| Year |
Citation |
Score |
| 2022 |
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, et al. Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. The New England Journal of Medicine. PMID 36516086 DOI: 10.1056/NEJMoa2207406 |
0.408 |
|
| 2022 |
Peretz I, Ross J, Bourassa CV, Perreault LL, Dion PA, Weiss MW, Felezeu M, Rouleau GA, Dubé MP. Do variants in the coding regions of FOXP2, a gene implicated in speech disorder, confer a risk for congenital amusia? Annals of the New York Academy of Sciences. PMID 35980667 DOI: 10.1111/nyas.14883 |
0.581 |
|
| 2016 |
Girard SL, Bourassa CV, Lemieux Perreault LP, Legault MA, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G, Tremblay RE, Dion PA, Boivin M, Dubé MP, Rouleau GA. Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals. Plos One. 11: e0164212. PMID 27723766 DOI: 10.1371/Journal.Pone.0164212 |
0.368 |
|
| 2016 |
Lessard S, Manning AK, Low-Kam C, Auer PL, Giri A, Graff M, Schurmann C, Yaghootkar H, Luan J, Esko T, Karaderi T, et al. Testing the Role of Predicted Gene Knockouts in Human Anthropometric Trait Variation. Human Molecular Genetics. PMID 26908616 DOI: 10.1093/Hmg/Ddw055 |
0.313 |
|
| 2015 |
Girard SL, Dion PA, Bourassa CV, Geoffroy S, Lachance-Touchette P, Barhdadi A, Langlois M, Joober R, Krebs MO, Dubé MP, Rouleau GA. Mutation burden of rare variants in schizophrenia candidate genes. Plos One. 10: e0128988. PMID 26039597 DOI: 10.1371/Journal.Pone.0128988 |
0.448 |
|
| 2015 |
Legault MA, Girard S, Lemieux Perreault LP, Rouleau GA, Dubé MP. Comparison of sequencing based CNV discovery methods using monozygotic twin quartets. Plos One. 10: e0122287. PMID 25812131 DOI: 10.1371/Journal.Pone.0122287 |
0.355 |
|
| 2013 |
Preuss C, Capredon M, Asselin G, Dubé M, Samuels M, Awadalla P, Chetaille P, Andelfinger G. Linkage Mapping and Whole-Exome Sequencing in a Family With Left Ventricular Outflow Tract Obstruction Canadian Journal of Cardiology. 29: S88. DOI: 10.1016/J.Cjca.2013.07.098 |
0.306 |
|
| 2010 |
Guernsey DL, Dubé MP, Jiang H, Asselin G, Blowers S, Evans S, Ferguson M, Macgillivray C, Matsuoka M, Nightingale M, Rideout A, Delatycki M, Orr A, Ludman M, Dooley J, et al. Novel mutations in the sacsin gene in ataxia patients from Maritime Canada. Journal of the Neurological Sciences. 288: 79-87. PMID 19892370 DOI: 10.1016/j.jns.2009.09.034 |
0.326 |
|
| 2009 |
Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. American Journal of Human Genetics. 85: 120-9. PMID 19576563 DOI: 10.1016/J.Ajhg.2009.06.008 |
0.357 |
|
| 2009 |
Jiang H, Orr A, Guernsey DL, Robitaille J, Asselin G, Samuels ME, Dubé MP. Application of homozygosity haplotype analysis to genetic mapping with high-density SNP genotype data. Plos One. 4: e5280. PMID 19399176 DOI: 10.1371/journal.pone.0005280 |
0.326 |
|
| 2007 |
Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. Plos One. 2: e685. PMID 17668063 DOI: 10.1371/journal.pone.0000685 |
0.334 |
|
| 2007 |
Brinkmann RR, Dubé M, Rouleau GA, Orr AC, Samuels ME. Loss-of-function genetic diseases and the concept of pharmaceutical targets Nature Reviews Genetics. 8: 404-404. DOI: 10.1038/Nrg1828-C2 |
0.347 |
|
| 2006 |
Brinkman RR, Dubé MP, Rouleau GA, Orr AC, Samuels ME. Human monogenic disorders - a source of novel drug targets. Nature Reviews. Genetics. 7: 249-60. PMID 16534513 DOI: 10.1038/Nrg1828 |
0.334 |
|
| 2005 |
Duan QL, Nikpoor B, Dube MP, Molinaro G, Meijer IA, Dion P, Rochefort D, Saint-Onge J, Flury L, Brown NJ, Gainer JV, Rouleau JL, Agostoni A, Cugno M, Simon P, et al. A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. American Journal of Human Genetics. 77: 617-26. PMID 16175507 DOI: 10.1086/496899 |
0.421 |
|
| 2004 |
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. American Journal of Human Genetics. 74: 1064-73. PMID 15060842 DOI: 10.1086/420795 |
0.573 |
|
| 2002 |
Howard HC, Dubé MP, Prévost C, Bouchard JP, Mathieu J, Rouleau GA. Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. European Journal of Human Genetics : Ejhg. 10: 406-12. PMID 12107814 DOI: 10.1038/Sj.Ejhg.5200815 |
0.56 |
|
| 2000 |
Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, et al. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. European Journal of Human Genetics : Ejhg. 8: 372-80. PMID 10854098 DOI: 10.1038/Sj.Ejhg.5200471 |
0.483 |
|
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