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Author Details

Lawrence Babb
Broad Institute of MIT and Harvard
2011
20
13
PMIDPaper TitleJournal TitlePublished Year
36540993Development and application of a computable genotype model in the GA4GH Variation Representation Specification.Pac Symp Biocomput2023
37860057Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.Learn Health Syst2023
36541006Accessing clinical-grade genomic classification data through the ClinGen Data Platform.Pac Symp Biocomput2023
35266241seqr: A web-based analysis and collaboration tool for rare disease genomics.Hum Mutat2022
35507016The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Genet Med2022
34890165An Investigation of the Knowledge Overlap between Pharmacogenomics and Disease Genetics.Pac Symp Biocomput2022
35311178The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification.Cell Genom2021
33930535Genomic considerations for FHIR®; eMERGE implementation lessons.J Biomed Inform2021
35072136GA4GH: International policies and standards for data sharing across genomic research and healthcare.Cell Genom2021
30311374ClinGen Allele Registry links information about genetic variants.Hum Mutat2018
29860405Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example.J Am Med Inform Assoc2018
30311379ClinGen advancing genomic data-sharing standards as a GA4GH driver project.Hum Mutat2018
28081714ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.Genome Med2017
28315672Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.J Mol Diagn2017
26805890Information Technology Support for Clinical Genetic Testing within an Academic Medical Center.J Pers Med2016
25611685Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.Genet Med2015
25835197CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.Genet Med2015
24013137A novel clinician interface to improve clinician access to up-to-date genetic results.J Am Med Inform Assoc2014
22481129Communicating new knowledge on previously reported genetic variants.Genet Med2012
21432942The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.Hum Mutat2011
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Collaborators

The Broad Institute of MIT and Harvard
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Center for Individualized Medicine, Mayo Clinic
Co-authored papers 7
Georgetown University.
Co-authored papers 6
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Co-authored papers 6
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Co-authored papers 5
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 5
Baylor College of Medicine
Co-authored papers 4
European Bioinformatics Institute
Co-authored papers 4
Baylor College of Medicine
Co-authored papers 4
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Co-authored papers 3
Baylor College of Medicine
Co-authored papers 3
University of Colorado Anschutz Medical Campus
Co-authored papers 3
Renaissance Computing Institute (RENCI), University of North Carolina at Chapel Hill
Co-authored papers 3
Harvard Medical School, Brigham and Women's Hospital
Co-authored papers 3
Baylor College of Medicine
Co-authored papers 3
Broad Institute of MIT and Harvard
Co-authored papers 3
Stanford University School of Medicine
Co-authored papers 3
Johns Hopkins University School of Medicine
Co-authored papers 2
Broad Institute
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Washington University
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Mayo Clinic
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European Bioinformatics Institute
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Washington University
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National Center for Biotechnology Information, National Institutes of Health
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USC/Children's Hospital Los Angeles Los Angeles California USA.
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American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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Oregon Health & Science University
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Murdoch Children's Research Institute
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European Bioinformatics Institute
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Mayo Clinic
Co-authored papers 2