Author

David S. Sinasac

University of CalgaryORCID 0000-0002-3749-5989Unclaimed 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· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam J. Cornish· 1 shared Allan Micheil InnesiD· 1 shared Caitlin Goedhart· 1 shared François P. BernieriD· 1 shared Jean E. Vance· 1 shared Jillian S. Parboosingh· 1 shared Pingdewinde N. Sam· 1 shared Rasha SabounyiD· 1 shared

Activity by Year

2019-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Adam J. Cornish

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1 paper

Recent·Most cited

Molecular BiologyLife Science AlliancePeer-reviewedMar 11, 2019

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

Tian Zhao, Caitlin Goedhart, Pingdewinde N. Sam…·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.

69 citations

humanwhole-exome sequencing

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