinical element model for secondary use of electronic healthcare data

Proceedings - 2012 IEEE 2nd Conference on Healthcare Informatics, Imaging and Systems Biology, HISB 2012
2012 | Conference paper
EID:

2-s2.0-84872003569

Contributors: Tao, C.; Jiang, G.; Oniki, T.A.; Freimuth, R.R.; Pathak, J.; Zhu, Q.; Sharma, D.; Huff, S.M.; Chute, C.G.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Integratingva's NDF-RT drug terminology with PharmGKB: Preliminary results

Pacific Symposium on Biocomputing
2012 | Journal article
EID:

2-s2.0-84891471818

Contributors: Pathak, J.; Weiss, L.C.; Durski, M.J.; Zhu, Q.; Freimuth, R.R.; Chute, C.G.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Life sciences domain analysis model

Journal of the American Medical Informatics Association
2012 | Journal article
EID:

2-s2.0-84867664499

Contributors: Freimuth, R.R.; Freund, E.T.; Schick, L.; Sharma, M.K.; Stafford, G.A.; Suzek, B.E.; Hernandez, J.; Hipp, J.; Kelley, J.M.; Rokicki, K. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Semantically enabling pharmacogenomic data for the realization of personalized medicine

Pharmacogenomics
2012 | Journal article
EID:

2-s2.0-84855963774

Contributors: Samwald, M.; Coulet, A.; Huerga, I.; Powers, R.L.; Luciano, J.S.; Freimuth, R.R.; Whipple, F.; Pichler, E.; Prudhommeaux, E.; Dumontier, M. et al.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

BMC Bioinformatics
2012 | Journal article
EID:

2-s2.0-84867083314

Contributors: Winham, S.J.; Colby, C.L.; Freimuth, R.R.; Wang, X.; de Andrade, M.; Huebner, M.; Biernacka, J.M.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Validation and discovery of genotype-phenotype associations in chronic diseases using linked data

Studies in Health Technology and Informatics
2012 | Book
EID:

2-s2.0-84872553799

Contributors: Pathak, J.; Kiefer, R.; Freimuth, R.; Chute, C.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Utilizing genotype imputation for the augmentation of sequence data

PLoS ONE
2010 | Journal article
EID:

2-s2.0-77956197018

Contributors: Fridley, B.L.; Jenkins, G.; Deyo-Svendsen, M.E.; Hebbring, S.; Freimuth, R.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

Journal of Neuroscience
2008 | Journal article
EID:

2-s2.0-50549088550

Contributors: Ryu, E.J.; Yang, M.; Gustin, J.A.; Chang, L.-W.; Freimuth, R.R.; Nagarajan, R.; Milbrandt, J.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

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

AMIA ... Annual Symposium proceedings / AMIA Symposium. AMIA Symposium
2008 | Journal article
EID:

2-s2.0-73949088370

Contributors: Freimuth, R.R.; Schauer, M.W.; Lodha, P.; Govindrao, P.; Nagarajan, R.; Chute, C.G.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

DNA methylotype analysis in colorectal cancer

Oncology Reports
2008 | Journal article
EID:

2-s2.0-54949098442

Contributors: Yu, J.; Freimuth, R.R.; Culverhouse, R.; Marsh, S.; Watson, M.A.; McLeod, H.L.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

DNA repair pathway profiling and microsatellite instability in colorectal cancer

Clinical Cancer Research
2006 | Journal article
EID:

2-s2.0-33749004540

Contributors: Yu, J.; Mallon, M.A.; Zhang, W.; Freimuth, R.R.; Marsh, S.; Watson, M.A.; Goodfellow, P.J.; McLeod, H.L.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier

Interethnic variability of ERCC2 polymorphisms

Pharmacogenomics Journal
2005 | Journal article
EID:

2-s2.0-13544255725

Contributors: King, C.R.; Yu, J.; Freimuth, R.R.; McLeod, H.L.; Marsh, S.
Source: Self-asserted source
Robert Freimuth via Scopus - Elsevier
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Page 1 of 2

Peer review (2 reviews for 2 publications/grants)

Review activity for Genetics in medicine. (1)
Review activity for Genome medicine. (1)