Author

Philomena Mburu

Mary Lyon Centre at MRC Harwell

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

Biology Disciplines

Click to filter author papers

Genetics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

Amy Southern· 1 shared Andrew Parker· 1 shared Brian William HerrmanniD· 1 shared Debbie J. Williams· 1 shared Dominic P. NorrisiD· 1 shared Dorota Gibbins· 1 shared Elizabeth FisheriD· 1 shared Eva Lana‐ElolaiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Amy Southern

Mutual co-authors in cluster

Author profile →

1 paper

Recent·Most cited

DYRK1A kinase triplication is the major cause of Otitis Media in Down Syndrome

Hilda Tateossian, Amy Southern, Pratik P. Vikhe, Eva Lana‐Elola, Sheona Watson-Scales, Dorota Gibbins, Debbie J. Williams, Thomas Purnell, Philomena Mburu, Andrew Parker, Dominic P. Norris, Regie Lyn P. Santos‐Cortez, Brian William Herrmann, Sara E. Wells, Heena Vanmalibhai Lad, , Steve D. M. Brown

The paper identifies DYRK1A triplication as the major cause of otitis media in Down syndrome by using mouse models and shows that normalizing its dosage restores the wild-type phenotype.

bioRxiv · Oct 3, 2024 · PreprintGenetics