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Items: 1 to 20 of 136

1.

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.

Bi C, Wu J, Jiang T, Liu Q, Cai W, Yu P, Cai T, Zhao M, Jiang YH, Sun ZS.

Hum Mutat. 2012 Dec;33(12):1635-8. doi: 10.1002/humu.22174. Epub 2012 Aug 24.

PMID:
22865819
2.

Using whole-exome sequencing to identify inherited causes of autism.

Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.

Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002.

3.

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.

4.

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.

5.

Sequencing of the ANKYRIN 3 gene (ANK3) encoding ankyrin G in bipolar disorder reveals a non-conservative amino acid change in a short isoform of ankyrin G.

Dedman A, McQuillin A, Kandaswamy R, Sharp S, Anjorin A, Gurling H.

Am J Med Genet B Neuropsychiatr Genet. 2012 Apr;159B(3):328-35. doi: 10.1002/ajmg.b.32030. Epub 2012 Feb 10.

PMID:
22328486
6.

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism.

Ionita-Laza I, Xu B, Makarov V, Buxbaum JD, Roos JL, Gogos JA, Karayiorgou M.

Proc Natl Acad Sci U S A. 2014 Jan 7;111(1):343-8. doi: 10.1073/pnas.1309475110. Epub 2013 Dec 16.

7.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Iqbal Z, Vandeweyer G, van der Voet M, Waryah AM, Zahoor MY, Besseling JA, Roca LT, Vulto-van Silfhout AT, Nijhof B, Kramer JM, Van der Aa N, Ansar M, Peeters H, Helsmoortel C, Gilissen C, Vissers LE, Veltman JA, de Brouwer AP, Frank Kooy R, Riazuddin S, Schenck A, van Bokhoven H, Rooms L.

Hum Mol Genet. 2013 May 15;22(10):1960-70. doi: 10.1093/hmg/ddt043. Epub 2013 Feb 5.

PMID:
23390136
8.

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.

9.

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF.

Hum Mol Genet. 2014 Jul 1;23(13):3481-9. doi: 10.1093/hmg/ddu056. Epub 2014 Feb 5.

10.

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.

11.

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.

12.

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.

Cukier HN, Dueker ND, Slifer SH, Lee JM, Whitehead PL, Lalanne E, Leyva N, Konidari I, Gentry RC, Hulme WF, Booven DV, Mayo V, Hofmann NK, Schmidt MA, Martin ER, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA.

Mol Autism. 2014 Jan 10;5(1):1. doi: 10.1186/2040-2392-5-1.

13.

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
14.

GABA/Glutamate synaptic pathways targeted by integrative genomic and electrophysiological explorations distinguish autism from intellectual disability.

Bonnet-Brilhault F, Alirol S, Blanc R, Bazaud S, Marouillat S, Thépault RA, Andres CR, Lemonnier É, Barthélémy C, Raynaud M, Toutain A, Gomot M, Laumonnier F.

Mol Psychiatry. 2016 Mar;21(3):411-8. doi: 10.1038/mp.2015.75. Epub 2015 Jun 9.

PMID:
26055424
15.

Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders.

Moreno-Ramos OA, Olivares AM, Haider NB, de Autismo LC, Lattig MC.

PLoS One. 2015 Sep 9;10(9):e0135927. doi: 10.1371/journal.pone.0135927. eCollection 2015 Sep 9.

16.

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

Fukai R, Hiraki Y, Yofune H, Tsurusaki Y, Nakashima M, Saitsu H, Tanaka F, Miyake N, Matsumoto N.

J Hum Genet. 2015 May;60(5):277-9. doi: 10.1038/jhg.2015.13. Epub 2015 Feb 19.

PMID:
25694107
17.

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.

18.

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder.

Tavassoli T, Kolevzon A, Wang AT, Curchack-Lichtin J, Halpern D, Schwartz L, Soffes S, Bush L, Grodberg D, Cai G, Buxbaum JD.

BMC Med Genet. 2014 Mar 20;15:35. doi: 10.1186/1471-2350-15-35.

19.

Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.

Chapman NH, Nato AQ Jr, Bernier R, Ankenman K, Sohi H, Munson J, Patowary A, Archer M, Blue EM, Webb SJ, Coon H, Raskind WH, Brkanac Z, Wijsman EM.

Hum Genet. 2015 Oct;134(10):1055-68. doi: 10.1007/s00439-015-1585-y. Epub 2015 Jul 24.

20.

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.

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