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2014
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
Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.Escott-Price, V., Bellenguez C., Wang LS, Choi SH, Harold D., Jones L., Holmans P., Gerrish A., Vedernikov A., Richards A., Destefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R., Jun G., Bis JC, Beecham GW, Grenier-Boley B., Russo G., et al. PloS one, 2014/01/01, Volume 9, Issue 6, p.e94661, (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
2012
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
  • Showing 1-4 of 4 Results