Somatic Mutations in Cerebral Cortical Malformations
Somatic Mutations in Cerebral Cortical Malformations
About this item
Full title
Author / Creator
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 and Walsh, Christopher A
Publisher
Waltham, MA: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
Waltham, MA: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
Somatic mutations can cause brain malformations but may escape detection if their prevalence in blood is low. The authors of this study used deep-coverage targeting sequencing to gauge the extent to which somatic mutations cause relatively common forms of brain malformation.
Somatic mutation, a postzygotic event, leads to two or more populations...
Alternative Titles
Full title
Somatic Mutations in Cerebral Cortical Malformations
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4274952
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4274952
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa1314432
