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Page 1
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. O'Roak BJ, et al. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989. Nature. 2012. PMID: 22495309 Free PMC article.
Evidence for involvement of GNB1L in autism.
Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z. Chen YZ, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):61-71. doi: 10.1002/ajmg.b.32002. Epub 2011 Nov 16. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22095694 Free PMC article.
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Korvatska O, et al. Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16. Hum Mol Genet. 2013. PMID: 23595882 Free PMC article.
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Norton N, et al. Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25. Am J Hum Genet. 2011. PMID: 21353195 Free PMC article.
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers.
Kumar A, White TA, MacKenzie AP, Clegg N, Lee C, Dumpit RF, Coleman I, Ng SB, Salipante SJ, Rieder MJ, Nickerson DA, Corey E, Lange PH, Morrissey C, Vessella RL, Nelson PS, Shendure J. Kumar A, et al. Proc Natl Acad Sci U S A. 2011 Oct 11;108(41):17087-92. doi: 10.1073/pnas.1108745108. Epub 2011 Sep 26. Proc Natl Acad Sci U S A. 2011. PMID: 21949389 Free PMC article.