Rousseau F - Search Results

1

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJ, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW; FORGE Canada Consortium; Friedman JM, Michaud JL, Boycott KM. Beaulieu CL, et al. Among authors: rousseau f. Am J Hum Genet. 2014 Jun 5;94(6):809-17. doi: 10.1016/j.ajhg.2014.05.003. Am J Hum Genet. 2014. PMID: 24906018 Free PMC article.

2

"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.

Townsend A, Adam S, Birch PH, Lohn Z, Rousseau F, Friedman JM. Townsend A, et al. Among authors: rousseau f. Am J Med Genet A. 2012 Oct;158A(10):2519-25. doi: 10.1002/ajmg.a.35554. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903777

3

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing.

Townsend A, Rousseau F, Friedman J, Adam S, Lohn Z, Birch P. Townsend A, et al. Among authors: rousseau f. Eur J Hum Genet. 2014 Jan;22(1):6. doi: 10.1038/ejhg.2013.94. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674174 Free PMC article. No abstract available.

4

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.

Tucker T, Giroux S, Clément V, Langlois S, Friedman JM, Rousseau F. Tucker T, et al. Among authors: rousseau f. Mol Genet Genomic Med. 2013 Jul;1(2):87-97. doi: 10.1002/mgg3.12. Epub 2013 May 21. Mol Genet Genomic Med. 2013. PMID: 24498606 Free PMC article.

5

Germline RECQL mutations are associated with breast cancer susceptibility.

Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR. Cybulski C, et al. Among authors: rousseau f. Nat Genet. 2015 Jun;47(6):643-6. doi: 10.1038/ng.3284. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915596

6

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma.

Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD. Rivera B, et al. Among authors: rousseau f. Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23. Cancer Res. 2017. PMID: 28646019

7

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

Rousseau F, Rouillard P, Morel ML, Khandjian EW, Morgan K. Rousseau F, et al. Am J Hum Genet. 1995 Nov;57(5):1006-18. Am J Hum Genet. 1995. PMID: 7485149 Free PMC article.

8

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A, Mathew C, Mornet E, Tejada I, et al. Rousseau F, et al. Am J Hum Genet. 1994 Aug;55(2):225-37. Am J Hum Genet. 1994. PMID: 8037202 Free PMC article. Clinical Trial.

9

Prevalence of HFE gene C282Y and H63D mutations in a French-Canadian population of neonates and in referred patients.

Girouard J, Giguère Y, Delage R, Rousseau F. Girouard J, et al. Among authors: rousseau f. Hum Mol Genet. 2002 Jan 15;11(2):185-9. doi: 10.1093/hmg/11.2.185. Hum Mol Genet. 2002. PMID: 11809727

10

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles.

Dombrowski C, Lévesque S, Morel ML, Rouillard P, Morgan K, Rousseau F. Dombrowski C, et al. Among authors: rousseau f. Hum Mol Genet. 2002 Feb 15;11(4):371-8. doi: 10.1093/hmg/11.4.371. Hum Mol Genet. 2002. PMID: 11854169

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