Author

Bas de Wolf

Oncode InstituteORCID 0000-0002-1341-3555Unclaimed 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 ‎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 Jolien J. E. van HooffiD· 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

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

Bas de Wolf, Ali Oghabian, Maureen V. Akinyi, Sandra Hanks, Eelco C. Tromer, Jolien J. E. van Hooff, Lisa van Voorthuijsen, Laura E. van Rooijen, Jens Verbeeren, Esther C. H. Uijttewaal, Marijke P. A. Baltissen, Shawn E. Yost, Philippe Piloquet, Michiel Vermeulen, ‎Berend Snel, , 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.

bioRxiv · Aug 6, 2020 · PreprintMolecular Biology