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Sébastien Chénier
Sébastien Chénier
Université de Sherbrookre
Verified email at usherbrooke.ca
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Cited by
Cited by
Year
P heno t ips: Patient phenotyping software for clinical and research use
M Girdea, S Dumitriu, M Fiume, S Bowdin, KM Boycott, S Chénier, ...
Human mutation 34 (8), 1057-1065, 2013
2452013
Phosphorylation-independent desensitization of GABAB receptor by GRK4
J Perroy, L Adam, R Qanbar, S Chénier, M Bouvier
The EMBO journal 22 (15), 3816-3824, 2003
1482003
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems
S Chénier, G Yoon, B Argiropoulos, J Lauzon, R Laframboise, JW Ahn, ...
Journal of neurodevelopmental disorders 6, 1-9, 2014
962014
Family‐based genetic association study of DLGAP3 in Tourette Syndrome
J Crane, J Fagerness, L Osiecki, B Gunnell, SE Stewart, DL Pauls, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011
822011
Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome
JM Milunsky, TM Maher, G Zhao, Z Wang, JB Mulliken, D Chitayat, ...
American Journal of Medical Genetics Part A 155 (1), 22-32, 2011
732011
Subcellular distribution of GABAB receptor homo- and hetero-dimers
JF Villemure, L Adam, NJ Bevan, K Gearing, S Chénier, M Bouvier
Biochemical Journal 388 (1), 47-55, 2005
652005
Interstitial deletion of 11q‐implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome
A Guerin, DJ Stavropoulos, Y Diab, S Chénier, H Christensen, WHA Kahr, ...
American Journal of Medical Genetics Part A 158 (10), 2551-2556, 2012
552012
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
T Tucker, A Montpetit, D Chai, S Chan, S Chénier, BP Coe, A Delaney, ...
BMC medical genomics 4, 1-10, 2011
512011
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
S Lévesque, C Auray-Blais, E Gravel, M Boutin, L Dempsey-Nunez, ...
Orphanet Journal of Rare Diseases 11, 1-10, 2016
492016
Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype
E Cannaerts, M Kempers, A Maugeri, C Marcelis, T Gardeitchik, J Richer, ...
Journal of Medical Genetics 56 (4), 220-227, 2019
382019
Successful in vitro maturation of oocytes in a woman with gonadotropin-resistant ovary syndrome associated with a novel combination of FSH receptor gene variants: a case report
C Flageole, C Toufaily, DJ Bernard, S Ates, V Blais, S Chénier, ...
Journal of Assisted Reproduction and Genetics 36, 425-432, 2019
242019
Clinical validity of phenotype-driven analysis software PhenoVar as a diagnostic aid for clinical geneticists in the interpretation of whole-exome sequencing data
F Thuriot, C Buote, E Gravel, S Chénier, V Désilets, B Maranda, PJ Waters, ...
Genetics in Medicine 20 (9), 942-949, 2018
242018
Capturing the clinical utility of genomic testing: medical recommendations following pediatric microarray
RZ Hayeems, N Hoang, S Chenier, DJ Stavropoulos, S Pu, R Weksberg, ...
European Journal of Human Genetics 23 (9), 1135-1141, 2015
222015
Molecular diagnosis of muscular diseases in outpatient clinics: A Canadian perspective
F Thuriot, E Gravel, C Buote, M Doyon, E Lapointe, L Marcoux, S Larue, ...
Neurology: Genetics 6 (2), e408, 2020
192020
Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11. 2
S Chénier, A Noor, L Dupuis, DJ Stavropoulos, R Mendoza‐Londono
American Journal of Medical Genetics Part A 158 (11), 2946-2952, 2012
142012
Copy number variation in genetic epilepsy with febrile seizures plus
O Fortin, C Vincelette, S Chénier, A Ghais, MI Shevell, E Simard-Tremblay, ...
European Journal of Paediatric Neurology 27, 111-115, 2020
92020
Stress in parents of children with genetically determined leukoencephalopathies: a pilot study
E Dermer, A Spahr, LT Tran, A Mirchi, F Pelletier, K Guerrero, S Ahmed, ...
Journal of child neurology 35 (13), 901-907, 2020
82020
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease
A Accogli, K Guerrero, MD D’Agostino, L Tran, C Cieuta-Walti, I Thiffault, ...
Journal of child neurology 34 (2), 74-80, 2019
82019
Experience of parents of children with genetically determined leukoencephalopathies regarding the adapted health care services during the COVID-19 pandemic
P Amir Yazdani, ML St-Jean, S Matovic, A Spahr, LT Tran, RM Boucher, ...
Journal of Child Neurology 37 (4), 237-245, 2022
32022
The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study
PA Yazdani, ML St-Jean, S Matovic, A Spahr, LT Tran, RM Boucher, ...
Journal of Child Neurology 38 (5), 329-335, 2023
22023
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