Author

Carrie Hanscom

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

Frequent Co-Authors

Michael E. TalkowskiiD· 2 shared Alexei StortchevoiiD· 1 shared Aloysius DomingoiD· 1 shared Amy J. MacQueeniD· 1 shared Ashok RagavendraniD· 1 shared Benjamin CurralliD· 1 shared Brian J. WaingeriD· 1 shared Caroline W. Antolik· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Michael E. TalkowskiORCID

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2 papers

Recent·Most cited

SYCP2 translocation-mediated dysregulation and frameshift variants cause human male infertility

Samantha L.P. Schilit, Shreya Menon, Corinna Friedrich, Tammy Kammin, Ellen Wilch, Carrie Hanscom, Sizun Jiang, Sabine Kliesch, Michael E. Talkowski, Frank Tüttelmann, Amy J. MacQueen, Cynthia Casson Morton

This study identifies SYCP2 translocation and frameshift variants as causes of male infertility through genetic analysis and functional modeling in yeast.

The American Journal of Human Genetics · Dec 19, 2019Peer-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