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Author Details
Full Name
Alex H Wagner
Affiliation
Iowa State University, Mayo Clinic, Nationwide Children's Hospital, The Ohio State University College of Medicine, University of Iowa, Washington University in Saint Louis
ORCID
0000-0002-2502-8961
Career Start Year
2013
Papers
43
H Index
22
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37953380
DGIdb 5.0: rebuilding the drug-gene interaction database for precision medicine and drug discovery platforms.
Nucleic Acids Res
2024
36373660
CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.
Nucleic Acids Res
2023
37860057
Sync for Genes Phase 5: Computable artifacts for sharing dynamically annotated FHIR-formatted genomic variants.
Learn Health Syst
2023
37954974
Normalization of drug and therapeutic concepts with Thera-Py.
JAMIA Open
2023
37196000
Phenopacket-tools: Building and validating GA4GH Phenopackets.
PLoS One
2023
37426450
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
ArXiv
2023
36541006
Accessing clinical-grade genomic classification data through the ClinGen Data Platform.
Pac Symp Biocomput
2023
36540993
Development and application of a computable genotype model in the GA4GH Variation Representation Specification.
Pac Symp Biocomput
2023
34907337
Correction to: Recommendations for future extensions to the HGNC gene fusion nomenclature.
Leukemia
2022
35616100
A Simple Standard for Sharing Ontological Mappings (SSSOM).
Database (Oxford)
2022
35705716
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Nat Biotechnol
2022
35624339
A community approach to the cancer-variant-interpretation bottleneck.
Nat Cancer
2022
36910590
GA4GH Phenopackets: A Practical Introduction.
Adv Genet (Hoboken)
2022
35871236
Genomic architecture of FGFR2 fusions in cholangiocarcinoma and its implication for molecular testing.
Br J Cancer
2022
36063163
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
2022
36222570
Leveraging a pharmacogenomics knowledgebase to formulate a drug response phenotype terminology for genomic medicine.
Bioinformatics
2022
33631297
Artificial intelligence and pathology: From principles to practice and future applications in histomorphology and molecular profiling.
Semin Cancer Biol
2022
35101336
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
2022
33237278
Integration of the Drug-Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts.
Nucleic Acids Res
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
34863095
Discovery of clinically relevant fusions in pediatric cancer.
BMC Genomics
2021
34764425
Recommendations for future extensions to the HGNC gene fusion nomenclature.
Leukemia
2021
32194985
FHIR Genomics: enabling standardization for precision medicine use cases.
NPJ Genom Med
2020
32644817
Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices.
JCO Clin Cancer Inform
2020
32246132
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.
Nat Genet
2020
30287923
Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples.
Genet Med
2019
31779674
Standard operating procedure for curation and clinical interpretation of variants in cancer.
Genome Med
2019
29156001
DGIdb 3.0: a redesign and expansion of the drug-gene interaction database.
Nucleic Acids Res
2018
30224629
Recurrent WNT pathway alterations are frequent in relapsed small cell lung cancer.
Nat Commun
2018
30397337
A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data.
Nat Genet
2018
30311370
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
Hum Mutat
2018
28138153
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer.
Nat Genet
2017
27181063
Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia.
Exp Hematol
2016
26531824
DGIdb 2.0: mining clinically relevant drug-gene interactions.
Nucleic Acids Res
2016
27684579
DoCM: a database of curated mutations in cancer.
Nat Methods
2016
27229768
Whole-gene sequencing investigation of SAT1 in attempted suicide.
Am J Med Genet B Neuropsychiatr Genet
2016
27288499
GenVisR: Genomic Visualizations in R.
Bioinformatics
2016
24767545
Optic nerve crush induces spatial and temporal gene expression patterns in retina and optic nerve of BALB/cJ mice.
Mol Neurodegener
2014
25446321
Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.
Exp Eye Res
2014
23500522
Exon-level expression profiling of ocular tissues.
Exp Eye Res
2013
23508994
Prioritization of retinal disease genes: an integrative approach.
Hum Mutat
2013
23918662
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Hum Mol Genet
2013
1 - 43 of 43
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