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Cadieux-Dion, Maxime
45
results:
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Online (45)
Mediatypes
Articles (Online) (21)
OpenAccess-fulltext (24)
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1
P607: Identification of pathogenic genetic variants using w..:
Olifir, Oleksandr
;
Moreau, Claudia
;
Cadieux-Dion, Maxime
...
Genetics in Medicine Open. 2 (2024) - p. 101513 , 2024
Link:
https://doi.org/10.1016/..
?
2
IFT74 variants cause skeletal ciliopathy and motile cilia d..:
Bakey, Zeineb
;
Cabrera, Oscar A.
;
Hoefele, Julia
...
PLOS Genetics. 19 (2023) 6 - p. e1010796 , 2023
Link:
https://doi.org/10.1371/..
?
3
Clinical Validation of Genome Reference Consortium Human Bu..:
Lansdon, Lisa A
;
Cadieux-Dion, Maxime
;
Herriges, John C
...
Clinical Chemistry. 68 (2022) 9 - p. 1177-1183 , 2022
Link:
https://doi.org/10.1093/..
?
4
Phenotypic characterization of JARID2-related intellectual ..:
Cadieux-Dion, Maxime
;
Farrow, Emily
;
Welsh, Holly
...
Molecular Genetics and Metabolism. 132 (2021) - p. S282 , 2021
Link:
https://doi.org/10.1016/..
?
5
Next-generation sequencing identifies unexpected high frequ..:
Thiffault, Isabelle
;
Farrow, Emily
;
Cadieux-Dion, Maxime
...
Molecular Genetics and Metabolism. 132 (2021) - p. S267 , 2021
Link:
https://doi.org/10.1016/..
?
6
Many clinical laboratories performing next-generation seque..:
Lansdon, Lisa
;
Cadieux-Dion, Maxime
;
Yoo, Byunggil
...
Molecular Genetics and Metabolism. 132 (2021) - p. S252 , 2021
Link:
https://doi.org/10.1016/..
?
7
Variants in CHRNB2 and CHRNA4 Identified in Patients with I..:
Cadieux-Dion, Maxime
;
Meneghini, Simone
;
Villa, Chiara
...
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 47 (2020) 6 - p. 800-809 , 2020
Link:
https://doi.org/10.1017/..
?
8
Autosomal-dominant adult neuronal ceroid lipofuscinosis cau..:
The Adult NCL Gene Discovery Consortium
;
Jedličková, Ivana
;
Cadieux-Dion, Maxime
...
European Journal of Human Genetics. 28 (2020) 6 - p. 783-789 , 2020
Link:
https://doi.org/10.1038/..
?
9
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable..:
Fischer-Zirnsak, Björn
;
Segebrecht, Lara
;
Schubach, Max
...
The American Journal of Human Genetics. 105 (2019) 3 - p. 631-639 , 2019
Link:
https://doi.org/10.1016/..
?
10
Novel heterozygous pathogenic variants in CHUK in a patient..:
Cadieux-Dion, Maxime
;
Safina, Nicole P.
;
Engleman, Kendra
...
BMC Medical Genetics. 19 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
11
Global characterization of copy number variants in epilepsy..:
Monlong, Jean
;
Girard, Simon L.
;
Meloche, Caroline
...
PLOS Genetics. 14 (2018) 4 - p. e1007285 , 2018
Link:
https://doi.org/10.1371/..
?
12
Coming up to Speed on Whole Genome Sequencing in Critically..:
Thiffault, Isabelle
;
Farrow, Emily
;
Cadieux-Dion, Maxime
.
Advances in Molecular Pathology. 1 (2018) 1 - p. 1-8 , 2018
Link:
https://doi.org/10.1016/..
?
13
High Rate of Recurrent De Novo Mutations in Developmental a..:
Hamdan, Fadi F.
;
Myers, Candace T.
;
Cossette, Patrick
...
The American Journal of Human Genetics. 101 (2017) 5 - p. 664-685 , 2017
Link:
https://doi.org/10.1016/..
?
14
Diagnosis and misdiagnosis of adult neuronal ceroid lipofus..:
Berkovic, Samuel F.
;
Staropoli, John F.
;
Carpenter, Stirling
...
Neurology. 87 (2016) 6 - p. 579-584 , 2016
Link:
https://doi.org/10.1212/..
?
15
Endo-MitoEGFP Mice: A Novel Transgenic Mouse with Fluoresce..:
Pickles, Sarah
;
Cadieux-Dion, Maxime
;
Alvarez, Jorge I.
...
PLoS ONE. 8 (2013) 9 - p. e74603 , 2013
Link:
https://doi.org/10.1371/..
1-15