Author

Ayumi Nishiyama

Massachusetts General HospitalORCID 0000-0002-5229-4296Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Assay:bulk RNA-seq· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alan Mejia MazaiD· 1 shared Aloysius DomingoiD· 1 shared Cara Fernandez‐Cerado· 1 shared Cid Czarina E. DiestaiD· 1 shared Criscely L. Go· 1 shared D. Cristopher BraggiD· 1 shared Ean P. Norenberg· 1 shared Edwin L. Muñoz· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alan Mejia MazaORCID

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1 paper

Recent·Most cited

MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism

Alan Mejia Maza, Madison Hincher, Kevin Correia, Tammy Gillis, Ayumi Nishiyama, Ellen B. Penney, Aloysius Domingo, Rachita Yadav, Micaela G. Murcar, Patrick D. Villafria Mercado, Justin S. Han, Ean P. Norenberg, Cara Fernandez‐Cerado, G. Paul Legarda, Michelle Ann C. Sy, , Vanessa Chantal Wheeler

This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.

bioRxiv · May 14, 2025 · PreprintGenetics