Somatic mutations in cerebral cortical malformations.

doi:10.1056/NEJMoa1314432

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Article

Somatic mutations in cerebral cortical malformations.

The New England journal of medicine - 21 Aug 2014

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

Abstract excerpt

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 panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing...

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PMID: 25140959
DOI: 10.1056/NEJMoa1314432
PMCID: PMC4274952

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DCX
FLNA

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