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2015
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination.Nakayama, T., Al-Maawali A., El-Quessny M., Rajab A., Khalil S., Stoler JM, Tan WH, Nasir R., Schmitz-Abe K., Hill RS, Partlow JN, Al-Saffar M., Servattalab S., LaCoursiere CM, Tambunan DE, Coulter ME, Elhosary PC, Gorski G., Barkovich AJ, Markianos K., et al. American journal of human genetics, 2015/04/08, (2015) Read More / View Supplemental Materials
Abstract
mTOR pathway mutations cause hemimegalencephaly and focal cortical dysplasia.D'Gama, AM, Geng Y., Couto JA, Martin B., Boyle EA, LaCoursiere CM, Hossain A., Hatem NE, Barry B., Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J., Mathern GW, Walsh CA, and Poduri A. Annals of neurology, 2015/01/19, (2015) Read More / View Supplemental Materials
Abstract
2014
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
Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain.Cai, X., Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A., and Walsh CA Cell reports, 2014/08/20, (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 1-6 of 6 Results