Author

Ruben van ‘t Slot

University Medical Center UtrechtORCID 0000-0002-0952-0139Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Assay:GWAS summary statistics· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Organism:zebrafish· 1

Frequent Co-Authors

Bobby P.C. KoelemaniD· 2 shared Kees P. J. BrauniD· 2 shared Irina VetteriD· 1 shared Linda VolkersiD· 1 shared M. Martijn PietiD· 1 shared Marco C. Inserra· 1 shared Marjolein BosmaiD· 1 shared Martin B. Rook· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Bobby P.C. KoelemanORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineEpilepsiaPeer-reviewedNov 14, 2025

Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background

Remi Stevelink, M. Martijn Piet, Yorgos Bos…·Bobby P.C. Koeleman

The paper estimates low penetrance of pathogenic epilepsy variants and shows common genetic background modifies risk.

8 citationstop 4%

humanGWAS summary statistics

𝕏 PostBluesky

GeneticsPLoS ONEPeer-reviewedMar 5, 2020

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype in a novel zebrafish model for Dravet Syndrome

Wout J. Weuring, Sakshi Singh, Linda Volkers…·Bobby P.C. Koeleman

This study develops a zebrafish model for Dravet Syndrome and tests compounds that selectively target Nav1.1 or Nav1.6 channels, showing both reduce seizure-like behavior.

46 citationstop 3%

zebrafishexperimental assay

𝕏 PostBluesky