Author

Brigitte Demelo

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.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:mouse· 2 Research Focus:benchmarking· 1 Research Focus:drug response / drug discovery· 1

Frequent Co-Authors

Esaria OliveriD· 2 shared James F. GusellaiD· 2 shared Marcy E. MacDonald· 2 shared Marina V. KovalenkoiD· 2 shared Ricardo Mouro PintoiD· 2 shared Ryan MurthaiD· 2 shared Tammy GillisiD· 2 shared Vanessa Chantal WheeleriD· 2 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 44 mutual co-author links

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2 shared papersGenetics

Esaria OliverORCID

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2 papers

Recent·Most cited

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

Eunhye Lee, Wonju Kim, David H. Beier, Yejin Lee, Marina V. Kovalenko, Faaiza Saif, Esaria Oliver, Bhairavi Srinageshwar, Ryan Murtha, Marissa A Andrew, Andrew Jiang, Tammy Gillis, Brigitte Demelo, Jayla Ruliera, Diane E. Lucente, , Ihn Sik Seong

This paper investigates the protective effect of the LIG1 K845N variant in Huntington's disease by showing it increases ligase fidelity and suppresses somatic CAG repeat expansion.

Proceedings of the National Academy of Sciences · Mar 2, 2026Peer-reviewedGenetics

Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing

Ricardo Mouro Pinto, Ryan Murtha, António Azevedo, Cameron J. Douglas, Marina V. Kovalenko, Jessica Ulloa, Steven Crescenti, Zoe N. Burch, Esaria Oliver, Maheswaran Kesavan, Shota Shibata, Antonia G. Vitalo, Eduarda Mota‐Silva, Marion J. Riggs, Kevin Correia, , Vanessa Chantal Wheeler

The paper identifies genetic modifiers of Huntington's disease somatic CAG repeat instability using CRISPR-Cas9 in HD knock-in mice, revealing new therapeutic targets.

Nature Genetics · Jan 22, 2025Peer-reviewedGenetics