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American Journal of Medical Genetics. Part A|February 9, 2021
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related diseaseMaxime Cadieux-Dion, Susan Hughes, Kendra Engleman, et al.
Human Mutation|October 13, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencingIsabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, et al.
Pediatric Dermatology|April 19, 2021
Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findingsMaxime Cadieux-Dion, Jennifer Gannon, Brandon Newell, et al.
BMC Medical Genetics|March 11, 2018
Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case reportMaxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, et al.
JAMA Neurology|February 26, 2014
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermiaMaxime Cadieux-Dion, Maude Turcotte-Gauthier, Anne Noreau, et al.
Plos One|September 11, 2013
Endo-MitoEGFP mice: a novel transgenic mouse with fluorescently marked mitochondria in microvascular endothelial cellsSarah Pickles, Maxime Cadieux-Dion, Jorge I Alvarez, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|June 16, 2020
Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular EpilepsyMaxime Cadieux-Dion, Simone Meneghini, Chiara Villa, et al.
Clinical Genetics|May 9, 2022
Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case seriesMaxime Cadieux-Dion, Emily Farrow, Isabelle Thiffault, et al.
Human Molecular Genetics|August 20, 2013
SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowthAnna Corradi, Manuela Fadda, Amélie Piton, et al.
European Journal of Human Genetics : EJHG|January 11, 2020
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencingIvana Jedličková, Maxime Cadieux-Dion, Anna Přistoupilová, et al.
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