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Page 1
Increased exonic de novo mutation rate in individuals with schizophrenia.
Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA. Girard SL, et al. Among authors: jouan l. Nat Genet. 2011 Jul 10;43(9):860-3. doi: 10.1038/ng.886. Nat Genet. 2011. PMID: 21743468
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. 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.
Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.
Blais J, Giroux S, Caron A, Clément V, Dionne-Laporte A, Jouan L, Gauthier J, MacLeod T, Moore R, Parker J, Swanson L, Zhao Y, Rouleau G, Karsan A, Langlois S, Rousseau F. Blais J, et al. Among authors: jouan l. Clin Biochem. 2018 Sep;59:69-77. doi: 10.1016/j.clinbiochem.2018.06.015. Epub 2018 Jun 27. Clin Biochem. 2018. PMID: 29958880 Free article.
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study.
Rousseau F, Langlois S, Johnson JA, Gekas J, Bujold E, Audibert F, Walker M, Giroux S, Caron A, Clément V, Blais J, MacLeod T, Moore R, Gauthier J, Jouan L, Laporte A, Diallo O, Parker J, Swanson L, Zhao Y, Labelle Y, Giguère Y, Forest JC, Little J, Karsan A, Rouleau G. Rousseau F, et al. Among authors: jouan l. Eur J Hum Genet. 2019 Nov;27(11):1701-1715. doi: 10.1038/s41431-019-0443-0. Epub 2019 Jun 23. Eur J Hum Genet. 2019. PMID: 31231136 Free PMC article.
28 results