(Titres sélectionnés pour ne pas trop vous ennuyer)

2.        May P, Girard S, Harrer M, Bobbili DR, Schubert J, Wolking S, et al. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol.; 2018;17:699–708.

 

4.        Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, et al. Global characterization of copy number variants in epilepsy patients from whole genome sequencing. PLoS Genet.; 2018;14:e1007285.

 

6.        Girard SL, Dion PA, Bourassa C V, Geoffroy S, Lachance-Touchette P, Barhdadi A, et al. Mutation burden of rare variants in schizophrenia candidate genes. PLoS One.; 2015;10:e0128988.

 

8.        Merner ND, Girard SL, Catoire H, Bourassa C V, Belzil V V, Rivière J-B, et al. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet; 2012;91:313–9.

9.        Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet; 2011;43:860.

10.      Srour M, Rivière J-B, Pham JMT, Dubé M-P, Girard S, Morin S, et al. Mutations in DCC cause congenital mirror movements. Science; 2010;328:592.

Les publications

(Titres sélectionnés pour ne pas trop vous ennuyer)

Impact of Paternal Age at Conception on Human Health

Simard M, Laprise C, Girard SL. Impact of Paternal Age at Conception on Human Health. Clinical Chemistry; 2019;65:146–52.

Human copy number variants are enriched in regions of low mappability

Monlong J, Cossette P, Meloche C, Rouleau G, Girard SL, Bourque G. Human copy number variants are enriched in regions of low mappability. Nucleic Acids Res. 2018;46:7236–49.

Genome-wide association study in essential tremor identifies three new loci

Müller SH, Girard SL, Hopfner F, Merner ND, Bourassa C V, Lorenz D, et al. Genome-wide association study in essential tremor identifies three new loci. Brain; 2016;139:3163–9.

The Lancet Neurologu

Girard SL, Rouleau GA. Genome-wide association study in FTD: divide to conquer. Lancet Neurol; 2014;13:643–4.