Author

Carol J. Gallione

Duke University

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Douglas A. MarchukiD· 2 shared Catherine A. Neilson· 1 shared Christian R. BenavidesiD· 1 shared Daniel A. SnellingsiD· 1 shared Dewi S. ClarkiD· 1 shared Dongdong ZhangiD· 1 shared Erin GriffiniD· 1 shared Issam A. AwadiD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Douglas A. MarchukORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintFeb 12, 2020

Novel hemorrhage models of cerebral cavernous malformations

Matthew R. Detter, Robert Shenkar, Christian R. Benavides…·Douglas A. Marchuk

This paper develops new mouse models of cerebral cavernous malformations (CCMs) to better study drug therapies for CCM formation and hemorrhage.

5 citations

mouseexperimental assay

𝕏 PostBluesky

GeneticsThe American Journal of Human GeneticsPeer-reviewedOct 17, 2019

Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Biallelic Loss of ENG or ACVRL1

Daniel A. Snellings, Carol J. Gallione, Dewi S. Clark…·Douglas A. Marchuk

The paper identifies biallelic loss of ENG or ACVRL1 through somatic mutations in HHT-related telangiectasia, supporting a two-hit mechanism over haploinsufficiency.

134 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky