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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.
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.
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.
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.
Exome Sequencing of Familial Bipolar Disorder.
Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB. Goes FS, et al. Among authors: kramer m. JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251. JAMA Psychiatry. 2016. PMID: 27120077 Free PMC article.
Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia.
Teng S, Thomson PA, McCarthy S, Kramer M, Muller S, Lihm J, Morris S, Soares DC, Hennah W, Harris S, Camargo LM, Malkov V, McIntosh AM, Millar JK, Blackwood DH, Evans KL, Deary IJ, Porteous DJ, McCombie WR. Teng S, et al. Among authors: kramer m. Mol Psychiatry. 2018 May;23(5):1270-1277. doi: 10.1038/mp.2017.115. Epub 2017 Jun 20. Mol Psychiatry. 2018. PMID: 28630456 Free PMC article.
4,770 results