Somatic mutations in cerebral cortical malformations.

S Jamuar, Saumya; N Lam, Anh-Thu; Kircher, Martin; M D'Gama, Alissa; Wang, Jian; J Barry, Brenda; Zhang, Xiaochang; Sean Hill, Robert; N Partlow, Jennifer; Rozzo, Aldo; Servattalab, Sarah; K Mehta, Bhaven; Topcu, 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; Sahin, Mustafa; S Chang, Bernard; Bamshad, Michael; A Nickerson, Deborah; Shendure, Jay; Poduri, Annapurna; W Yu, Timothy; A Walsh, Christopher

doi:10.1056/nejmoa1314432

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Somatic mutations in cerebral cortical malformations.

Shared by NobleBlocks on Aug 21, 2014 • 12:00 AM UTC

Authors:

Saumya S 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...

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