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Items: 1 to 20 of 92

1.

Increased exonic de novo mutation rate in individuals with schizophrenia.

Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA.

Nat Genet. 2011 Jul 10;43(9):860-3. doi: 10.1038/ng.886.

PMID:
21743468
2.

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.

3.

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

Li J, Cai T, Jiang Y, Chen H, He X, Chen C, Li X, Shao Q, Ran X, Li Z, Xia K, Liu C, Sun ZS, Wu J.

Mol Psychiatry. 2016 Feb;21(2):290-7. doi: 10.1038/mp.2015.40. Epub 2015 Apr 7. Erratum in: Mol Psychiatry. 2016 Feb;21(2):298.

4.

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

Xu B, Roos JL, Dexheimer P, Boone B, Plummer B, Levy S, Gogos JA, Karayiorgou M.

Nat Genet. 2011 Aug 7;43(9):864-8. doi: 10.1038/ng.902.

5.

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.

6.

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease.

Gratten J, Visscher PM, Mowry BJ, Wray NR.

Nat Genet. 2013 Mar;45(3):234-8. doi: 10.1038/ng.2555.

PMID:
23438595
7.

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability.

McCarthy SE, Gillis J, Kramer M, Lihm J, Yoon S, Berstein Y, Mistry M, Pavlidis P, Solomon R, Ghiban E, Antoniou E, Kelleher E, O'Brien C, Donohoe G, Gill M, Morris DW, McCombie WR, Corvin A.

Mol Psychiatry. 2014 Jun;19(6):652-8. doi: 10.1038/mp.2014.29. Epub 2014 Apr 29.

8.

Mutation burden of rare variants in schizophrenia candidate genes.

Girard SL, Dion PA, Bourassa CV, Geoffroy S, Lachance-Touchette P, Barhdadi A, Langlois M, Joober R, Krebs MO, Dubé MP, Rouleau GA.

PLoS One. 2015 Jun 3;10(6):e0128988. doi: 10.1371/journal.pone.0128988. eCollection 2015.

9.

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes.

Guipponi M, Santoni FA, Setola V, Gehrig C, Rotharmel M, Cuenca M, Guillin O, Dikeos D, Georgantopoulos G, Papadimitriou G, Curtis L, Méary A, Schürhoff F, Jamain S, Avramopoulos D, Leboyer M, Rujescu D, Pulver A, Campion D, Siderovski DP, Antonarakis SE.

PLoS One. 2014 Nov 24;9(11):e112745. doi: 10.1371/journal.pone.0112745. eCollection 2014. Erratum in: PLoS One. 2015;10(10):e0141630.

10.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE.

Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Erratum in: Nat Genet. 2012 Apr;44(4):471.

11.

Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia.

Tang J, Fan Y, Li H, Xiang Q, Zhang DF, Li Z, He Y, Liao Y, Wang Y, He F, Zhang F, Shugart YY, Liu C, Tang Y, Chan RCK, Wang CY, Yao YG, Chen X.

J Genet Genomics. 2017 Jun 20;44(6):295-306. doi: 10.1016/j.jgg.2017.05.005. Epub 2017 Jun 8.

PMID:
28645778
12.

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.

13.

Loss-of-function de novo mutations play an important role in severe human neural tube defects.

Lemay P, Guyot MC, Tremblay É, Dionne-Laporte A, Spiegelman D, Henrion É, Diallo O, De Marco P, Merello E, Massicotte C, Désilets V, Michaud JL, Rouleau GA, Capra V, Kibar Z.

J Med Genet. 2015 Jul;52(7):493-7. doi: 10.1136/jmedgenet-2015-103027. Epub 2015 Mar 24.

PMID:
25805808
14.

Vitamin D-related genes are subjected to significant de novo mutation burdens in autism spectrum disorder.

Li J, Wang L, Yu P, Shi L, Zhang K, Sun ZS, Xia K.

Am J Med Genet B Neuropsychiatr Genet. 2017 Apr 13. doi: 10.1002/ajmg.b.32543. [Epub ahead of print]

PMID:
28407358
15.

A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression.

Knight HM, Pickard BS, Maclean A, Malloy MP, Soares DC, McRae AF, Condie A, White A, Hawkins W, McGhee K, van Beck M, MacIntyre DJ, Starr JM, Deary IJ, Visscher PM, Porteous DJ, Cannon RE, St Clair D, Muir WJ, Blackwood DH.

Am J Hum Genet. 2009 Dec;85(6):833-46. doi: 10.1016/j.ajhg.2009.11.003.

16.

Genome-wide characteristics of de novo mutations in autism.

Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, Walker S, Howe JL, Wang Z, MacDonald JR, Chan A, D'Abate L, Deneault E, Siu MT, Tammimies K, Uddin M, Zarrei M, Wang M, Li Y, Wang J, Wang J, Yang H, Bookman M, Bingham J, Gross SS, Loy D, Pletcher M, Marshall CR, Anagnostou E, Zwaigenbaum L, Weksberg R, Fernandez BA, Roberts W, Szatmari P, Glazer D, Frey BJ, Ring RH, Xu X, Scherer SW.

NPJ Genom Med. 2016 Aug 3;1:160271-1602710.

17.

De novo truncating mutation in Kinesin 17 associated with schizophrenia.

Tarabeux J, Champagne N, Brustein E, Hamdan FF, Gauthier J, Lapointe M, Maios C, Piton A, Spiegelman D, Henrion E; Synapse to Disease Team, Millet B, Rapoport JL, Delisi LE, Joober R, Fathalli F, Fombonne E, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Lafrenière RG, Drapeau P, Krebs MO, Rouleau GA.

Biol Psychiatry. 2010 Oct 1;68(7):649-56. doi: 10.1016/j.biopsych.2010.04.018. Epub 2010 Jun 19.

PMID:
20646681
18.

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW.

JAMA Psychiatry. 2013 Jun;70(6):582-90. doi: 10.1001/jamapsychiatry.2013.1195.

PMID:
23553203
19.

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE.

Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989.

20.

Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha.

Carroll LS, Williams NM, Moskvina V, Russell E, Norton N, Williams HJ, Peirce T, Georgieva L, Dwyer S, Grozeva D, Greene E, Farmer A, McGuffin P, Morris DW, Corvin A, Gill M, Rujescu D, Sham P, Holmans P, Jones I, Kirov G, Craddock N, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2010 Nov;15(11):1101-11. doi: 10.1038/mp.2009.96. Epub 2009 Sep 29.

PMID:
19786960

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