Author

Václava Škopová

Charles UniversityORCID 0000-0002-6560-4177Unclaimed ORCID profile · follow to get notified of new preprints

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 effect prediction· 1 Organism:yeast· 1 Organism:zebrafish· 1

Frequent Co-Authors

Marie ZikánováiD· 2 shared Alexandra JunzaiD· 1 shared Antonio HerreraiD· 1 shared Cedric A. BoeckxiD· 1 shared Grzegorz R. KudlaiD· 1 shared Hasan ÇubukiD· 1 shared Ilaria Dutto· 1 shared Jens LüdersiD· 1 shared

Activity by Year

2022-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Marie ZikánováORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintAug 15, 2025

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

Hasan Çubuk, Marcin Plech, Vahid Aslanzadeh…·Grzegorz R. Kudla

The paper develops a method to estimate enzymatic activities from genetic variants using fitness assays and combines allele effects to predict pathogenicity in recessive diseases.

1 citation

yeaststatistical model

𝕏 PostBluesky

Developmental BiologyeLifePeer-reviewedFeb 8, 2022

SAICAr-dependent and independent effects of ADSL deficiency on neurodevelopment

Ilaria Dutto, Julian Gerhards, Antonio Herrera…·Travis H. Stracker

This study investigates the effects of ADSL deficiency on neurodevelopment, showing both SAICAr-dependent and independent mechanisms contributing to pathologies like microcephaly and autism.

27 citations

humanzebrafish

𝕏 PostBluesky