Author

Nadieh A. Jansen

Radboud University Medical Center

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Assay:DNA methylation· 1 Organism:human· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Aglaia VignoliiD· 1 shared Alexander J.M. DingemansiD· 1 shared Alfredo BruscoiD· 1 shared Alice MoroniiD· 1 shared Angela PeroniD· 1 shared Angela Tamsin MorganiD· 1 shared Arianna Vino· 1 shared Bert B A De VriesiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aglaia VignoliORCID

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1 paper

Recent·Most cited

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

Maggie M. K. Wong, Rosalie A. Kampen, Ruth O. Braden, Gökberk Alagöz, Michael S. Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert B A De Vries, Alexander J.M. Dingemans, Frances Elmslie, Giovanni Battista Ferrero, Nadieh A. Jansen, Ingrid M.B.H. van de Laar, , Simon E. Fisher

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

medRxiv · Mar 4, 2022 · PreprintGenetic & Genomic Medicine