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2014
Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number.Hu, WF, Pomp O., Ben-Omran T., Kodani A., Henke K., Mochida GH, Yu TW, Woodworth MB, Bonnard C., Raj GS, Tan TT, Hamamy H., Masri A., Shboul M., Al Saffar M., Partlow JN, Al-Dosari M., Alazami A., Alowain M., Alkuraya FS, et al. Neuron, 2014/12/17, Volume 84, Issue 6, p.1240-1257, (2014) Read More / View Supplemental Materials
Abstract
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
Somatic Mutations in Cerebral Cortical Malformations.Jamuar, SS, Lam AT, Kircher M., D'Gama AM, Wang J., Barry BJ, Zhang X., Hill RS, Partlow JN, Rozzo A., Servattalab S., Mehta BK, Topcu M., Amrom D., Andermann E., Dan B., Parrini E., Guerrini R., Scheffer IE, Berkovic SF, et al. The New England journal of medicine, 2014/08/21, Volume 371, Issue 8, p.733-743, (2014) Read More / View Supplemental Materials
Abstract
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures.Zhang, X., Ling J., Barcia G., Jing L., Wu J., Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q., Poduri A., Partlow JN, Ville D., Dulac O., Yu TW, Lam AT, Servattalab S., Rodriguez J., Boddaert N., Munnich A., et al. American journal of human genetics, 2014/04/03, Volume 94, Issue 4, p.547-58, (2014) Read More / View Supplemental Materials
Abstract
2013
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