| 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 |
| XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia NC Hoch, H Hanzlikova, SL Rulten, M Tétreault, E Komulainen, L Ju, ... Nature 541 (7635), 87, 2017 | 243 | 2017 |
| Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8 KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ... The American Journal of Human Genetics 97 (6), 886-893, 2015 | 207 | 2015 |
| 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 V Bayat, I Thiffault, M Jaiswal, M Tétreault, T Donti | 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 | 165 | 2011 |
| DNM1L-related mitochondrial fission defect presenting as refractory epilepsy JR Vanstone, AM Smith, S McBride, T Naas, M Holcik, G Antoun, ... European Journal of Human Genetics 24 (7), 1084, 2016 | 140 | 2016 |
| Recessive osteogenesis imperfecta caused by missense mutations in SPARC R Mendoza-Londono, S Fahiminiya, J Majewski, M Tétreault, J Nadaf, ... The American Journal of Human Genetics 96 (6), 979-985, 2015 | 138 | 2015 |
| Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing TB Balci, T Hartley, Y Xi, DA Dyment, CL Beaulieu, FP Bernier, L Dupuis, ... Clinical genetics 92 (3), 281-289, 2017 | 108 | 2017 |
| Whole‐exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study DA Dyment, M Tetreault, CL Beaulieu, T Hartley, P Ferreira, JW Chardon, ... Clinical genetics 88 (1), 34-40, 2015 | 108 | 2015 |
| 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 |
| Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis JT Bennett, TY Tan, D Alcantara, M Tétrault, AE Timms, D Jensen, ... The American Journal of Human Genetics 98 (3), 579-587, 2016 | 98 | 2016 |
| Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy KA Aldinger, SJ Mosca, M Tétreault, JC Dempsey, GE Ishak, T Hartley, ... The American Journal of Human Genetics 95 (2), 227-234, 2014 | 97 | 2014 |
| Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities M Tetreault, E Bareke, J Nadaf, N Alirezaie, J Majewski Expert review of molecular diagnostics 15 (6), 749-760, 2015 | 94 | 2015 |
| Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia D Pellerin, MC Danzi, C Wilke, M Renaud, S Fazal, MJ Dicaire, CK Scriba, ... New England Journal of Medicine 388 (2), 128-141, 2023 | 92 | 2023 |
| Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy SL Sawyer, A Cheuk-Him Ng, AM Innes, JD Wagner, DA Dyment, ... Human molecular genetics 24 (18), 5109-5114, 2015 | 75 | 2015 |
| A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13–p12 J Jarry, MF Rioux, V Bolduc, Y Robitaille, V Khoury, I Thiffault, M Tetreault, ... Brain 130 (2), 368-380, 2006 | 70 | 2006 |
| SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases K Choquet, M Tétreault, S Yang, R La Piana, MJ Dicaire, MR Vanstone, ... European Journal of Human Genetics 24 (7), 1016, 2016 | 67 | 2016 |
| Diversity of ARSACS mutations in French-Canadians I Thiffault, MJ Dicaire, M Tetreault, KN Huang, J Demers-Lamarche, ... Canadian Journal of Neurological Sciences 40 (1), 61-66, 2013 | 65 | 2013 |
| Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome M Tetreault, S Fahiminiya, H Antonicka, GA Mitchell, MT Geraghty, ... Human genetics 134 (9), 981-991, 2015 | 61 | 2015 |
