| Exome sequencing identifies FUS mutations as a cause of essential tremor ND Merner, SL Girard, H Catoire, CV Bourassa, VV Belzil, JB Rivière, ... The American Journal of Human Genetics 91 (2), 313-319, 2012 | 208 | 2012 |
| Genetically encoded impairment of neuronal KCC 2 cotransporter function in human idiopathic generalized epilepsy KT Kahle, ND Merner, P Friedel, L Silayeva, B Liang, A Khanna, Y Shang, ... EMBO reports 15 (7), 766-774, 2014 | 191 | 2014 |
| Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia ND Merner, MR Chandler, C Bourassa, B Liang, AR Khanna, P Dion, ... Frontiers in cellular neuroscience 9, 386, 2015 | 107 | 2015 |
| De novo variants in sporadic cases of childhood onset schizophrenia A Ambalavanan, SL Girard, K Ahn, S Zhou, A Dionne-Laporte, ... European Journal of Human Genetics 24 (6), 944-948, 2016 | 94 | 2016 |
| Genome-wide association study in essential tremor identifies three new loci SH Müller, SL Girard, F Hopfner, ND Merner, CV Bourassa, D Lorenz, ... Brain 139 (12), 3163-3169, 2016 | 92 | 2016 |
| Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations F Akçimen, JP Ross, CV Bourassa, C Liao, D Rochefort, MTD Gama, ... Frontiers in Genetics 10, 1219, 2019 | 67 | 2019 |
| RNF213 is associated with intracranial aneurysms in the French-Canadian population S Zhou, A Ambalavanan, D Rochefort, P Xie, CV Bourassa, P Hince, ... The American Journal of Human Genetics 99 (5), 1072-1085, 2016 | 65 | 2016 |
| Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals SL Girard, CV Bourassa, LP Lemieux Perreault, MA Legault, A Barhdadi, ... PLoS One 11 (10), e0164212, 2016 | 51 | 2016 |
| VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families CV Bourassa, IA Meijer, ND Merner, KK Grewal, MG Stefanelli, ... The American Journal of Human Genetics 91 (3), 548-552, 2012 | 50 | 2012 |
| Evolution of a human-specific tandem repeat associated with ALS MM Course, K Gudsnuk, SN Smukowski, K Winston, N Desai, JP Ross, ... The American Journal of Human Genetics 107 (3), 445-460, 2020 | 47 | 2020 |
| A new ELOVL4 mutation in a case of spinocerebellar ataxia with erythrokeratodermia CV Bourassa, S Raskin, S Serafini, HAG Teive, PA Dion, GA Rouleau JAMA neurology 72 (8), 942-943, 2015 | 42 | 2015 |
| Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder J Li, JA Ruskey, I Arnulf, Y Dauvilliers, MTM Hu, B Högl, CS Leblond, ... Movement Disorders 33 (6), 1016-1020, 2018 | 36 | 2018 |
| LINGO1 Variants in the French-Canadian Population CV Bourassa, JB Riviere, PA Dion, G Bernard, S Diab, M Panisset, ... PloS one 6 (1), e16254, 2011 | 36 | 2011 |
| Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population S Zhou, L Xiong, P Xie, A Ambalavanan, CV Bourassa, A Dionne-Laporte, ... PloS one 10 (5), e0128255, 2015 | 25 | 2015 |
| Mutation burden of rare variants in schizophrenia candidate genes SL Girard, PA Dion, CV Bourassa, S Geoffroy, P Lachance-Touchette, ... PloS one 10 (6), e0128988, 2015 | 23 | 2015 |
| Genetic architecture and adaptations of Nunavik Inuit S Zhou, P Xie, A Quoibion, A Ambalavanan, A Dionne-Laporte, ... Proceedings of the National Academy of Sciences 116 (32), 16012-16017, 2019 | 22 | 2019 |
| C9orf72 repeat expansions in rapid eye movement sleep behaviour disorder H Daoud, RB Postuma, CV Bourassa, D Rochefort, MT Gauthier, ... Canadian Journal of Neurological Sciences 41 (6), 759-762, 2014 | 20 | 2014 |
| Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population S Zhou, Z Gan-Or, A Ambalavanan, D Lai, P Xie, CV Bourassa, S Strong, ... Scientific Reports 8 (1), 4356, 2018 | 19 | 2018 |
| The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder Z Gan-Or, N Mohsin, SL Girard, JY Montplaisir, A Ambalavanan, S Strong, ... Neurobiology of aging 43, 180. e7-180. e13, 2016 | 17 | 2016 |
| Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease F Akçimen, S Martins, C Liao, CV Bourassa, H Catoire, GA Nicholson, ... Aging (Albany NY) 12 (6), 4742, 2020 | 16 | 2020 |
