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Cadieux‐Dion, Maxime
43  results:
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1

Phenotypic expansion and variable expressivity in individua..:

Cadieux‐Dion, Maxime ; Farrow, Emily ; Thiffault, Isabelle...
Clinical Genetics.  102 (2022)  2 - p. 136-141 , 2022
Link: https://doi.org/10.1111/..
 
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2

Nager syndrome in patient lacking acrofacial dysostosis: Ex..:

Cadieux‐Dion, Maxime ; Hughes, Susan ; Engleman, Kendra..
American Journal of Medical Genetics Part A.  185 (2021)  5 - p. 1515-1518 , 2021
Link: https://doi.org/10.1002/..
 
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3

Delayed diagnosis of holocarboxylase synthetase deficiency ..:

Cadieux‐Dion, Maxime ; Gannon, Jennifer ; Newell, Brandon...
Pediatric Dermatology.  38 (2021)  3 - p. 655-658 , 2021
Link: https://doi.org/10.1111/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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