Somatic Mutations in Cerebral Cortical Malformations

Shekhar Jamuar, Saumya; N. Lam, Anh-Thu; Kircher, Martin; M. D’Gama, Alissa; Wang, Jian; J. Barry, Brenda; Zhang, Xiaochang; Hill, Robert; N. Partlow, Jennifer; Rozzo, Aldo; Servattalab, Sarah; K. Mehta, Bhaven; Topçu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; E. Scheffer, Ingrid; F. Berkovic, Samuel; J. Leventer, Richard; Shen, Yiping; Lin Wu, Bai; James Barkovich, A.; Şahin, Mustafa; S. Chang, Bernard; J. Bamshad, Michael; A. Nickerson, Deborah; Shendure, Jay; Poduri, Annapurna; W. Yu, Timothy; A. Walsh, Christopher

doi:10.1056/nejmoa1314432

Public

Somatic Mutations in Cerebral Cortical Malformations

Published in New England Journal of Medicine • Aug 20, 2014

Authors:

Saumya Shekhar Jamuar

Anh-Thu N. Lam

Martin Kircher

Abstract

BACKGROUND: 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. METHODS: Using a customized pan...

Subject

Somatic cell

Medicine

Germline mutation

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