Author

Patrick D. Villafria Mercado

Massachusetts General Hospital

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

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 Ayumi NishiyamaiD· 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

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