Author

Holly J. Thorpe

University of UtahORCID 0000-0003-2136-0235Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Organism:Drosophila· 3 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Clement Y. ChowiD· 3 shared Aaron R. QuinlaniD· 1 shared Ashley E. ThomasiD· 1 shared Brent S. PederseniD· 1 shared Emily Coelho· 1 shared Jordan LittleiD· 1 shared Joshua L. BonkowskyiD· 1 shared Katie G OwingsiD· 1 shared

Activity by Year

2023-2024 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 22 mutual co-author links

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3 shared papersGenetics

Clement Y. ChowORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Evolutionary rate covariation is pervasive between glycosylation pathways and points to potential disease modifiers

Holly J. Thorpe, Raghavendran Partha, Jordan Little, Nathan L Clark, Clement Y. Chow

The paper identifies potential genetic modifiers of Congenital Disorders of Glycosylation (CDG) using evolutionary rate covariation analysis across glycosylation pathways and other biological processes.

PLoS Genetics · Sep 11, 2024Peer-reviewedGenetics

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila

Holly J. Thorpe, Brent S. Pedersen, Miranda Dietze, Nichole Link, Aaron R. Quinlan, Joshua L. Bonkowsky, Ashley E. Thomas, Clement Y. Chow

bioRxiv · Aug 12, 2024 · PreprintGenetics

Drosophila models of PIGA-CDG mirror patient phenotypes

Holly J. Thorpe, Katie G Owings, Miriam C. Aziz, Madelyn Haller, Emily Coelho, Clement Y. Chow

This paper develops a Drosophila model of PIGA-CDG that recapitulates patient phenotypes, including seizures and movement disorders, and identifies cell-type-specific molecular changes.

bioRxiv · Oct 27, 2023 · PreprintGenetics