Author details

Full Name

Robert R Freimuth

Affiliation

Center for Individualized Medicine, Mayo Clinic

ORCID

Career Start Year

2000

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38037121	Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.	J Am Med Inform Assoc	2024
36540993	Development and application of a computable genotype model in the GA4GH Variation Representation Specification.	Pac Symp Biocomput	2023
37387049	Representing NIH Genetic Test Registry Data in the FHIR Genomic Study Resource.	Stud Health Technol Inform	2023
37373918	Clinician Perspectives on Clinical Decision Support for Familial Hypercholesterolemia.	J Pers Med	2023
35331649	Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.	Genet Med	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
36222570	Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine.	Bioinformatics	2022
35090449	Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions.	BMC Med Inform Decis Mak	2022
33447854	Recommendations for the safe, effective use of adaptive CDS in the US healthcare system: an AMIA position paper.	J Am Med Inform Assoc	2021
33930535	Genomic considerations for FHIRÂ®; eMERGE implementation lessons.	J Biomed Inform	2021
35072136	GA4GH: International policies and standards for data sharing across genomic research and healthcare.	Cell Genom	2021
35311178	The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.	Cell Genom	2021
33979874	Infobuttons for Genomic Medicine: Requirements and Barriers.	Appl Clin Inform	2021
31378813	Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol).	Int J Epidemiol	2020
36644330	Deploying Clinical Decision Support for Familial Hypercholesterolemia.	ACI open	2020
31837229	Translational Informatics Connects Real-World Information to Knowledge in an Increasingly Data-Driven World.	Clin Pharmacol Ther	2020
32717811	An Implementation Science Framework to Develop a Clinical Decision Support Tool for Familial Hypercholesterolemia.	J Pers Med	2020
32669677	Participant choices for return of genomic results in the eMERGE Network.	Genet Med	2020
32246132	A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.	Nat Genet	2020
32377377	Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.	NPJ Genom Med	2020
32323283	Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care.	Appl Clin Inform	2020
31258986	A Decade of Translational Bioinformatics: A Retrospective Analysis of "Year-in-Review" Presentations.	AMIA Jt Summits Transl Sci Proc	2019
31737042	Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.	Front Genet	2019
30311374	ClinGen Allele Registry links information about genetic variants.	Hum Mutat	2018
29888091	Prototype of a Standards-Based EHR and Genetic Test Reporting Tool Coupled with HL7-Compliant Infobuttons.	AMIA Jt Summits Transl Sci Proc	2018
29860405	Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.	J Am Med Inform Assoc	2018
30392543	The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results.	Mayo Clin Proc	2018
30311379	ClinGen advancing genomic data-sharing standards as a GA4GH driver project.	Hum Mutat	2018
27441996	Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).	Genet Med	2017
28109071	Implementing Genomic Clinical Decision Support for Drug-Based Precision Medicine.	CPT Pharmacometrics Syst Pharmacol	2017
28269911	Knowledge as a Service at the Point of Care.	AMIA Annu Symp Proc	2017
28502727	Concordance between Research Sequencing and Clinical Pharmacogenetic Genotyping in the eMERGE-PGx Study.	J Mol Diagn	2017
28090649	The Pharmacogenomics Research Network Translational Pharmacogenetics Program: Outcomes and Metrics of Pharmacogenetic Implementations Across Diverse Healthcare Systems.	Clin Pharmacol Ther	2017
27026620	Developing knowledge resources to support precision medicine: principles from the Clinical Pharmacogenetics Implementation Consortium (CPIC).	J Am Med Inform Assoc	2016
26479518	Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.	Clin Pharmacol Ther	2016
27652374	Practical considerations for implementing genomic information resources. Experiences from eMERGE and CSER.	Appl Clin Inform	2016
27579472	Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.	Appl Clin Inform	2016
26778834	The genomic CDS sandbox: An assessment among domain experts.	J Biomed Inform	2016
26911808	Harnessing next-generation informatics for personalizing medicine: a report from AMIA's 2014 Health Policy Invitational Meeting.	J Am Med Inform Assoc	2016
27107452	An informatics research agenda to support precision medicine: seven key areas.	J Am Med Inform Assoc	2016
25880555	Pharmacogenomic knowledge representation, reasoning and genome-based clinical decision support based on OWL 2 DL ontologies.	BMC Med Inform Decis Mak	2015
26430534	A conceptual model for translating omic data into clinical action.	J Pathol Inform	2015
26419264	Analyzing the potential for incorrect haplotype calls with different pharmacogenomic assays in different populations: a simulation based on 1000 Genomes data.	Pharmacogenomics	2015
26958298	Creating Shareable Clinical Decision Support Rules for a Pharmacogenomics Clinical Guideline Using Structured Knowledge Representation.	AMIA Annu Symp Proc	2015
26142422	CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.	J Am Med Inform Assoc	2015
23978487	Development and use of active clinical decision support for preemptive pharmacogenomics.	J Am Med Inform Assoc	2014
25954573	Simplifying complex clinical element models to encourage adoption.	AMIA Jt Summits Transl Sci Proc	2014
25954402	A Template for Authoring and Adapting Genomic Medicine Content in the eMERGE Infobutton Project.	AMIA Annu Symp Proc	2014
25954360	Evaluation of RxNorm for Medication Clinical Decision Support.	AMIA Annu Symp Proc	2014
24561393	Clinical Pharmacogenetics Implementation Consortium Guidelines for HLA-B Genotype and Abacavir Dosing: 2014 update.	Clin Pharmacol Ther	2014

1 - 50 of 86

Stephen B Ellis

Icahn School of Medicine at Mount Sinai

Career Start Year 2013

Number of shared co-authors 37

Huan Mo

University of Texas MD Anderson Cancer Center

Career Start Year 2011

Number of shared co-authors 24

Xiaoming Wang

Vanderbilt University

Career Start Year 2011

Number of shared co-authors 30

Omri Gottesman

Icahn School of Medicine at Mount Sinai

Career Start Year 2011

Number of shared co-authors 69

Lisa Bastarache

Vanderbilt University Medical Center

Career Start Year 2009

Number of shared co-authors 69

Jihoon Kim

university of california san diego

Career Start Year 2009

Number of shared co-authors 3

Nicholas P Tatonetti

Columbia Universtiy College of Physicians and Surgeons

Career Start Year 2009

Number of shared co-authors 36

Terrie Kitchner

Center for Precision Medicine Research, Marshfield Clinic Research Institute

Career Start Year 2007

Number of shared co-authors 61

Joel T Dudley

Institute for Next Generation Healthcare

Career Start Year 2006

Number of shared co-authors 16

Janey Wang

Vanderbilt University Medical Center

Career Start Year 2005

Number of shared co-authors 5

Murat Sincan

Boston University School of Public Health

Career Start Year 2004

Number of shared co-authors 16

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 66

Jomol Mathew

University of Wisconsin-Madison

Career Start Year 2004

Number of shared co-authors 2

Philip R O Payne

Institute for Informatics, Washington University School of Medicine in St. Louis

Career Start Year 2003

Number of shared co-authors 17

Noura S Abul-Husn

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai

Career Start Year 2002

Number of shared co-authors 64

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 64

Griffin M Weber

Harvard Medical School

Career Start Year 2001

Number of shared co-authors 12

Peter J Hulick

Neaman Center for Personalized Medicine, NorthShore University HealthSystem

Career Start Year 2000

Number of shared co-authors 12

Michael F Murray

Yale School of Medicine

Career Start Year 1999

Number of shared co-authors 31

Susanne B Haga

Duke University School of Medicine

Career Start Year 1999

Number of shared co-authors 11

Melissa A Basford

Vanderbilt University

Career Start Year 1997

Number of shared co-authors 74

Atul J Butte

Bakar Computational Health Sciences Institute, University of California san francisco

Career Start Year 1993

Number of shared co-authors 24

Lucila Ohno-Machado

Escola de Administracao de Empresas - FGV, Stanford University, University of California San Diego, University of Sao Paulo, Yale School of Medicine

Career Start Year 1993

Number of shared co-authors 36

Kei-Hoi Cheung

Yale University School of Medicine

Career Start Year 1992

Number of shared co-authors 9

Peter J Tonellato

University of Missouri School of Medicine

Career Start Year 1989

Number of shared co-authors 28

Prakash M Nadkarni

College of Nursing, University of Iowa Hospitals and Clinics

Career Start Year 1988

Number of shared co-authors 1

Warren A Kibbe

Duke Clinical Research Institute, Duke University

Career Start Year 1987

Number of shared co-authors 22

Geoffrey S Ginsburg

National Institutes of Health

Career Start Year 1981

Number of shared co-authors 52

Brian D Athey

University of Michigan Medical School ann arbor

Career Start Year 1977

Number of shared co-authors 12

Yves A Lussier

Center for Biomedical Informatics and Biostatistics, University of Arizona

Career Start Year 1971

Number of shared co-authors 8

row(s) 1 - 30 of 30

Christopher G Chute

Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota

Co-authored papers 21

Iftikhar J Kullo

Mayo Clinic

Co-authored papers 14

Marc S Williams

University of Washington Medical Center

Co-authored papers 14

Richard M Weinshilboum

Mayo Clinic

Co-authored papers 12

Jyotishman Pathak

Cornell University

Co-authored papers 12

Luke V Rasmussen

Northwestern University Feinberg School of Medicine

Co-authored papers 11

Pedro J Caraballo

Mayo Clinic

Co-authored papers 10

Josh F Peterson

Vanderbilt University Medical Center

Co-authored papers 9

Qian Zhu

University of Maryland Baltimore County

Co-authored papers 9

Howard L McLeod

Center for Precision Medicine and Functional Genomics, Utah Tech University

Co-authored papers 8

James M Hoffman

St. Jude Children's Research Hospital Memphis

Co-authored papers 8

Teri E Klein

Stanford University

Co-authored papers 7

Lawrence Babb

Broad Institute of MIT and Harvard

Co-authored papers 7

Casey Lynnette Overby

Institute for Clinical & Translational Research.

Co-authored papers 7

Mary V Relling

Departments of Pharmaceutical Sciences.

Co-authored papers 6

Michelle Whirl-Carrillo

Stanford University

Co-authored papers 6

Heidi L Rehm

The Broad Institute of MIT and Harvard

Co-authored papers 6

Alex H Wagner

Iowa State University, Mayo Clinic, Nationwide Children's Hospital, The Ohio State University College of Medicine, University of Iowa, Washington University in Saint Louis

Co-authored papers 6

Richard R Sharp

Biomedical Ethics, Mayo Clinic and Foundation

Co-authored papers 5

Eric Venner

Baylor College of Medicine

Co-authored papers 5

Richard D Boyce

University of Pittsburgh

Co-authored papers 5

John J Connolly

Center for Applied Genomics, Children's Hospital of Philadelphia