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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: parla js. 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: parla js. JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251. JAMA Psychiatry. 2016. PMID: 27120077 Free PMC article.
A comparative analysis of exome capture.
Parla JS, Iossifov I, Grabill I, Spector MS, Kramer M, McCombie WR. Parla JS, et al. 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. Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009. Neuron. 2012. PMID: 22542183 Free PMC article.
Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer.
Tamura K, Yu J, Hata T, Suenaga M, Shindo K, Abe T, MacGregor-Das A, Borges M, Wolfgang CL, Weiss MJ, He J, Canto MI, Petersen GM, Gallinger S, Syngal S, Brand RE, Rustgi A, Olson SH, Stoffel E, Cote ML, Zogopoulos G, Potash JB, Goes FS, McCombie RW, Zandi PP, Pirooznia M, Kramer M, Parla J, Eshleman JR, Roberts NJ, Hruban RH, Klein AP, Goggins M. Tamura K, et al. Proc Natl Acad Sci U S A. 2018 May 1;115(18):4767-4772. doi: 10.1073/pnas.1720588115. Epub 2018 Apr 18. Proc Natl Acad Sci U S A. 2018. PMID: 29669919 Free PMC article. Clinical Trial.
Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer.
Roberts NJ, Norris AL, Petersen GM, Bondy ML, Brand R, Gallinger S, Kurtz RC, Olson SH, Rustgi AK, Schwartz AG, Stoffel E, Syngal S, Zogopoulos G, Ali SZ, Axilbund J, Chaffee KG, Chen YC, Cote ML, Childs EJ, Douville C, Goes FS, Herman JM, Iacobuzio-Donahue C, Kramer M, Makohon-Moore A, McCombie RW, McMahon KW, Niknafs N, Parla J, Pirooznia M, Potash JB, Rhim AD, Smith AL, Wang Y, Wolfgang CL, Wood LD, Zandi PP, Goggins M, Karchin R, Eshleman JR, Papadopoulos N, Kinzler KW, Vogelstein B, Hruban RH, Klein AP. Roberts NJ, et al. Cancer Discov. 2016 Feb;6(2):166-75. doi: 10.1158/2159-8290.CD-15-0402. Epub 2015 Dec 9. Cancer Discov. 2016. PMID: 26658419 Free PMC article.