Author

Amanda Koloskee

Emory University

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

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Anuj MankadiD· 1 shared Azeez ButaliiD· 1 shared Azeez Fashina· 1 shared Brooklynn Gasser· 1 shared Carmen J. BuxóiD· 1 shared Daryl A. ScottiD· 1 shared David J. CutleriD· 1 shared Dorelle V. FawwaliD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anuj MankadORCID

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1 paper

Recent·Most cited

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

Kelsey R. Robinson, Sunil Kumar Singh, Rachel B Walkup, Dorelle V. Fawwal, Kendra Vilfort, Amanda Koloskee, Azeez Fashina, Wasiu Lanre Adeyemo, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, Wendy K. Chung, David J. Cutler, Michael P. Epstein, Brooklynn Gasser, , Elizabeth J. Leslie

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

The American Journal of Human Genetics · Sep 2, 2025Peer-reviewedGenetic & Genomic Medicine