Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
About this item
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Author / Creator
Autism Sequencing Consortium , Lim, Elaine T , Uddin, Mohammed , De Rubeis, Silvia , Chan, Yingleong , Kamumbu, Anne S , Zhang, Xiaochang , D'Gama, Alissa M , Kim, Sonia N , Hill, Robert Sean , Goldberg, Arthur P , Poultney, Christopher , Minshew, Nancy J , Kushima, Itaru , Aleksic, Branko , Ozaki, Norio , Parellada, Mara , Arango, Celso , Penzol, Maria J , Carracedo, Angel , Kolevzon, Alexander , Hultman, Christina M , Weiss, Lauren A , Fromer, Menachem , Chiocchetti, Andreas G , Freitag, Christine M , Church, George M , Scherer, Stephen W , Buxbaum, Joseph D and Walsh, Christopher A
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Survey of postzygotic mosaic mutations (PZMs) in 5,947 trios with autism spectrum disorders (ASD) discovers differences in mutational properties between germline mutations and PZMs. Spatiotemporal analyses of the PZMs also revealed the association of the amygdala with ASD and implicated risk genes, including recurrent potential gain-of-function mut...
Alternative Titles
Full title
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Authors, Artists and Contributors
Author / Creator
Lim, Elaine T
Uddin, Mohammed
De Rubeis, Silvia
Chan, Yingleong
Kamumbu, Anne S
Zhang, Xiaochang
D'Gama, Alissa M
Kim, Sonia N
Hill, Robert Sean
Goldberg, Arthur P
Poultney, Christopher
Minshew, Nancy J
Kushima, Itaru
Aleksic, Branko
Ozaki, Norio
Parellada, Mara
Arango, Celso
Penzol, Maria J
Carracedo, Angel
Kolevzon, Alexander
Hultman, Christina M
Weiss, Lauren A
Fromer, Menachem
Chiocchetti, Andreas G
Freitag, Christine M
Church, George M
Scherer, Stephen W
Buxbaum, Joseph D
Walsh, Christopher A
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_495395
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_495395
Other Identifiers
ISSN
1097-6256
E-ISSN
1546-1726
DOI
10.1038/nn.4598
