Alex H. Wagner

Nationwide Children's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

31h-index6.6kcitations176works4.32yr avg
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Research Topics

Cancer Genomics and Diagnostics(79), Genomics and Rare Diseases(76), Biomedical Text Mining and Ontologies(46), Genetic factors in colorectal cancer(18), Bioinformatics and Genomic Networks(17)

Publications174 total

The Clinical Genomic Variation Landscape
2025· 2 citedOpen Access
CIViC MCP: Integrating Large Language Models with the Clinical Interpretations of Variants in Cancer
2025· 1 citedOpen Access
Taming the reference genome jungle: the refget sequence collection standard
2025· 1 citedOpen Access
PEDIA-BRAIN: A single nuclei multiomic encyclopedia of the human pons provides a resource for normal development and disease vulnerability
2025Open Access
Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem.
PubMed·2025
Mapping MAVE data for use in human genomics applications
Genome biology·2025· 8 citedOpen Access
Curating gene alias relationships to resolve gene symbol ambiguity
Faculty of 1000 Research Ltd·2025Open Access
Integrating Pharmacogenomics into the Broader Construct of Genomic Medicine: Efforts by the ClinGen Pharmacogenomics Working Group (PGxWG)
Clinical Chemistry·2025· 11 citedOpen Access
HGVS Nomenclature 2024: improvements to community engagement, usability, and computability
Genome Medicine·2024· 34 citedOpen Access
HGVS Nomenclature 2024: Improvements to community engagement, usability, and computability.
2024Open Access
AI-readiness for Biomedical Data: Bridge2AI Recommendations
2024· 18 citedOpen Access
68. ClinGen Cancer Variant Interpretation (CVI): Updates and recommendations on the ClinGen/CGC/VICC Oncogenicity SOP
Cancer Genetics·2024
28. Addition of non-gene features to the CIViC data model
Cancer Genetics·2024
12. Contextualizing clinical significance using FDA label supplemented DGI data
Cancer Genetics·2024
54. Creation of a knowledgebase of high-quality assertions of the clinical actionability of somatic variants in cancer
Cancer Genetics·2024
26. Classifying the oncogenicity of 100 variants from pediatric cancer patients using a standardized assessment framework
Cancer Genetics·2024
10. Standardizing fusion calls in a computable format with FUSOR for downstream clinical assessment
Cancer Genetics·2024
65. Creating a common language for categorical variants
Cancer Genetics·2024· 1 cited
31. A cross-consortia initiative for aligning the definitions and descriptions of gene fusions
Cancer Genetics·2024
Minimum information and guidelines for reporting a multiplexed assay of variant effect
Genome biology·2024· 13 citedOpen Access
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Frequent Co-authors

Obi L. Griffith(27), Malachi Griffith(27), Kilannin Krysiak(15), Adam Coffman(14), Joshua F. McMichael(12), Elaine R. Mardis(11), Susanna Kiwala(10), Nicholas C. Spies(10), Arpad Danos(10), Zachary L. Skidmore(10), Katie M. Campbell(10), Kelsy C. Cotto(9), Benjamin J. Ainscough(9), Erica K. Barnell(9), Subha Madhavan(9), Damian Rieke(8), Jeremy L. Warner(8), Deborah Ritter(8), Gordana Raca(8), Melissa Haendel(8)