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2014
Synaptic, transcriptional and chromatin genes disrupted in autism.De Rubeis, S., He X., Goldberg AP, Poultney CS, Samocha K., Ercument Cicek A., Kou Y., Liu L., Fromer M., Walker S., Singh T., Klei L., Kosmicki J., Fu SC, Aleksic B., Biscaldi M., Bolton PF, Brownfeld JM, Cai J., Campbell NG, et al. Nature, 2014/11/13, Volume 515, Issue 7526, p.209-15, (2014) Read More / View Supplemental Materials
Abstract
A framework for the interpretation of de novo mutation in human disease.Samocha, KE, Robinson EB, Sanders SJ, Stevens C., Sabo A., McGrath LM, Kosmicki JA, Rehnström K., Mallick S., Kirby A., Wall DP, Macarthur DG, Gabriel SB, DePristo M., Purcell SM, Palotie A., Boerwinkle E., Buxbaum JD, Cook EH Jr, Gibbs RA, et al. Nature genetics, 2014/08/03, (2014) Read More / View Supplemental Materials
Abstract
2013
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.Kirby, A., Gnirke A., Jaffe DB, Barešová V., Pochet N., Blumenstiel B., Ye C., Aird D., Stevens C., Robinson JT, Cabili MN, Gat-Viks I., Kelliher E., Daza R., DeFelice M., Hůlková H., Sovová J., Vylet'al P., Antignac C., Guttman M., et al. Nature genetics, 2013/03/01, Volume 45, Issue 3, p.299-303, (2013) Read More / View Supplemental Materials
Abstract
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.Lim, ET, Raychaudhuri S., Sanders SJ, Stevens C., Sabo A., Macarthur DG, Neale BM, Kirby A., Ruderfer DM, Fromer M., Lek M., Liu L., Flannick J., Ripke S., Nagaswamy U., Muzny D., Reid JG, Hawes A., Newsham I., Wu Y., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.235-42, (2013) Read More / View Supplemental Materials
Abstract
2012
zCall: A Rare Variant Caller for Array-based Genotyping.Goldstein, JI, Crenshaw A., Carey J., Grant G., Maguire J., Fromer M., O'Dushlaine C., Moran JL, Chambert K., Stevens C., Swedish Schizophrenia Consortium, ARRA Autism Sequencing Consortium, Sklar P., Hultman CM, Purcell S., McCarroll S., Sullivan PF, Daly M. J., and Neale BM Bioinformatics (Oxford, England), 2012/07/27, (2012) Read More / View Supplemental Materials
Abstract
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., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials
Abstract
2011
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.Rivas, MA, Beaudoin M., Gardet A., Stevens C., Sharma Y., Zhang CK, Boucher G., Ripke S., Ellinghaus D., Burtt N., Fennell T., Kirby A., Latiano A., Goyette P., Green T., Halfvarson J., Haritunians T., Korn JM, Kuruvilla F., Lagacé C., et al. Nature genetics, 2011/10/09, Volume 43, Issue 11, p.1066-73, (2011) Read More / View Supplemental Materials
Abstract
2010
LRRK2 is involved in the IFN-gamma response and host response to pathogens.Gardet, A., Benita Y., Li C., Sands BE, Ballester I., Stevens C., Korzenik JR, Rioux JD, Daly M. J., Xavier RJ, and Podolsky DK Journal of immunology (Baltimore, Md. : 1950), 2010/11/01, Volume 185, Issue 9, p.5577-85, (2010) Read More / View Supplemental Materials
Abstract
  • Showing 1-8 of 8 Results