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Items: 1 to 20 of 94

1.

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.

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.

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.

4.

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 Nov 24. Erratum in: PLoS One. 2015;10(10):e0141630.

5.

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.

Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT.

Orphanet J Rare Dis. 2015 Aug 25;10:103. doi: 10.1186/s13023-015-0314-x.

6.

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.

7.

Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Rees E, Kirov G, Walters JT, Richards AL, Howrigan D, Kavanagh DH, Pocklington AJ, Fromer M, Ruderfer DM, Georgieva L, Carrera N, Gormley P, Palta P, Williams H, Dwyer S, Johnson JS, Roussos P, Barker DD, Banks E, Milanova V, Rose SA, Chambert K, Mahajan M, Scolnick EM, Moran JL, Tsuang MT, Glatt SJ, Chen WJ, Hwu HG; Taiwanese Trios Exome Sequencing Consortium., Neale BM, Palotie A, Sklar P, Purcell SM, McCarroll SA, Holmans P, Owen MJ, O'Donovan MC.

Transl Psychiatry. 2015 Jul 21;5:e607. doi: 10.1038/tp.2015.99.

8.

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.

9.

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Kun-Rodrigues C, Ganos C, Guerreiro R, Schneider SA, Schulte C, Lesage S, Darwent L, Holmans P, Singleton A; International Parkinson's Disease Genomics Consortium (IPDGC)., Bhatia K, Bras J.

Hum Mol Genet. 2015 Dec 1;24(23):6711-20. doi: 10.1093/hmg/ddv376. Epub 2015 Sep 11.

10.

Phenotypic features of patients with schizophrenia carrying de novo gene mutations: a pilot study.

Malherbe PJ, Roos JL Jr, Ehlers R, Karayiorgou M, Roos JL.

Psychiatry Res. 2015 Jan 30;225(1-2):108-14. doi: 10.1016/j.psychres.2014.10.024. Epub 2014 Nov 6.

PMID:
25467704
11.

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15.

12.

Loss-of-function variants in schizophrenia risk and SETD1A as a candidate susceptibility gene.

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

Neuron. 2014 May 21;82(4):773-80. doi: 10.1016/j.neuron.2014.04.043.

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.

14.

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J.

Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30.

PMID:
22850527
15.
16.

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.

17.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.

18.

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

Gulsuner S, Walsh T, Watts AC, Lee MK, Thornton AM, Casadei S, Rippey C, Shahin H; Consortium on the Genetics of Schizophrenia (COGS).; PAARTNERS Study Group., Nimgaonkar VL, Go RC, Savage RM, Swerdlow NR, Gur RE, Braff DL, King MC, McClellan JM.

Cell. 2013 Aug 1;154(3):518-29. doi: 10.1016/j.cell.2013.06.049.

19.

Rare variants in complex traits: novel identification strategies and the role of de novo mutations.

Jouan L, Gauthier J, Dion PA, Rouleau GA.

Hum Hered. 2012;74(3-4):215-25. doi: 10.1159/000346478. Epub 2013 Apr 11.

PMID:
23594499
20.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.

Ku CS, Polychronakos C, Tan EK, Naidoo N, Pawitan Y, Roukos DH, Mort M, Cooper DN.

Mol Psychiatry. 2013 Feb;18(2):141-53. doi: 10.1038/mp.2012.58. Epub 2012 May 29. Review.

PMID:
22641181

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