D. Maglott

PROFILE

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Aliases
Donna Maglott, Donna R. Maglott, D R Maglott, D. Maglott, D. R. Maglott, Donna R Maglott
Publication record
161 papers · 48,190 citations · H-index 52

PAPERS

A Comprehensive Evaluation of Biomedical Entity Linking and Normalization Models
20230 citationsauthor #32
eP369: Increased automation reduces turnaround time for submissions to ClinVar
20220 citationsauthor #11
How the NIH Genetic Testing Registry and Medical Genetics Summaries can help oncologists adopt pharmacogenetics guidelines.
20200 citationsauthor #15
ClinVar: improvements to accessing data
2019751 citationsauthor #20
SPDI: Data Model for Variants and Applications at NCBI
201952 citationsauthor #4
Correction: Genome Sequence of the Pea Aphid Acyrthosiphon pisum
20186 citationsauthor #61
ClinVar: improving access to variant interpretations and supporting evidence
20173,480 citationsauthor #22
Variation Overview
20171 citationsauthor #6
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.
201723 citationsauthor #13
Gene Help
20170 citationsauthor #5
Table 4. [Filter sets (partial).].
20160 citationsauthor #7
Figure 10. [Representative subsection RefSeqs of Annotated...].
20160 citationsauthor #7
Table 2. [Access to Gene-specific sequence information from Gene.].
20160 citationsauthor #7
HGVS Recommendations for the Description of Sequence Variants: 2016 Update
20161,581 citationsauthor #3
Figure 5. [Representative Title and Summary sections of a Full Report.].
20160 citationsauthor #7
Using ClinVar as a Resource to Support Variant Interpretation
2016114 citationsauthor #3
Figure 4. [Representative Related information section. The...].
20160 citationsauthor #7
Figure 6. [Genomic context and Genomic regions,...].
20160 citationsauthor #7
Table 6. [Text phrases.].
20160 citationsauthor #7
Table 3. [Other properties in Gene (excluding those related to genetype, rnatype, source, and srcdb refseq).].
20160 citationsauthor #7
Figure 9. [Representative NCBI Reference Sequences (RefSeq)...].
20160 citationsauthor #7
Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard
201621 citationsauthor #4
Figure 11. [Advanced Search. Shown is an...].
20160 citationsauthor #7
Landscape scanning of cancer gene panels: A report from the NIH Genetic Testing Registry (GTR).
20161 citationsauthor #11
How Do I Obtain the Genomic Sequence around My Gene of Interest ?
20160 citationsauthor #3
Figure 2. [A representative Tabular report from...].
20160 citationsauthor #7
Figure 7. [Representative Bibliography section displaying articles...].
20160 citationsauthor #7
Table 1. [Data sources for Gene.].
20160 citationsauthor #7
Gene Help: Integrated Access to Genes of Genomes in the Reference Sequence Collection
201629 citationsauthor #7
Figure 3. [Gene Table display. Use the...].
20160 citationsauthor #7
Table 7. [Stopwords.].
20160 citationsauthor #7
The Reference Sequence ( RefSeq ) Database
201696 citationsauthor #4
Human Variome Project Quality Assessment Criteria for Variation Databases
201619 citationsauthor #3
Table 9. [The Name attributes of Gene’s Document Summary (docsum).].
20160 citationsauthor #7
Human genome meeting 2016
201620 citationsauthor #672
Table 5. [Fields used to categorize information in Gene records.].
20160 citationsauthor #7
Table 8. [Constructing queries.].
20160 citationsauthor #7
Figure 8. [Representative Phenotypes section in the...].
20160 citationsauthor #7
Human genome meeting 2016
20165 citationsauthor #754
Figure 1. [Display Settings.There are two types...].
20160 citationsauthor #7
[Table, Quick Start].
20160 citationsauthor #7
Reference Databases for Disease Associations
20151 citationsauthor #3
Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation
20155,469 citationsauthor #29
ClinVar: public archive of interpretations of clinically relevant variants
20152,516 citationsauthor #19
The NIH Genetic Testing Registry and content tailored for oncologists.
20150 citationsauthor #7
ClinGen--the Clinical Genome Resource.
20151,201 citationsauthor #8
The NIH genetic testing registry: Hereditary, pharmacogenetic, and somatic tests for oncology practice.
20140 citationsauthor #5
Database resources of the National Center for Biotechnology Information
20142,695 citationsauthor #18
Gene: a gene-centered information resource at NCBI
2014633 citationsauthor #10
Characterizing genetic variants for clinical action
201456 citationsauthor #28
ClinVar: public archive of relationships among sequence variation and human phenotype
20133,049 citationsauthor #7
Phenotype–Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources
2013215 citationsauthor #4
Genes and Gene Expression
20132 citationsauthor #1
Figure 2. [Clinical feature section in MedGen...].
20130 citationsauthor #2
Figure 5. [Gene sensor in PubMed. A...].
20130 citationsauthor #1
Figure 1. [Names, acronyms, identifiers, MOI, and...].
20130 citationsauthor #2
Database resources of the National Center for Biotechnology Information
201382 citationsauthor #32
Figure 1. [Overview of the flow of...].
20130 citationsauthor #7
Figure 2. [Tabular results of a ClinVar search.].
20130 citationsauthor #7
Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project
201321 citationsauthor #14
Figure 6. [The Molecular and Consumer resources...].
20130 citationsauthor #2
Figure 8. [The Reviews and Related information...].
20130 citationsauthor #2
Figure 4. [A record maintained independently of...].
20130 citationsauthor #1
Chapter 18 : The Reference Sequence ( RefSeq ) Database
201311 citationsauthor #4
Figure 3. [Detailed display of an RCV record. This is currently the default display.].
20130 citationsauthor #7
[Table, dbVar and structural variation].
20130 citationsauthor #6
RefSeq: an update on mammalian reference sequences
2013994 citationsauthor #27
Online Mendelian Inheritance in Man ( OMIM ) : A Directory of Human Genes and Genetic Disorders
201310 citationsauthor #1
Figure 4. [The clinical and research tests...].
20130 citationsauthor #2
Chapter 19 : Gene : A Directory of Genes
20130 citationsauthor #1
Figure 7. [The Medical Encyclopedia and Outreach...].
20130 citationsauthor #2
Figure 9. [The Table of contents in...].
20130 citationsauthor #2
Figure 3. [Gene in 2013. Partial display...].
20130 citationsauthor #1
Chapter 24 . Exercises : Using Map Viewer
20130 citationsauthor #3
Table 1. [A list of data elements aggregated in MedGen and their sources].
20130 citationsauthor #2
Figure 1. [Representation of gene-specific information in LocusLink.].
20130 citationsauthor #1
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
201378 citationsauthor #10
Figure 3. [Term hierarchies in MedGen. The...].
20130 citationsauthor #2
Figure 5. [The professional guidelines and clinical...].
20130 citationsauthor #2
Figure 2. [Gene in 2003. The diagram...].
20130 citationsauthor #1
Table 1. [Identifiers used by ClinVar].
20130 citationsauthor #7
Chapter 20 : Using the Map Viewer to Explore Genomes
20129 citationsauthor #2
The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency
2012185 citationsauthor #2
Clone DB: an integrated NCBI resource for clone-associated data
201217 citationsauthor #8
Database resources of the National Center for Biotechnology Information
2011175 citationsauthor #22
NCBI Reference Sequences (RefSeq): current status, new features and genome annotation policy
20111,188 citationsauthor #4
Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010
201115 citationsauthor #16
The Genome of the Sea Urchin Strongylocentrotus purpuratus Sea Urchin Genome Sequencing Consortium
20110 citationsauthor #37
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
2011158 citationsauthor #7
Databases in human and medical genetics
20100 citationsauthor #5
Entrez Gene: gene-centered information at NCBI
2010401 citationsauthor #1
Genome Sequence of the Pea Aphid Acyrthosiphon pisum
20101,250 citationsauthor #65
How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010
201039 citationsauthor #17
Functional and Evolutionary Insights from the Genomes of Three Parasitoid Nasonia Species
2010851 citationsauthor #91
Database resources of the National Center for Biotechnology Information
2010513 citationsauthor #21
The completion of the Mammalian Gene Collection (MGC).
2009137 citationsauthor #36
The chicken gene nomenclature committee report
200960 citationsauthor #6
genomes common protein-coding gene set for the human and mouse The consensus coding sequence ( CCDS ) project : Identifying a Material Supplemental
20090 citationsauthor #6
Planning the Human Variome Project: The Spain report
200949 citationsauthor #57
The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes.
2009582 citationsauthor #6

TIMELINE

1971 90 citations

1983 2 citations

1984 3 citations

1985 0 citations

1990 3 citations

1991 1 citations

1992 29 citations

1993 11 citations

1994 17 citations

1995 44 citations

1996 27 citations

1997 20 citations

1998 133 citations

2000 470 citations

2001 1,007 citations

2002 5,997 citations

2003 204 citations

2004 3,333 citations

2005 1,394 citations

2006 3,140 citations

2007 86 citations

2008 2,827 citations

2009 1,354 citations

2010 3,054 citations

2011 1,536 citations

2012 211 citations

2013 4,462 citations

2014 3,384 citations

2015 9,187 citations

2016 1,886 citations

2017 3,504 citations

2018 6 citations

2019 803 citations

2020 0 citations

2022 0 citations

2023 0 citations

Unknown 0 citations

D. Maglott

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