Author

C DeGuzman

University of British Columbia

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

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anita DattaiD· 1 shared Aspasia Michoulas· 1 shared Bruce BjörnsoniD· 1 shared Clara van KarnebeekiD· 1 shared Corneliu BolboceaniD· 1 shared Cyrus G. BoelmaniD· 1 shared Daniel M. EvansiD· 1 shared Elena Lopez‐RangeliD· 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 paperGenetics

Anita DattaORCID

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1 paper

Recent·Most cited

Diagnostic Yield And Treatment Impact Of Targeted Exome Sequencing In Early-Onset Epilepsy

Michelle K. Demos, Ilaria Guella, C DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus G. Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn A. Selby, Bruce Björnson, Gabriella Ana Horvath, Elena Lopez‐Rangel, , Matthew James Farrer

This study evaluates the diagnostic yield and treatment impact of targeted whole-exome sequencing in early-onset epilepsy, finding a 34% diagnostic rate with faster diagnosis and cost savings when used early.

Frontiers in Neurology · May 21, 2019Peer-reviewedGenetics