Somatic Mutations in Cerebral Cortical Malformations | Zendy

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

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Somatic Mutations in Cerebral Cortical Malformations

Author(s) -

Saumya Shekhar Jamuar,

Anh-Thu N. Lam,

Martin Kircher,

Alissa M. D’Gama,

Jian Wang,

Brenda J. Barry,

Xiaochang Zhang,

Robert Hill,

Jennifer N. Partlow,

Aldo Rozzo,

Sarah Servattalab,

Bhaven K. Mehta,

Meral Topçu,

Dina Amrom,

Eva Andermann,

Bernard Dan,

Elena Parrini,

Renzo Guerrini,

Ingrid E. Scheffer,

Samuel F. Berkovic,

Richard J. Leventer,

Yiping Shen,

Bai Lin Wu,

A. James Barkovich,

Mustafa Şahin,

Bernard S. Chang,

Michael J. Bamshad,

Deborah A. Nickerson,

Jay Shendure,

Annapurna Poduri,

Timothy W. Yu,

Christopher A. Walsh

Publication year - 2014

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa1314432

Subject(s) - somatic cell , medicine , germline mutation , mutation , genetics , disease , neuroscience , pathology , gene , biology

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.

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