Author

Ilaria Guella

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· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Matthew James FarreriD· 2 shared Anita DattaiD· 1 shared Aspasia Michoulas· 1 shared Austen J. MilnerwoodiD· 1 shared Bruce BjörnsoniD· 1 shared C DeGuzman· 1 shared Clara van KarnebeekiD· 1 shared Corneliu BolboceaniD· 1 shared

Activity by Year

2017-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Matthew James FarrerORCID

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2 papers

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

TMEM230 is not a gene for Parkinson disease

Matthew James Farrer, Austen J. Milnerwood, Jordan Follett, Ilaria Guella

The paper refutes the claim that TMEM230 c.422G>T is a causative mutation for Parkinson disease by showing it is not present in affected family members.

bioRxiv · Jan 1, 2017 · PreprintGenetics