Scientific Publications

Search by Keyword(s)
Found 10 results

Filters: Author is Walsh, CA  [Clear All Filters]

Search Results

  • Showing 1-10 of 10 Results
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.1240-57, (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
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
CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis.Manzini, MC, Xiong L., Shaheen R., Tambunan DE, Di Costanzo S., Mitisalis V., Tischfield DJ, Cinquino A., Ghaziuddin M., Christian M., Jiang Q., Laurent S., Nanjiani ZA, Rasheed S., Hill RS, Lizarraga SB, Gleason D., Sabbagh D., Salih MA, Alkuraya FS, et al. Cell reports, 2014/07/23, (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
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 1-10 of 10 Results