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Journal Abstract Search

1965 related items for PubMed ID: 22495306

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  • 4. 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, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ.
    Nature; 2012 Apr 04; 485(7397):242-5. PubMed ID: 22495311
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  • 6. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.
    Kamiya K, Kaneda M, Sugawara T, Mazaki E, Okamura N, Montal M, Makita N, Tanaka M, Fukushima K, Fujiwara T, Inoue Y, Yamakawa K.
    J Neurosci; 2004 Mar 17; 24(11):2690-8. PubMed ID: 15028761
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  • 7. A de novo convergence of autism genetics and molecular neuroscience.
    Krumm N, O'Roak BJ, Shendure J, Eichler EE.
    Trends Neurosci; 2014 Feb 17; 37(2):95-105. PubMed ID: 24387789
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  • 8. Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes.
    Torrico B, Shaw AD, Mosca R, Vivó-Luque N, Hervás A, Fernàndez-Castillo N, Aloy P, Bayés M, Fullerton JM, Cormand B, Toma C.
    J Psychiatry Neurosci; 2019 Sep 01; 44(5):350-359. PubMed ID: 31094488
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  • 9. Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
    Wang L, Zhang Y, Li K, Wang Z, Wang X, Li B, Zhao G, Fang Z, Ling Z, Luo T, Xia L, Li Y, Guo H, Hu Z, Li J, Sun Z, Xia K.
    Mol Autism; 2020 Oct 06; 11(1):75. PubMed ID: 33023636
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  • 10. Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
    Toma C, Torrico B, Hervás A, Valdés-Mas R, Tristán-Noguero A, Padillo V, Maristany M, Salgado M, Arenas C, Puente XS, Bayés M, Cormand B.
    Mol Psychiatry; 2014 Jul 06; 19(7):784-90. PubMed ID: 23999528
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  • 11. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.
    Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K.
    Neurology; 2009 Sep 29; 73(13):1046-53. PubMed ID: 19786696
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  • 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 02; 89(5):940-7. PubMed ID: 26938441
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  • 14. Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
    Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH.
    Mol Psychiatry; 2003 Feb 02; 8(2):186-94. PubMed ID: 12610651
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  • 18. Excess of rare, inherited truncating mutations in autism.
    Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE.
    Nat Genet; 2015 Jun 02; 47(6):582-8. PubMed ID: 25961944
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  • 19. Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.
    Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.
    Seizure; 2018 Aug 02; 60():91-93. PubMed ID: 29929112
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  • 20. The contribution of de novo coding mutations to autism spectrum disorder.
    Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M.
    Nature; 2014 Nov 13; 515(7526):216-21. PubMed ID: 25363768
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