Author

Jolien Roovers

University of AntwerpORCID 0000-0002-8599-1792Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Adam FrankishiD· 1 shared Alba Sanchis‐JuaniD· 1 shared Anne Fabienne LepineiD· 1 shared Anthony S. RogersiD· 1 shared Barbara Uszczyńska-RatajczakiD· 1 shared Berge Arakel MinassianiD· 1 shared Berten CeulemansiD· 1 shared Caroline NavaiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenomics

Adam FrankishORCID

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1 paper

Recent·Most cited

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

Charles A. Steward, Jolien Roovers, Marie‐Marthe Suner, José M. González, Barbara Uszczyńska-Ratajczak, Dmitri Davidovich Pervouchine, Stephen F. Fitzgerald, Margarida Viola, Hannah Stamberger, Fadi F. Hamdan, Berten Ceulemans, Patricia Leroy, Caroline Nava, Anne Fabienne Lepine, Electra Tapanari, , Adam Frankish

The paper updates gene annotations for 191 epilepsy genes, reclassifying variants and identifying new de novo SCN1A variants in Dravet syndrome patients.

bioRxiv · May 30, 2019 · PreprintGenomics