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Results: 1 to 20 of 133

1.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, Gaspar C, Rivière JB, Tarabeux J, Cossette P, Krebs MO, Rapoport JL, Addington A, Delisi LE, Mottron L, Joober R, Fombonne E, Drapeau P, Rouleau GA.

Mol Psychiatry. 2011 Aug;16(8):867-80. doi: 10.1038/mp.2010.54. Epub 2010 May 18.

PMID:
20479760
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

Tarabeux J, Kebir O, Gauthier J, Hamdan FF, Xiong L, Piton A, Spiegelman D, Henrion É, Millet B; S2D team, Fathalli F, Joober R, Rapoport JL, DeLisi LE, Fombonne É, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Drapeau P, Lafrenière RG, Rouleau GA, Krebs MO.

Transl Psychiatry. 2011 Nov 15;1:e55. doi: 10.1038/tp.2011.52.

PMID:
22833210
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia.

Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, Lapointe M, Spiegelman D, Noreau A, Lafrenière RG, Fathalli F, Joober R, Krebs MO, DeLisi LE, Mottron L, Fombonne E, Michaud JL, Drapeau P, Carbonetto S, Craig AM, Rouleau GA.

Hum Genet. 2011 Oct;130(4):563-73. doi: 10.1007/s00439-011-0975-z. Epub 2011 Mar 22.

PMID:
21424692
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.

Piton A, Jouan L, Rochefort D, Dobrzeniecka S, Lachapelle K, Dion PA, Gauthier J, Rouleau GA.

Eur J Hum Genet. 2013 Jul;21(7):749-56. doi: 10.1038/ejhg.2012.243. Epub 2012 Nov 21.

PMID:
23169495
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Copy number and sequence variants implicate APBA2 as an autism candidate gene.

Babatz TD, Kumar RA, Sudi J, Dobyns WB, Christian SL.

Autism Res. 2009 Dec;2(6):359-64. doi: 10.1002/aur.107.

PMID:
20029827
[PubMed - indexed for MEDLINE]
6.

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA.

Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16.

PMID:
20473310
[PubMed - indexed for MEDLINE]
7.

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T.

PLoS Genet. 2012 Feb;8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9.

PMID:
22346768
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

[Genetic analysis and genes relating synaptic function for autism spectrum disorder].

Yamagata T, Matsumoto A, Nagata K.

No To Hattatsu. 2014 Mar;46(2):125-30. Review. Japanese. No abstract available.

PMID:
24738190
[PubMed - indexed for MEDLINE]
9.

SHANK1 Deletions in Males with Autism Spectrum Disorder.

Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, Leboyer M, Rastam M, Gillberg C, Lathrop M, Stavropoulos DJ, Anagnostou E, Weksberg R, Fombonne E, Zwaigenbaum L, Fernandez BA, Roberts W, Rappold GA, Marshall CR, Bourgeron T, Szatmari P, Scherer SW.

Am J Hum Genet. 2012 May 4;90(5):879-87. doi: 10.1016/j.ajhg.2012.03.017. Epub 2012 Apr 12.

PMID:
22503632
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

A population genetic approach to mapping neurological disorder genes using deep resequencing.

Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E, Zilversmit M, Hussin J, Quinlan J, Yang Y, Lafrenière RG, Griffing AR, Stone EA, Rouleau GA, Awadalla P.

PLoS Genet. 2011 Feb;7(2):e1001318. doi: 10.1371/journal.pgen.1001318. Epub 2011 Feb 24.

PMID:
21383861
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.

Awadalla P, Gauthier J, Myers RA, Casals F, Hamdan FF, Griffing AR, Côté M, Henrion E, Spiegelman D, Tarabeux J, Piton A, Yang Y, Boyko A, Bustamante C, Xiong L, Rapoport JL, Addington AM, DeLisi JL, Krebs MO, Joober R, Millet B, Fombonne E, Mottron L, Zilversmit M, Keebler J, Daoud H, Marineau C, Roy-Gagnon MH, Dubé MP, Eyre-Walker A, Drapeau P, Stone EA, Lafrenière RG, Rouleau GA.

Am J Hum Genet. 2010 Sep 10;87(3):316-24. doi: 10.1016/j.ajhg.2010.07.019.

PMID:
20797689
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

He X, Sanders SJ, Liu L, De Rubeis S, Lim ET, Sutcliffe JS, Schellenberg GD, Gibbs RA, Daly MJ, Buxbaum JD, State MW, Devlin B, Roeder K.

PLoS Genet. 2013;9(8):e1003671. doi: 10.1371/journal.pgen.1003671. Epub 2013 Aug 15.

PMID:
23966865
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A strategy to identify de novo mutations in common disorders such as autism and schizophrenia.

Julie G, Hamdan FF, Rouleau GA.

J Vis Exp. 2011 Jun 15;(52). pii: 2534. doi: 10.3791/2534.

PMID:
21712793
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

Nava C, Lamari F, Héron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Périsse D, Laurent C, Dupuits C, Gautier C, Gérard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C.

Transl Psychiatry. 2012 Oct 23;2:e179. doi: 10.1038/tp.2012.102.

PMID:
23092983
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW.

Am J Hum Genet. 2013 Aug 8;93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. Epub 2013 Jul 11.

PMID:
23849776
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.

Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME.

Hum Mol Genet. 2012 Oct 1;21(19):4356-64. doi: 10.1093/hmg/dds267. Epub 2012 Jul 5.

PMID:
22773736
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Rare structural variation of synapse and neurotransmission genes in autism.

Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS.

Mol Psychiatry. 2012 Apr;17(4):402-11. doi: 10.1038/mp.2011.10. Epub 2011 Mar 1.

PMID:
21358714
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Networks of neuronal genes affected by common and rare variants in autism spectrum disorders.

Ben-David E, Shifman S.

PLoS Genet. 2012;8(3):e1002556. doi: 10.1371/journal.pgen.1002556. Epub 2012 Mar 8.

PMID:
22412387
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Resequencing of the vesicular glutamate transporter 2 gene (VGLUT2) reveals some rare genetic variants that may increase the genetic burden in schizophrenia.

Shen YC, Liao DL, Lu CL, Chen JY, Liou YJ, Chen TT, Chen CH.

Schizophr Res. 2010 Aug;121(1-3):179-86. doi: 10.1016/j.schres.2010.05.015. Epub 2010 Jun 11.

PMID:
20541370
[PubMed - indexed for MEDLINE]
20.

The genetics of autism.

Muhle R, Trentacoste SV, Rapin I.

Pediatrics. 2004 May;113(5):e472-86. Review.

PMID:
15121991
[PubMed - indexed for MEDLINE]

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