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De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M. Iossifov I, et al. Among authors: kramer m. Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009. Neuron. 2012. PMID: 22542183 Free PMC article.
Genome-wide in situ exon capture for selective resequencing.
Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ, Albert TJ, Hannon GJ, McCombie WR. Hodges E, et al. Among authors: kramer m. Nat Genet. 2007 Dec;39(12):1522-7. doi: 10.1038/ng.2007.42. Epub 2007 Nov 4. Nat Genet. 2007. PMID: 17982454
A comparative analysis of exome capture.
Parla JS, Iossifov I, Grabill I, Spector MS, Kramer M, McCombie WR. Parla JS, et al. Among authors: kramer m. Genome Biol. 2011 Sep 29;12(9):R97. doi: 10.1186/gb-2011-12-9-r97. Genome Biol. 2011. PMID: 21958622 Free PMC article.
A hybrid likelihood model for sequence-based disease association studies.
Chen YC, Carter H, Parla J, Kramer M, Goes FS, Pirooznia M, Zandi PP, McCombie WR, Potash JB, Karchin R. Chen YC, et al. Among authors: kramer m. PLoS Genet. 2013;9(1):e1003224. doi: 10.1371/journal.pgen.1003224. Epub 2013 Jan 24. PLoS Genet. 2013. PMID: 23358228 Free PMC article.
708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.
Thomson PA, Parla JS, McRae AF, Kramer M, Ramakrishnan K, Yao J, Soares DC, McCarthy S, Morris SW, Cardone L, Cass S, Ghiban E, Hennah W, Evans KL, Rebolini D, Millar JK, Harris SE, Starr JM, MacIntyre DJ; Generation Scotland; McIntosh AM, Watson JD, Deary IJ, Visscher PM, Blackwood DH, McCombie WR, Porteous DJ. Thomson PA, et al. Among authors: kramer m. Mol Psychiatry. 2014 Jun;19(6):668-75. doi: 10.1038/mp.2013.68. Epub 2013 Jun 4. Mol Psychiatry. 2014. PMID: 23732877 Free PMC article.
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. McCarthy SE, et al. Among authors: kramer m. Mol Psychiatry. 2014 Jun;19(6):652-8. doi: 10.1038/mp.2014.29. Epub 2014 Apr 29. Mol Psychiatry. 2014. PMID: 24776741 Free PMC article.
Whole genome de novo assemblies of three divergent strains of rice, Oryza sativa, document novel gene space of aus and indica.
Schatz MC, Maron LG, Stein JC, Hernandez Wences A, Gurtowski J, Biggers E, Lee H, Kramer M, Antoniou E, Ghiban E, Wright MH, Chia JM, Ware D, McCouch SR, McCombie WR. Schatz MC, et al. Among authors: kramer m. Genome Biol. 2014;15(11):506. doi: 10.1186/PREACCEPT-2784872521277375. Genome Biol. 2014. PMID: 25468217 Free PMC article.
4,656 results