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Items: 1 to 20 of 100

1.

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.

2.

De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample.

Kranz TM, Harroch S, Manor O, Lichtenberg P, Friedlander Y, Seandel M, Harkavy-Friedman J, Walsh-Messinger J, Dolgalev I, Heguy A, Chao MV, Malaspina D.

Schizophr Res. 2015 Aug;166(1-3):119-24. doi: 10.1016/j.schres.2015.05.042. Epub 2015 Jun 16.

3.

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.

4.

A complete genetic association scan of the 22q11 deletion region and functional evidence reveal an association between DGCR2 and schizophrenia.

Shifman S, Levit A, Chen ML, Chen CH, Bronstein M, Weizman A, Yakir B, Navon R, Darvasi A.

Hum Genet. 2006 Sep;120(2):160-70. Epub 2006 Jun 17.

PMID:
16783572
5.

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.

6.

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Xu B, Ionita-Laza I, Roos JL, Boone B, Woodrick S, Sun Y, Levy S, Gogos JA, Karayiorgou M.

Nat Genet. 2012 Dec;44(12):1365-9. doi: 10.1038/ng.2446. Epub 2012 Oct 3.

7.

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
8.

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.

9.

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.

Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW.

Hum Mol Genet. 2008 Dec 15;17(24):4045-53. doi: 10.1093/hmg/ddn307. Epub 2008 Sep 20. Erratum in: Hum Mol Genet. 2009 May 1;18(9):1717.

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.

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
12.

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Genovese G, Fromer M, Stahl EA, Ruderfer DM, Chambert K, Landén M, Moran JL, Purcell SM, Sklar P, Sullivan PF, Hultman CM, McCarroll SA.

Nat Neurosci. 2016 Nov;19(11):1433-1441. doi: 10.1038/nn.4402. Epub 2016 Oct 3.

13.

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.

Takata A, Ionita-Laza I, Gogos JA, Xu B, Karayiorgou M.

Neuron. 2016 Mar 2;89(5):940-7. doi: 10.1016/j.neuron.2016.02.024.

14.

Strong association of de novo copy number mutations with sporadic schizophrenia.

Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M.

Nat Genet. 2008 Jul;40(7):880-5. doi: 10.1038/ng.162. Epub 2008 May 30.

PMID:
18511947
15.

Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach.

Williams NM, Spurlock G, Norton N, Williams HJ, Hamshere ML, Krawczak M, Kirov G, Nikolov I, Georgieva L, Jones S, Cardno AG, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2002;7(10):1092-100.

16.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ.

Nature. 2012 Apr 4;485(7397):242-5. doi: 10.1038/nature11011.

17.

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.

18.

Copy number variation and psychiatric disease risk.

Levy RJ, Xu B, Gogos JA, Karayiorgou M.

Methods Mol Biol. 2012;838:97-113. doi: 10.1007/978-1-61779-507-7_4.

PMID:
22228008
19.

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW.

Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945.

20.

Systematic mutation analysis of the catechol O-methyltransferase gene as a candidate gene for schizophrenia.

Chen CH, Lee YR, Chung MY, Wei FC, Koong FJ, Shaw CK, Yeh JI, Hsiao KJ.

Am J Psychiatry. 1999 Aug;156(8):1273-5.

PMID:
10450274

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