Author

Jillian S. Parboosingh

University of Calgary

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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Developmental Biology· 1 Molecular Biology· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Allan Micheil InnesiD· 2 shared François P. BernieriD· 2 shared Ryan E. LamontiD· 2 shared Adam J. Cornish· 1 shared Amanda V. Tyndall· 1 shared Caitlin Goedhart· 1 shared Claudia VivoriiD· 1 shared Danielle BlackwelliD· 1 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersDevelopmental Biology

Allan Micheil InnesORCID

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2 papers

Recent·Most cited

Hnrnpul1 loss of function affects skeletal and limb development

Danielle Blackwell, Sherri D. Fraser, Oana Caluseriu, Claudia Vivori, Amanda V. Tyndall, Ryan E. Lamont, Jillian S. Parboosingh, Allan Micheil Innes, François P. Bernier, Sarah J. Childs

This study shows Hnrnpul1 loss of function in zebrafish causes skeletal and limb defects and links it to human congenital limb malformations.

G3 Genes Genomes Genetics · Mar 23, 2022Peer-reviewedDevelopmental Biology

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts and white matter changes

Tian Zhao, Caitlin Goedhart, Pingdewinde N. Sam, Rasha Sabouny, Susanne Lingrell, Adam J. Cornish, Ryan E. Lamont, François P. Bernier, David S. Sinasac, Jillian S. Parboosingh, Jean E. Vance, Steven Michael Claypool, Allan Micheil Innes, Timothy E. Shutt

The paper identifies PISD as a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes through exome sequencing and functional analysis of patient fibroblasts.

Life Science Alliance · Mar 11, 2019Peer-reviewedMolecular Biology