Author

Maxime Cadieux‐Dion

Children's Mercy HospitalORCID 0000-0002-3167-9904Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:experimental assay· 1 Organism:mouse· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abigail O. SmithiD· 1 shared Alexandre Dionne‐Laporte· 1 shared Berge Arakel MinassianiD· 1 shared Beyhan TüysüziD· 1 shared Caroline Meloche· 1 shared Cecilia W. Y. LoiD· 1 shared Cyrus G. BoelmaniD· 1 shared Dan SpiegelmaniD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abigail O. SmithORCID

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2 papers

Recent·Most cited

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

Zeineb Bakey, Oscar A. Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W. Stuck, Dimitra Micha, Thibaut Eguether, Abigail O. Smith, Nicole N. van der Wel, Matias Wagner, Lara I. Strittmatter, Philip L. Beales, Julie A. Jonassen, Isabelle Thiffault, , Gregory J. Pazour

This study identifies IFT74 variants causing skeletal ciliopathy and motile cilia defects in humans and mice, revealing functional differences between motile and primary cilia.

PLoS Genetics · Jun 14, 2023Peer-reviewedGenetic & Genomic Medicine

Global characterization of copy number variants in epilepsy patients from whole genome sequencing

Jean Monlong, Simon Girard, Caroline Meloche, Maxime Cadieux‐Dion, Danielle Molinari Andrade, Ron G. Lafrenière, Micheline Gravel, Dan Spiegelman, Alexandre Dionne‐Laporte, Cyrus G. Boelman, Fadi F. Hamdan, Jacques L. Michaud, Guy Armand Rouleau, Berge Arakel Minassian, Guillaume Bourque, Patrick Cossette

This study uses whole-genome sequencing and a new algorithm to comprehensively characterize copy number variants in epilepsy patients and controls, finding enrichment of rare exonic and non-coding variants.

PLoS Genetics · Apr 12, 2018Peer-reviewedGenomics