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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA. Jouan L, et al. Among authors: daoud h. Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22. Eur J Hum Genet. 2016. PMID: 26197979 Free PMC article.
Exome sequencing reveals SPG11 mutations causing juvenile ALS.
Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA. Daoud H, et al. Neurobiol Aging. 2012 Apr;33(4):839.e5-9. doi: 10.1016/j.neurobiolaging.2011.11.012. Epub 2011 Dec 10. Neurobiol Aging. 2012. PMID: 22154821
De novo mutations in moderate or severe intellectual disability.
Hamdan FF, Srour M, Capo-Chichi JM, Daoud H, Nassif C, Patry L, Massicotte C, Ambalavanan A, Spiegelman D, Diallo O, Henrion E, Dionne-Laporte A, Fougerat A, Pshezhetsky AV, Venkateswaran S, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: daoud h. PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25356899 Free PMC article.
Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.
Belzil VV, Daoud H, St-Onge J, Desjarlais A, Bouchard JP, Dupre N, Lacomblez L, Salachas F, Pradat PF, Meininger V, Camu W, Dion PA, Rouleau GA. Belzil VV, et al. Among authors: daoud h. Amyotroph Lateral Scler. 2011 Mar;12(2):113-7. doi: 10.3109/17482968.2010.536840. Epub 2011 Jan 24. Amyotroph Lateral Scler. 2011. PMID: 21261515
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.
Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA. Belzil VV, et al. Among authors: daoud h. Eur J Hum Genet. 2013 Feb;21(2):237-9. doi: 10.1038/ejhg.2012.135. Epub 2012 Jun 27. Eur J Hum Genet. 2013. PMID: 22739338 Free PMC article.
134 results