Author

Lisa van Voorthuijsen

Radboud University NijmegenORCID 0000-0003-4822-185XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ali OghabianiD· 1 shared Bas de WolfiD· 1 shared ‎Berend SneliD· 1 shared Bertrand IsidoriD· 1 shared Eelco C. TromeriD· 1 shared Esther C. H. UijttewaaliD· 1 shared Geert J.P.L. KopsiD· 1 shared Jens VerbeereniD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Ali OghabianORCID

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1 paper

Recent·Most cited

Molecular BiologybioRxivPreprintAug 6, 2020

Chromosomal instability by mutations in a novel specificity factor of the minor spliceosome

Bas de Wolf, Ali Oghabian, Maureen V. Akinyi…·Geert J.P.L. Kops

The paper identifies biallelic mutations in CENATAC as a cause of constitutional aneuploidy by disrupting minor intron splicing and causing chromosome segregation errors.

1 citation

humanwhole-exome sequencing

𝕏 PostBluesky