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Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.
Neurogenetics. 2019 May;20(2):103-108. doi: 10.1007/s10048-019-00572-7. Epub 2019 Mar 28.
Neurogenetics. 2019.
PMID: 30924036
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
Accogli A, St-Onge J, Addour-Boudrahem N, Lafond-Lapalme J, Laporte AD, Rouleau GA, Rivière JB, Srour M.
Accogli A, et al. Among authors: laporte ad.
J Child Neurol. 2020 Feb;35(2):106-110. doi: 10.1177/0883073819878917. Epub 2019 Oct 16.
J Child Neurol. 2020.
PMID: 31617442
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Transcriptome-wide association study of attention deficit hyperactivity disorder identifies associated genes and phenotypes.
Liao C, Laporte AD, Spiegelman D, Akçimen F, Joober R, Dion PA, Rouleau GA.
Liao C, et al. Among authors: laporte ad.
Nat Commun. 2019 Oct 1;10(1):4450. doi: 10.1038/s41467-019-12450-9.
Nat Commun. 2019.
PMID: 31575856
Free PMC article.
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Investigating the association and causal relationship between restless legs syndrome and essential tremor.
Liao C, Houle G, He Q, Laporte AD, Girard SL, Dion PA, Rouleau GA.
Liao C, et al. Among authors: laporte ad.
Parkinsonism Relat Disord. 2019 Apr;61:238-240. doi: 10.1016/j.parkreldis.2018.10.022. Epub 2018 Oct 19.
Parkinsonism Relat Disord. 2019.
PMID: 30366831
No abstract available.
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Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor.
Liao C, Sarayloo F, Vuokila V, Rochefort D, Akçimen F, Diamond S, Houle G, Laporte AD, Spiegelman D, He Q, Catoire H, Dion PA, Rouleau GA.
Liao C, et al. Among authors: laporte ad.
Front Genet. 2020 Jul 31;11:813. doi: 10.3389/fgene.2020.00813. eCollection 2020.
Front Genet. 2020.
PMID: 32849812
Free PMC article.
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, An…
See abstract for full author list ➔
Hamdan FF, et al. Among authors: laporte ad.
Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.
Am J Hum Genet. 2017.
PMID: 29100083
Free PMC article.
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Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.
Liao C, Sarayloo F, Rochefort D, Houle G, Akçimen F, He Q, Laporte AD, Spiegelman D, Poewe W, Berg D, Müller S, Hopfner F, Deuschl G, Kuhlenbäeumer G, Rajput A, Dion PA, Rouleau GA.
Liao C, et al. Among authors: laporte ad.
Mov Disord. 2020 Jul;35(7):1153-1162. doi: 10.1002/mds.28031. Epub 2020 Apr 6.
Mov Disord. 2020.
PMID: 32249994
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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.
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.
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