Author

Maria Kousi

Broad Institute

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 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:scRNA-seq· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

M KellisiD· 2 shared Ayşegül Ozantürk· 1 shared Azita SadeghpouriD· 1 shared Carles A. BoixiD· 1 shared Christopher A. CassaiD· 1 shared David Alan BennettiD· 1 shared Erica E. DavisiD· 1 shared Hansruedi MathysiD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersNeuroscience

M KellisORCID

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Author profile →

2 papers

Recent·Most cited

Single-cell mosaicism analysis reveals cell-type-specific somatic mutational burden in Alzheimer's Dementia

Maria Kousi, Carles A. Boix, Yongjin Park, Hansruedi Mathys, Samuel Sledzieski, Zhuyu Peng, David Alan Bennett, Li‐Huei Tsai, M Kellis

This study analyzes somatic mosaicism in Alzheimer's Dementia using single-cell data, finding increased mutational burden in specific cell types and genes associated with disease processes.

bioRxiv · Apr 21, 2022 · PreprintNeuroscience

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Maria Kousi, Onuralp Söylemez, Ayşegül Ozantürk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A. Cassa, Harrison Brand, Jill Anne Mokry, Maxim Y. Wolf, Azita Sadeghpour, Kelsey McFadden, Richard Alan Lewis, Michael E. Talkowski, , Nicholas Katsanis

The paper analyzes secondary-variant burden in BBS cohorts and finds enrichment of trans-acting rare nonsynonymous variants in chaperonin-encoding genes.

Nature Genetics · Oct 12, 2020Peer-reviewedGenetics