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2015
No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.Murdoch, JD, Gupta AR, Sanders SJ, Walker MF, Keaney J., Fernandez TV, Murtha MT, Anyanwu S., Ober GT, Raubeson MJ, DiLullo NM, Villa N., Waqar Z., Sullivan C., Gonzalez L., Willsey AJ, Choe SY, Neale BM, Daly M. J., and State MW PLoS genetics, 2015/01/01, Volume 11, Issue 1, p.e1004852, (2015) Read More / View Supplemental Materials
Abstract
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
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
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism.Yu, TW, Chahrour MH, Coulter ME, Jiralerspong S., Okamura-Ikeda K., Ataman B., Schmitz-Abe K., Harmin DA, Adli M., Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J., Nasir RH, Ware J., et al. Neuron, 2013/01/23, Volume 77, Issue 2, p.259-273, (2013) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results