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Design and rationale of a genetic cohort study on congenital cardiac disease: experiences from a multi-institutional platform in Quebec.
Dubé MP, Bigras JL, Thibeault M, Bureau N, Chetaille P, Richter A, Mercier J, Bellavance M, Rohlicek C, Rozen R, Nemer M, Khairy P, Gendron R, Andelfinger G. Dubé MP, et al. Among authors: richter a. Cardiol Young. 2011 Dec;21(6):654-64. doi: 10.1017/S1047951111000813. Epub 2011 Jul 4. Cardiol Young. 2011. PMID: 21729494
Rare copy number variants contribute to congenital left-sided heart disease.
Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dubé MP, Andelfinger G. Hitz MP, et al. Among authors: richter a. PLoS Genet. 2012 Sep;8(9):e1002903. doi: 10.1371/journal.pgen.1002903. Epub 2012 Sep 6. PLoS Genet. 2012. PMID: 22969434 Free PMC article.
Population history and its impact on medical genetics in Quebec.
Laberge AM, Michaud J, Richter A, Lemyre E, Lambert M, Brais B, Mitchell GA. Laberge AM, et al. Among authors: richter a. Clin Genet. 2005 Oct;68(4):287-301. doi: 10.1111/j.1399-0004.2005.00497.x. Clin Genet. 2005. PMID: 16143014 Review.
Diversity of ARSACS mutations in French-Canadians.
Thiffault I, Dicaire MJ, Tetreault M, Huang KN, Demers-Lamarche J, Bernard G, Duquette A, Larivière R, Gehring K, Montpetit A, McPherson PS, Richter A, Montermini L, Mercier J, Mitchell GA, Dupré N, Prévost C, Bouchard JP, Mathieu J, Brais B. Thiffault I, et al. Among authors: richter a. Can J Neurol Sci. 2013 Jan;40(1):61-6. doi: 10.1017/s0317167100012968. Can J Neurol Sci. 2013. PMID: 23250129
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melançon SB, Keats BJ, Di Donato S, Pandolfo M. Montermini L, et al. Among authors: richter a. Ann Neurol. 1997 May;41(5):675-82. doi: 10.1002/ana.410410518. Ann Neurol. 1997. PMID: 9153531
2,077 results