P607: Identification of pathogenic genetic variants using whole genome sequencing in patients with epilepsy

by Oleksandr Olifir, Claudia Moreau, Maxime Cadieux-Dion, Berge Minassian, Patrick Cossette, Simon Girard
Published 2024-01-01

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

by Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
Published 2018-03-01

Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cells.

by Sarah Pickles, Maxime Cadieux-Dion, Jorge I Alvarez, Marc-Andre Lécuyer, Sarah L Peyrard, Laurie Destroismaisons, Lydia St-Onge, Simone Terouz, Patrick Cossette, Alexandre Prat, Christine Vande Velde
Published 2013-01-01

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

by Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Ron G Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F Hamdan, Jacques L Michaud, Guy Rouleau, Berge A Minassian, Guillaume Bourque, Patrick Cossette
Published 2018-04-01

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

by 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 Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Sharif, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecilia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour
Published 2023-06-01