Author

Mariya Kozenko

McMaster Children's 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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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:gene regulatory network inference· 1 Organism:zebrafish· 1

Frequent Co-Authors

Lauren BrickiD· 2 shared A. Gulhan Ercan‐SencicekiD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alejandro D. IglesiasiD· 1 shared Alice S. BrooksiD· 1 shared Amber Hogart BegtrupiD· 1 shared Amna Mohammed Al-FutaisiiD· 1 shared Andrew A. HardiganiD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Lauren BrickORCID

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2 papers

Recent·Most cited

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M. Berdowski, Maysoon Alsagob, Ivan Čapo, Herma C. van der Linde, Paul van den Berg, Edwin H. Jacobs, Darija Putar, Mehrnaz Ghazvini, Eleonora Aronica, Wilfred F. J. van IJcken, Walter G. de Valk, Evita Medici-van den Herik, , Tahsin Stefan Barakat

The paper identifies a recurrent start codon mutation in UGP2 causing a severe epileptic encephalopathy, showing that isoform-specific expression loss of an essential gene can lead to disease.

Acta Neuropathologica · Dec 9, 2019Peer-reviewedGenetics

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Susan M. Hiatt, Matthew B. Neu, Ryne C. Ramaker, Andrew A. Hardigan, Jeremy W. Prokop, Miroslava Hančárová, Darina Prchalová, Markéta Havlovičová, Jan Prchal, Viktor Stránecký, Dwight K. C. Yim, Zöe Powis, Boris Keren, Caroline Nava, Cyril Mignot, , Gregory M. Cooper

The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.

PLoS Genetics · Nov 30, 2018Peer-reviewedGenetics