Author

Tomma Gloystein

University of Copenhagen

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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Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Aishat O. AmeeniD· 1 shared Aleksandra PanfilovaiD· 1 shared Amelie SteiniD· 1 shared Claudia WeidlingiD· 1 shared H. Harms· 1 shared Han Chow ChuaiD· 1 shared Stephan Alexander PlessiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

7 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Aishat O. AmeenORCID

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1 paper

Recent·Most cited

Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN

Claudia Weidling, H. Harms, Aishat O. Ameen, Aleksandra Panfilova, Tomma Gloystein, Amelie Stein, Han Chow Chua, Stephan Alexander Pless

The paper establishes a framework to assess NALCN variant pathogenicity using functional and computational methods, distinguishing benign from gain- and loss-of-function variants.

bioRxiv · Sep 15, 2025 · PreprintGenetics