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 | 245 | 2013 |
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 | 148 | 2003 |
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 | 96 | 2014 |
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 | 82 | 2011 |
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 | 73 | 2011 |
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 | 65 | 2005 |
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 | 55 | 2012 |
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 | 51 | 2011 |
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 | 49 | 2016 |
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 | 38 | 2019 |
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 | 24 | 2019 |
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 | 24 | 2018 |
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 | 22 | 2015 |
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 | 19 | 2020 |
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 | 14 | 2012 |
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 | 9 | 2020 |
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 | 8 | 2020 |
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 | 8 | 2019 |
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 | 3 | 2022 |
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 | 2 | 2023 |