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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2 papers

Recent·Most cited

GeneticsActa Neuropathologica CommunicationsPeer-reviewedApr 8, 2022

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…·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.

22 citations

humanDNA methylation

𝕏 PostBluesky

GenomicsCellPeer-reviewedJan 1, 2018

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

Tatsiana Aneichyk, William T. J. Hendriks, Rachita Yadav…·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.

230 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky