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Author Details

Donna R Maglott
National Center for Biotechnology Information, National Institutes of Health
1976
84
52
Christopher Churas (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
31738401SPDI: data model for variants and applications at NCBI.Bioinformatics2020
31777943ClinVar: improvements to accessing data.Nucleic Acids Res2020
29165669ClinVar: improving access to variant interpretations and supporting evidence.Nucleic Acids Res2018
28315672Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.J Mol Diagn2017
26919176Human Variome Project Quality Assessment Criteria for Variation Databases.Hum Mutat2016
26479518Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.Clin Pharmacol Ther2016
26582918ClinVar: public archive of interpretations of clinically relevant variants.Nucleic Acids Res2016
26553804Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation.Nucleic Acids Res2016
27579472Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard.Appl Clin Inform2016
27037489Using ClinVar as a Resource to Support Variant Interpretation.Curr Protoc Hum Genet2016
26931183HGVS Recommendations for the Description of Sequence Variants: 2016 Update.Hum Mutat2016
25355515Gene: a gene-centered information resource at NCBI.Nucleic Acids Res2015
26014595ClinGen--the Clinical Genome Resource.N Engl J Med2015
23695286Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources.Eur J Hum Genet2014
24634402Characterizing genetic variants for clinical action.Am J Med Genet C Semin Med Genet2014
24285302Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.Nucleic Acids Res2014
24259432RefSeq: an update on mammalian reference sequences.Nucleic Acids Res2014
24234437ClinVar: public archive of relationships among sequence variation and human phenotype.Nucleic Acids Res2014
23193260Clone DB: an integrated NCBI resource for clone-associated data.Nucleic Acids Res2013
23401191Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.Hum Mutat2013
23193275The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency.Nucleic Acids Res2013
22121212NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy.Nucleic Acids Res2012
22140104Database resources of the National Center for Biotechnology Information.Nucleic Acids Res2012
21097890Database resources of the National Center for Biotechnology Information.Nucleic Acids Res2011
21387463Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.Hum Mutat2011
21423179Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.Nat Genet2011
21115458Entrez Gene: gene-centered information at NCBI.Nucleic Acids Res2011
20075255Functional and evolutionary insights from the genomes of three parasitoid Nasonia species.Science2010
20960468How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.Hum Mutat2010
20398331Locus Reference Genomic sequences: an improved basis for describing human DNA variants.Genome Med2010
19910364Database resources of the National Center for Biotechnology Information.Nucleic Acids Res2010
18940862Database resources of the National Center for Biotechnology Information.Nucleic Acids Res2009
19607656The Chicken Gene Nomenclature Committee report.BMC Genomics2009
19767417The completion of the Mammalian Gene Collection (MGC).Genome Res2009
19390049The genome sequence of taurine cattle: a window to ruminant biology and evolution.Science2009
19498102The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes.Genome Res2009
19468303Lineage-specific biology revealed by a finished genome assembly of the mouse.PLoS Biol2009
19306394Planning the human variome project: the Spain report.Hum Mutat2009
18927115NCBI Reference Sequences: current status, policy and new initiatives.Nucleic Acids Res2009
18927109Human immunodeficiency virus type 1, human protein interaction database at NCBI.Nucleic Acids Res2009
18045790Database resources of the National Center for Biotechnology Information.Nucleic Acids Res2008
19025396Cataloguing the HIV type 1 human protein interaction network.AIDS Res Hum Retroviruses2008
18988827GENETICS. The Human Variome Project.Science2008
18362917The genome of the model beetle and pest Tribolium castaneum.Nature2008
18443589What everybody should know about the rat genome and its online resources.Nat Genet2008
17148475Entrez Gene: gene-centered information at NCBI.Nucleic Acids Res2007
17392799Recommendations of the 2006 Human Variome Project meeting.Nat Genet2007
17170002Database resources of the National Center for Biotechnology Information.Nucleic Acids Res2007
17130148NCBI reference sequences (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins.Nucleic Acids Res2007
16381840Database resources of the National Center for Biotechnology Information.Nucleic Acids Res2006
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Collaborators

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Co-authored papers 11
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Co-authored papers 10
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Co-authored papers 8
Medical University of Graz
Co-authored papers 8
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Co-authored papers 8
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 8
Leiden University Medical Center
Co-authored papers 8
University of Massachusetts Medical School
Co-authored papers 7
European Bioinformatics Institute
Co-authored papers 7
Baylor College of Medicine
Co-authored papers 7
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 6
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 6
Baylor College of Medicine
Co-authored papers 6
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Co-authored papers 6
University of Maryland School of Medicine, Institute for Genome Sciences
Co-authored papers 5
European Bioinformatics Institute
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National Center for Biotechnology Information, National Institutes of Health
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Baylor College of Medicine
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CancerLinQ LLC, American Society of Clinical Oncology
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Baylor College of Medicine
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University of Houston
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Lund University
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