Author

Patrick J. Acuña

Harvard University

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· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Assay:DNA methylation· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Criscely L. Go· 2 shared D. Cristopher BraggiD· 2 shared Ellen B. PenneyiD· 2 shared Laurie J. OzeliusiD· 2 shared Nutan SharmaiD· 2 shared Rachita YadaviD· 2 shared Trisha Multhaupt‐Buell· 2 shared Alan Mejia MazaiD· 1 shared

Activity by Year

2018-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 43 mutual co-author links

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2 shared papersGenetics

Criscely L. Go

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Author profile →

2 papers

Recent·Most cited

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez‐Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, John Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt‐Buell, Gabrielle Aldykiewicz, , Vanessa Chantal Wheeler

The paper analyzes somatic instability of the CCCTCT repeat in XDP and finds repeat length-dependent expansion in brain regions, with regional patterns and similarities to HTT CAG repeat instability.

Acta Neuropathologica Communications · Apr 8, 2022Peer-reviewedGenetics

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

Tatsiana Aneichyk, William T. J. Hendriks, Rachita Yadav, David S. Shin, Dadi Gao, Christine A. Vaine, Ryan L. Collins, Aloysius Domingo, Benjamin Currall, Alexei Stortchevoi, Trisha Multhaupt‐Buell, Ellen B. Penney, Lilian Cruz, Jyotsna Dhakal, Harrison Brand, , Michael E. Talkowski

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.

Cell · Jan 1, 2018Peer-reviewedGenomics