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2014
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
2012
Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation.Yang, YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J., Tatarakis A., Mahajan MA, Samuels HH, Shi Y., Golden JA, Mahajnah M., Shenhav R., and Walsh CA Cell, 2012/11/21, Volume 151, Issue 5, p.1097-1112, (2012) Read More / View Supplemental Materials
Abstract
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.Reynolds, JJ, Walker AK, Gilmore EC, Walsh CA, and Caldecott KW Nucleic acids research, 2012/04/15, (2012) Read More / View Supplemental Materials
Abstract
2006
Brain evolution and uniqueness in the human genome.Amadio, JP, and Walsh CA Cell, 2006/09/22, Volume 126, Issue 6, p.1033-5, (2006) Read More / View Supplemental Materials
Abstract
  • Showing 1-5 of 5 Results