De Novo Mutations in Moderate or Severe Intellectual Disability FF Hamdan, M Srour, JM Capo-Chichi, H Daoud, C Nassif, L Patry, ... PLoS genetics 10 (10), e1004772, 2014 | 440 | 2014 |
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability FF Hamdan, J Gauthier, Y Araki, DT Lin, Y Yoshizawa, K Higashi, A Park, ... The American Journal of Human Genetics 88 (3), 306-316, 2011 | 417 | 2011 |
Genetics of motor neuron disorders: new insights into pathogenic mechanisms PA Dion, H Daoud, GA Rouleau Nature Reviews Genetics 10 (11), 769-782, 2009 | 352 | 2009 |
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts P Awadalla, J Gauthier, RA Myers, F Casals, FF Hamdan, AR Griffing, ... The American Journal of Human Genetics 87 (3), 316-324, 2010 | 291 | 2010 |
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment FF Hamdan, H Daoud, D Rochefort, A Piton, J Gauthier, M Langlois, ... The American Journal of Human Genetics 87 (5), 671-678, 2010 | 268 | 2010 |
Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis H Daoud, PN Valdmanis, E Kabashi, P Dion, N Dupre, W Camu, ... Journal of medical genetics 46 (2), 112-114, 2009 | 236 | 2009 |
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism FF Hamdan, H Daoud, A Piton, J Gauthier, S Dobrzeniecka, MO Krebs, ... Biological psychiatry 69 (9), 898-901, 2011 | 232 | 2011 |
CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia KL Williams, S Topp, S Yang, B Smith, JA Fifita, ST Warraich, KY Zhang, ... Nature communications 7 (1), 11253, 2016 | 229 | 2016 |
Mutations in FUS cause FALS and SALS in French and French Canadian populations VV Belzil, PN Valdmanis, PA Dion, H Daoud, E Kabashi, A Noreau, ... Neurology 73 (15), 1176-1179, 2009 | 180 | 2009 |
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis HM Kaneb, AW Folkmann, VV Belzil, LE Jao, CS Leblond, SL Girard, ... Human molecular genetics 24 (5), 1363-1373, 2015 | 156 | 2015 |
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories C Akimoto, AE Volk, M van Blitterswijk, M Van den Broeck, CS Leblond, ... Journal of medical genetics 51 (6), 419-424, 2014 | 149 | 2014 |
Recent advances in the genetics of amyotrophic lateral sclerosis PN Valdmanis, H Daoud, PA Dion, GA Rouleau Current neurology and neuroscience reports 9 (3), 198-205, 2009 | 149 | 2009 |
ATXN2 trinucleotide repeat length correlates with risk of ALS W Sproviero, A Shatunov, D Stahl, M Shoai, W van Rheenen, AR Jones, ... Neurobiology of aging 51, 178. e1-178. e9, 2017 | 125 | 2017 |
Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis H Daoud, V Belzil, S Martins, M Sabbagh, P Provencher, L Lacomblez, ... Archives of neurology 68 (6), 739-742, 2011 | 125 | 2011 |
Exome sequencing reveals< i> SPG11</i> mutations causing juvenile ALS H Daoud, S Zhou, A Noreau, M Sabbagh, V Belzil, A Dionne-Laporte, ... Neurobiology of aging, 2011 | 119 | 2011 |
Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations P Corcia, P Valdmanis, S Millecamps, C Lionnet, H Blasco, K Mouzat, ... Neurology 78 (19), 1519-1526, 2012 | 113 | 2012 |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit H Daoud, SM Luco, R Li, E Bareke, C Beaulieu, O Jarinova, N Carson, ... Cmaj 188 (11), E254-E260, 2016 | 112 | 2016 |
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 | 104 | 2013 |
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients P Gonzalez-Perez, U Woehlbier, RJ Chian, P Sapp, GA Rouleau, ... Gene 566 (2), 158-165, 2015 | 88 | 2015 |
Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis VV Belzil, H Daoud, A Desjarlais, JP Bouchard, N Dupré, W Camu, ... Neurobiology of aging 32 (3), 555. e13-555. e14, 2011 | 72 | 2011 |