Genevieve Bernard
Genevieve Bernard
Montreal Children's Hospital, McGill University Health Center
Verified email at mcgill.ca
Title
Cited by
Cited by
Year
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
3412015
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
2912013
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
2792016
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
1852011
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
1662012
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 Biol 10 (3), e1001288, 2012
1602012
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 Biol 10 (3), e1001288, 2012
1602012
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
1342015
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
1192011
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
1122014
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
1072014
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), 1-9, 2015
982015
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
892016
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
882008
Exosomes induce fibroblast differentiation into cancer-associated fibroblasts through TGFβ signaling
CR Goulet, G Bernard, S Tremblay, S Chabaud, S Bolduc, F Pouliot
Molecular Cancer Research 16 (7), 1196-1204, 2018
832018
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
812014
Channelopathies: a review
G Bernard, MI Shevell
Pediatric neurology 38 (2), 73-85, 2008
732008
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
722013
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
642016
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), 1-13, 2019
582019
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