Author

Lauren Brick

McMaster Children's HospitalORCID 0000-0001-5586-0284Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

Mariya Kozenko· 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

Mariya Kozenko

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2 papers

Recent·Most cited

GeneticsActa NeuropathologicaPeer-reviewedDec 9, 2019

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…·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.

70 citationstop 3%

humanzebrafish

𝕏 PostBluesky

GeneticsPLoS GeneticsPeer-reviewedNov 30, 2018

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…·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.

35 citations

humanwhole-exome sequencing

𝕏 PostBluesky