Author

Aishat O. Ameen

University of CopenhagenORCID 0000-0001-8235-9807Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

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 Tomma Gloystein· 1 shared

Activity by Year

2025-2025 · peak 1/yr

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7 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Aleksandra PanfilovaORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintSep 15, 2025

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

Claudia Weidling, H. Harms, Aishat O. Ameen…·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.

DOI 10.1101/2025.09.15.676065

humanstatistical model

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