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The New England journal of medicine DOI:10.1056/NEJMoa1314432

Somatic Mutations in Cerebral Cortical Malformations.

Publication TypeJournal Article
Year of Publication2014
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, Walsh, CA
JournalThe New England journal of medicine
Volume371
Issue8
Pages733-743
Date Published2014/08/21
ISSN0028-4793
Abstract

Although 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.

URLhttp://www.nejm.org/doi/abs/10.1056/NEJMoa1314432?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed
DOI10.1056/NEJMoa1314432
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/25140959?dopt=Abstract