Author

David R. Mowat

UNSW SydneyORCID 0000-0002-3730-0870Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

Genetic & Genomic MedicinemedRxivPreprintMar 4, 2022

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…·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.

6 citations

humanDNA methylation

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