Author

Amy Southern

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.

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Genetics· 1

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Approach:experimental assay· 1 Organism:mouse· 1

Frequent Co-Authors

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 Heena Vanmalibhai LadiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Andrew Parker

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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