Scientific Publications

Somatic Mutations in Cerebral Cortical Malformations.

Publication TypeJournal Article
AuthorsJamuar, 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, Leventer RJ, Shen Y., Wu BL, Barkovich AJ, Sahin M., Chang BS, Bamshad M., Nickerson DA, Shendure J., Poduri A., Yu TW, and Walsh CA
AbstractAlthough there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated.
Year of Publication2014
JournalThe New England journal of medicine
Volume371
Issue8
Pages733-743
Date Published (YYYY/MM/DD)2014/08/21
ISSN Number0028-4793
DOI10.1056/NEJMoa1314432
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/25140959?dopt=Abstract