Author

Marie Zikánová

Charles UniversityORCID 0000-0002-9375-800XUnclaimed 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

Václava ŠkopováiD· 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

Václava ŠkopováORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Mechanistic Modelling of Recessive Disease through Allelic Integration of Variant Effects

Hasan Çubuk, Marcin Plech, Vahid Aslanzadeh, Marie Zikánová, Václava Škopová, Stanislav Kmoch, Yuxin Shen, Joseph A. Marsh, 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.

bioRxiv · Aug 15, 2025 · PreprintGenetics

SAICAr-dependent and independent effects of ADSL deficiency on neurodevelopment

Ilaria Dutto, Julian Gerhards, Antonio Herrera, Olga Souckova, Václava Škopová, Jordann A Smak, Alexandra Junza, Óscar Yanes, Cedric A. Boeckx, Martin D. Burkhalter, Marie Zikánová, Sebastián Pons, Melanie Philipp, Jens Lüders, 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.

eLife · Feb 8, 2022Peer-reviewedDevelopmental Biology