Alex H Wagner
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Explore the profile of Alex H Wagner including associated specialties, affiliations and a list of published articles.
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46
Citations
2562
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Recent Articles
1.
Dawood M, Heavner B, Wheeler M, Ungar R, LoTempio J, Wiel L, et al.
ArXiv
. 2025 Jan;
PMID: 39764392
Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing,...
2.
Hart R, Fokkema I, DiStefano M, Hastings R, Laros J, Taylor R, et al.
Genome Med
. 2024 Dec;
16(1):149.
PMID: 39702242
Background: The Human Genome Variation Society (HGVS) Nomenclature is the global standard for describing and communicating variants in DNA, RNA, and protein sequences in clinical and research genomics. This manuscript...
3.
Arbesfeld J, Da E, Stevenson J, Kuzma K, Paul A, Farris T, et al.
bioRxiv
. 2024 Jul;
PMID: 38979347
The large-scale experimental measures of variant functional assays submitted to MaveDB have the potential to provide key information for resolving variants of uncertain significance, but the reporting of results relative...
4.
Claussnitzer M, Parikh V, Wagner A, Arbesfeld J, Bult C, Firth H, et al.
Genome Biol
. 2024 Apr;
25(1):100.
PMID: 38641812
Multiplexed assays of variant effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques...
5.
Cannon M, Stevenson J, Kuzma K, Kiwala S, Warner J, Griffith O, et al.
JAMIA Open
. 2023 Nov;
6(4):ooad093.
PMID: 37954974
Objective: The diversity of nomenclature and naming strategies makes therapeutic terminology difficult to manage and harmonize. As the number and complexity of available therapeutic ontologies continues to increase, the need...
6.
Cannon M, Stevenson J, Stahl K, Basu R, Coffman A, Kiwala S, et al.
Nucleic Acids Res
. 2023 Nov;
52(D1):D1227-D1235.
PMID: 37953380
The Drug-Gene Interaction Database (DGIdb, https://dgidb.org) is a publicly accessible resource that aggregates genes or gene products, drugs and drug-gene interaction records to drive hypothesis generation and discovery for clinicians...
7.
Claussnitzer M, Parikh V, Wagner A, Arbesfeld J, Bult C, Firth H, et al.
ArXiv
. 2023 Jul;
PMID: 37426450
Multiplexed Assays of Variant Effect (MAVEs) have emerged as a powerful approach for interrogating thousands of genetic variants in a single experiment. The flexibility and widespread adoption of these techniques...
8.
Danis D, Jacobsen J, Wagner A, Groza T, Beckwith M, Rekerle L, et al.
PLoS One
. 2023 May;
18(5):e0285433.
PMID: 37196000
The Global Alliance for Genomics and Health (GA4GH) is a standards-setting organization that is developing a suite of coordinated standards for genomics. The GA4GH Phenopacket Schema is a standard for...
9.
Ladewig M, Jacobsen J, Wagner A, Danis D, El Kassaby B, Gargano M, et al.
Adv Genet (Hoboken)
. 2023 Mar;
4(1):2200016.
PMID: 36910590
The Global Alliance for Genomics and Health (GA4GH) is developing a suite of coordinated standards for genomics for healthcare. The Phenopacket is a new GA4GH standard for sharing disease and...
10.
Dalton K, Rehm H, Wright M, Mandell M, Krysiak K, Babb L, et al.
Pac Symp Biocomput
. 2022 Dec;
28:531-535.
PMID: 36541006
The Clinical Genome Resource (ClinGen) serves as an authoritative resource on the clinical relevance of genes and variants. In order to support our curation activities and to disseminate our findings...