| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 559 | 2015 |
| Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ... The lancet neurology 12 (12), 1159-1169, 2013 | 420 | 2013 |
| Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care SL Sawyer, T Hartley, DA Dyment, CL Beaulieu, J Schwartzentruber, ... Clinical genetics 89 (3), 275-284, 2016 | 418 | 2016 |
| Exosomes induce fibroblast differentiation into cancer-associated fibroblasts through TGFβ signaling C Ringuette Goulet, G Bernard, S Tremblay, S Chabaud, S Bolduc, ... Molecular Cancer Research 16 (7), 1196-1204, 2018 | 263 | 2018 |
| Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy G Bernard, E Chouery, ML Putorti, M Tétreault, A Takanohashi, G Carosso, ... The American Journal of Human Genetics 89 (3), 415-423, 2011 | 255 | 2011 |
| Cancer-associated fibroblasts induce epithelial–mesenchymal transition of bladder cancer cells through paracrine IL-6 signalling CR Goulet, A Champagne, G Bernard, D Vandal, S Chabaud, F Pouliot, ... BMC cancer 19, 1-13, 2019 | 236 | 2019 |
| 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 |
| A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ... Molecular genetics and metabolism 114 (4), 501-515, 2015 | 197 | 2015 |
| Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations NI Wolf, A Vanderver, RML Van Spaendonk, R Schiffmann, B Brais, ... Neurology 83 (21), 1898-1905, 2014 | 193 | 2014 |
| Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans V Bayat, I Thiffault, M Jaiswal, M Tétreault, T Donti, F Sasarman, ... PLoS biology 10 (3), e1001288, 2012 | 193 | 2012 |
| Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans V Bayat, I Thiffault, M Jaiswal, M Tétreault, T Donti, F Sasarman, ... PLoS biology 10 (3), e1001288, 2012 | 193 | 2012 |
| Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy M Tétreault, K Choquet, S Orcesi, D Tonduti, U Balottin, M Teichmann, ... The American Journal of Human Genetics 89 (5), 652-655, 2011 | 164 | 2011 |
| Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III I Thiffault, NI Wolf, D Forget, K Guerrero, LT Tran, K Choquet, ... Nature communications 6 (1), 7623, 2015 | 160 | 2015 |
| Hypomyelinating leukodystrophies: translational research progress and prospects PJW Pouwels, A Vanderver, G Bernard, NI Wolf, SF Dreha‐Kulczewksi, ... Annals of neurology 76 (1), 5-19, 2014 | 149 | 2014 |
| Whole exome sequencing in patients with white matter abnormalities A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ... Annals of neurology 79 (6), 1031-1037, 2016 | 147 | 2016 |
| Onset of multiple sclerosis before adulthood leads to failure of age-expected brain growth B Aubert-Broche, V Fonov, S Narayanan, DL Arnold, D Araujo, D Fetco, ... Neurology 83 (23), 2140-2146, 2014 | 130 | 2014 |
| Plasticity of locomotor sensorimotor interactions after peripheral and/or spinal lesions S Rossignol, G Barrière, A Frigon, D Barthélemy, L Bouyer, J Provencher, ... Brain research reviews 57 (1), 228-240, 2008 | 106 | 2008 |
| Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism H Daoud, M Tétreault, W Gibson, K Guerrero, A Cohen, ... Journal of medical genetics 50 (3), 194-197, 2013 | 102 | 2013 |
| Channelopathies: a review G Bernard, MI Shevell Pediatric neurology 38 (2), 73-85, 2008 | 99 | 2008 |
| 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 |
