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Items: 26

1.

Genetic architecture and adaptations of Nunavik Inuit.

Zhou S, Xie P, Quoibion A, Ambalavanan A, Dionne-Laporte A, Spiegelman D, Bourassa CV, Xiong L, Dion PA, Rouleau GA.

Proc Natl Acad Sci U S A. 2019 Aug 6;116(32):16012-16017. doi: 10.1073/pnas.1810388116. Epub 2019 Jul 22.

PMID:
31332017
2.

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.

Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z.

Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20.

PMID:
30788890
3.

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males.

Ambalavanan A, Chaumette B, Zhou S, Xie P, He Q, Spiegelman D, Dionne-Laporte A, Bourassa CV, Therrien M, Rochefort D, Xiong L, Dion PA, Joober R, Rapoport JL, Girard SL, Rouleau GA.

Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):335-340. doi: 10.1002/ajmg.b.32683. Epub 2018 Oct 30.

PMID:
30378261
4.

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases.

Schmouth JF, Houle G, Ambalavanan A, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mol Neurobiol. 2019 Jun;56(6):4317-4321. doi: 10.1007/s12035-018-1369-1. Epub 2018 Oct 12.

PMID:
30315477
5.

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.

Chaumette B, Ferrafiat V, Ambalavanan A, Goldenberg A, Dionne-Laporte A, Spiegelman D, Dion PA, Gerardin P, Laurent C, Cohen D, Rapoport J, Rouleau GA.

Mol Psychiatry. 2018 Jun 12. doi: 10.1038/s41380-018-0103-8. [Epub ahead of print]

6.

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder.

Li J, Ruskey JA, Arnulf I, Dauvilliers Y, Hu MTM, Högl B, Leblond CS, Zhou S, Ambalavanan A, Ross JP, Bourassa CV, Spiegelman D, Laurent SB, Stefani A, Charley Monaca C, Cochen De Cock V, Boivin M, Ferini-Strambi L, Plazzi G, Antelmi E, Young P, Heidbreder A, Labbe C, Ferman TJ, Dion PA, Fan D, Desautels A, Gagnon JF, Dupré N, Fon EA, Montplaisir JY, Boeve BF, Postuma RB, Rouleau GA, Ross OA, Gan-Or Z.

Mov Disord. 2018 Jul;33(6):1016-1020. doi: 10.1002/mds.27385. Epub 2018 May 14.

PMID:
29756641
7.

A rare variant in MLKL confers susceptibility to ApoE ɛ4-negative Alzheimer's disease in Hong Kong Chinese population.

Wang B, Bao S, Zhang Z, Zhou X, Wang J, Fan Y, Zhang Y, Li Y, Chen L, Jia Y, Li J, Li M, Zheng W, Mu N, Wang L, Yu Z, Wong DSM, Zhang Y, Kwan J, Ka-Fung Mak H, Ambalavanan A, Zhou S, Cai W, Zheng J, Huang S, Rouleau GA, Yang W, Rogaeva E, Ma X, St George-Hyslop P, Chu LW, Song YQ.

Neurobiol Aging. 2018 Aug;68:160.e1-160.e7. doi: 10.1016/j.neurobiolaging.2018.03.006. Epub 2018 Mar 10.

PMID:
29656768
8.

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population.

Zhou S, Gan-Or Z, Ambalavanan A, Lai D, Xie P, Bourassa CV, Strong S, Ross JP, Dionne-Laporte A, Spiegelman D, Dupré N, Foroud TM, Xiong L, Dion PA, Rouleau GA.

Sci Rep. 2018 Mar 12;8(1):4356. doi: 10.1038/s41598-018-21603-7.

9.

Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.

Cruceanu C, Schmouth JF, Torres-Platas SG, Lopez JP, Ambalavanan A, Darcq E, Gross F, Breton B, Spiegelman D, Rochefort D, Hince P, Petite JM, Gauthier J, Lafrenière RG, Dion PA, Greenwood CM, Kieffer BL, Alda M, Turecki G, Rouleau GA.

Mol Psychiatry. 2018 Oct;23(10):2050-2056. doi: 10.1038/mp.2017.223. Epub 2017 Nov 21.

PMID:
29158579
10.

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor.

Houle G, Ambalavanan A, Schmouth JF, Leblond CS, Spiegelman D, Laurent SB, Bourassa CV, Grayson C, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Girard SL, Dion PA, Rouleau GA.

Neurol Genet. 2017 Oct 19;3(5):e195. doi: 10.1212/NXG.0000000000000195. eCollection 2017 Oct.

11.

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.

Houle G, Schmouth JF, Leblond CS, Ambalavanan A, Spiegelman D, Laurent SB, Bourassa CV, Panisset M, Chouinard S, Dupré N, Vilariño-Güell C, Rajput A, Dion PA, Rouleau GA.

Mov Disord. 2017 Feb;32(2):292-295. doi: 10.1002/mds.26753. Epub 2017 Feb 3.

PMID:
28158909
12.

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Zhou S, Ambalavanan A, Rochefort D, Xie P, Bourassa CV, Hince P, Dionne-Laporte A, Spiegelman D, Gan-Or Z, Mirarchi C, Zaharieva V, Dupré N, Kobayashi H, Hitomi T, Harada K, Koizumi A, Xiong L, Dion PA, Rouleau GA.

Am J Hum Genet. 2016 Nov 3;99(5):1072-1085. doi: 10.1016/j.ajhg.2016.09.001. Epub 2016 Oct 13.

13.

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals.

Girard SL, Bourassa CV, Lemieux Perreault LP, Legault MA, Barhdadi A, Ambalavanan A, Brendgen M, Vitaro F, Noreau A, Dionne G, Tremblay RE, Dion PA, Boivin M, Dubé MP, Rouleau GA.

PLoS One. 2016 Oct 10;11(10):e0164212. doi: 10.1371/journal.pone.0164212. eCollection 2016.

14.

GBA p.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis.

Mallett V, Ross JP, Alcalay RN, Ambalavanan A, Sidransky E, Dion PA, Rouleau GA, Gan-Or Z.

Neurol Genet. 2016 Sep 8;2(5):e104. doi: 10.1212/NXG.0000000000000104. eCollection 2016 Oct.

15.

Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling.

Thomas RA, Ambalavanan A, Rouleau GA, Barker PA.

Mol Genet Genomic Med. 2016 Mar 11;4(4):447-56. doi: 10.1002/mgg3.215. eCollection 2016 Jul.

16.

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.

Ross JP, Dupre N, Dauvilliers Y, Strong S, Ambalavanan A, Spiegelman D, Dionne-Laporte A, Pourcher E, Langlois M, Boivin M, Leblond CS, Dion PA, Rouleau GA, Gan-Or Z.

Neurobiol Aging. 2016 Sep;45:212.e13-212.e17. doi: 10.1016/j.neurobiolaging.2016.04.023. Epub 2016 May 3.

17.

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder.

Gan-Or Z, Mohsin N, Girard SL, Montplaisir JY, Ambalavanan A, Strong S, Mallett V, Laurent SB, Bourassa CV, Boivin M, Langlois M, Arnulf I, Högl B, Frauscher B, Monaca C, Desautels A, Gagnon JF, Postuma RB, Dion PA, Dauvilliers Y, Dupre N, Alcalay RN, Rouleau GA.

Neurobiol Aging. 2016 Jul;43:180.e7-180.e13. doi: 10.1016/j.neurobiolaging.2016.03.029. Epub 2016 Apr 6.

18.

De novo variants in sporadic cases of childhood onset schizophrenia.

Ambalavanan A, Girard SL, Ahn K, Zhou S, Dionne-Laporte A, Spiegelman D, Bourassa CV, Gauthier J, Hamdan FF, Xiong L, Dion PA, Joober R, Rapoport J, Rouleau GA.

Eur J Hum Genet. 2016 Jun;24(6):944-8. doi: 10.1038/ejhg.2015.218. Epub 2015 Oct 28.

19.

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome.

Gan-Or Z, Zhou S, Ambalavanan A, Leblond CS, Xie P, Johnson A, Spiegelman D, Allen RP, Earley CJ, Desautels A, Montplaisir JY, Dion PA, Xiong L, Rouleau GA.

Sleep Med. 2015 Sep;16(9):1151-5. doi: 10.1016/j.sleep.2015.06.002. Epub 2015 Jun 17.

PMID:
26298793
20.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

Rafiq MA, Leblond CS, Saqib MA, Vincent AK, Ambalavanan A, Khan FS, Ayaz M, Shaheen N, Spiegelman D, Ali G, Amin-ud-Din M, Laurent S, Mahmood H, Christian M, Ali N, Fennell A, Nanjiani Z, Egger G, Caron C, Waqas A, Ayub M, Rasheed S, Forgeot d'Arc B, Johnson A, So J, Brohi MQ, Mottron L, Ansar M, Vincent JB, Xiong L.

BMC Med Genet. 2015 Jun 25;16:41. doi: 10.1186/s12881-015-0183-0.

21.

Increased missense mutation burden of Fatty Acid metabolism related genes in nunavik inuit population.

Zhou S, Xiong L, Xie P, Ambalavanan A, Bourassa CV, Dionne-Laporte A, Spiegelman D, Turcotte Gauthier M, Henrion E, Diallo O, Dion PA, Rouleau GA.

PLoS One. 2015 May 26;10(5):e0128255. doi: 10.1371/journal.pone.0128255. eCollection 2015.

22.

Family-based association study of common variants, rare mutation study and epistatic interaction detection in HDAC genes in schizophrenia.

Kebir O, Chaumette B, Fatjó-Vilas M, Ambalavanan A, Ramoz N, Xiong L, Mouaffak F, Millet B, Jaafari N, DeLisi LE, Levinson D, Joober R, Fañanás L, Rouleau G, Dubertret C, Krebs MO.

Schizophr Res. 2014 Dec;160(1-3):97-103. doi: 10.1016/j.schres.2014.09.029. Epub 2014 Oct 18.

PMID:
25445625
23.

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.

PLoS Genet. 2014 Oct 30;10(10):e1004772. doi: 10.1371/journal.pgen.1004772. eCollection 2014 Oct.

24.

Methylation of BDNF in women with bulimic eating syndromes: associations with childhood abuse and borderline personality disorder.

Thaler L, Gauvin L, Joober R, Groleau P, de Guzman R, Ambalavanan A, Israel M, Wilson S, Steiger H.

Prog Neuropsychopharmacol Biol Psychiatry. 2014 Oct 3;54:43-9. doi: 10.1016/j.pnpbp.2014.04.010. Epub 2014 May 5.

PMID:
24801751
25.

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder.

Cruceanu C, Ambalavanan A, Spiegelman D, Gauthier J, Lafrenière RG, Dion PA, Alda M, Turecki G, Rouleau GA.

Genome. 2013 Oct;56(10):634-40. doi: 10.1139/gen-2013-0081. Epub 2013 Sep 17.

26.

Investigation of rare variants in LRP1, KPNA1, ALS2CL and ZNF480 genes in schizophrenia patients reflects genetic heterogeneity of the disease.

Jouan L, Girard SL, Dobrzeniecka S, Ambalavanan A, Krebs MO, Joober R, Gauthier J, Dion PA, Rouleau GA.

Behav Brain Funct. 2013 Feb 20;9:9. doi: 10.1186/1744-9081-9-9.

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