• 1899 Citations
  • 24 Scopus h-Index
20002019
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Fingerprint Dive into the research topics where Robert Freimuth is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 9 Similar Profiles
Pharmacogenetics Medicine & Life Sciences
Clinical Decision Support Systems Medicine & Life Sciences
Electronic Health Records Medicine & Life Sciences
Single Nucleotide Polymorphism Medicine & Life Sciences
Sulfotransferases Medicine & Life Sciences
Precision Medicine Medicine & Life Sciences
Genes Medicine & Life Sciences
Semantics Medicine & Life Sciences

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Research Output 2000 2019

  • 1899 Citations
  • 24 Scopus h-Index
  • 58 Article
  • 4 Conference contribution
  • 1 Review article

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

the eMERGE Consortium, Sep 5 2019, In : American journal of human genetics. 105, 3, p. 588-605 18 p.

Research output: Contribution to journalArticle

Electronic Health Records
Genetic Testing
Clinical Decision Support Systems
Precision Medicine
Gene Targeting
5 Citations (Scopus)

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

Dolman, L., Page, A., Babb, L., Freimuth, R., Arachchi, H., Bizon, C., Brush, M., Fiume, M., Haendel, M., Hansen, D. P., Milosavljevic, A., Patel, R. Y., Pawliczek, P., Yates, A. D. & Rehm, H. L., Nov 1 2018, In : Human Mutation. 39, 11, p. 1686-1689 4 p.

Research output: Contribution to journalArticle

Information Dissemination
Genome
Genomics
Insurance Pools
Precision Medicine
4 Citations (Scopus)

ClinGen Allele Registry links information about genetic variants

on behalf of the Clinical Genome (ClinGen) Resource, Nov 1 2018, In : Human Mutation. 39, 11, p. 1690-1701 12 p.

Research output: Contribution to journalArticle

Registries
Alleles
Hypermedia
Sequence Alignment
Virulence
3 Citations (Scopus)

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

Aronson, S., Babb, L., Ames, D., Gibbs, R. A., Venner, E., Connelly, J. J., Marsolo, K., Weng, C., Williams, M. S., Hartzler, A. L., Liang, W. H., Ralston, J. D., Devine, E. B., Murphy, S., Chute, C. G., Caraballo, P., Kullo, I. J., Freimuth, R., Rasmussen, L. V., Wehbe, F. H. & 4 others, Peterson, J. F., Robinson, J. R., Wiley, K. & Overby Taylor, C., Oct 1 2018, In : Journal of the American Medical Informatics Association. 25, 10, p. 1375-1381 7 p.

Research output: Contribution to journalArticle

Clinical Decision Support Systems
Point-of-Care Systems
Medicine
Health Personnel
3 Citations (Scopus)

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

Kullo, I. J., Olson, J. E., Fan, X., Jose, M., Safarova, M., Radecki Breitkopf, C., Winkler, E., Kochan, D. C., Snipes, S., Pacyna, J. E., Carney, M., Chute, C. G., Gupta, J., Jose, S., Venner, E., Murugan, M., Jiang, Y., Zordok, M., Farwati, M., Philogene, M. & 7 others, Smith, E., Shaibi, G. Q., Caraballo, P., Freimuth, R., Lindor, N. M., Sharp, R. R. & Thibodeau, S. N., Nov 1 2018, In : Mayo Clinic Proceedings. 93, 11, p. 1600-1610 11 p.

Research output: Contribution to journalArticle

Medicine
Electronic Health Records
Genes
Cardiovascular Diseases
Penetrance