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dc.contributor.authorLim, Elaine T.en_US
dc.contributor.authorUddin, Mohammeden_US
dc.contributor.authorDe Rubeis, Silviaen_US
dc.contributor.authorChan, Yingleongen_US
dc.contributor.authorKamumbu, Anne S.en_US
dc.contributor.authorZhang, Xiaochangen_US
dc.contributor.authorD'Gama, Alissaen_US
dc.contributor.authorKim, Sonia N.en_US
dc.contributor.authorHill, Robert Seanen_US
dc.contributor.authorGoldberg, Arthur P.en_US
dc.contributor.authorPoultney, Christopheren_US
dc.contributor.authorMinshew, Nancy J.en_US
dc.contributor.authorKushima, Itaruen_US
dc.contributor.authorAleksic, Brankoen_US
dc.contributor.authorOzaki, Norioen_US
dc.contributor.authorParellada, Maraen_US
dc.contributor.authorArango, Celsoen_US
dc.contributor.authorPenzol, Maria J.en_US
dc.contributor.authorCarracedo, Angelen_US
dc.contributor.authorKolevzon, Alexanderen_US
dc.contributor.authorHultman, Christina M.en_US
dc.contributor.authorWeiss, Lauren A.en_US
dc.contributor.authorFromer, Menachemen_US
dc.contributor.authorChiocchetti, Andreas G.en_US
dc.contributor.authorFreitag, Christine M.en_US
dc.contributor.authorChurch, George M.en_US
dc.contributor.authorScherer, Stephen W.en_US
dc.contributor.authorBuxbaum, Joseph D.en_US
dc.contributor.authorWalsh, Christopher A.en_US
dc.date.accessioned2018-02-26T20:44:14Z
dc.date.issued2017en_US
dc.identifier.citationLim, E. T., M. Uddin, S. De Rubeis, Y. Chan, A. S. Kamumbu, X. Zhang, A. D'Gama, et al. 2017. “Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder.” Nature neuroscience 20 (9): 1217-1224. doi:10.1038/nn.4598. http://dx.doi.org/10.1038/nn.4598.en
dc.identifier.issnen
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:34869010
dc.description.abstractWe systematically analyzed post-zygotic mutations (PZMs) in whole-exome sequences from the largest collection of trios (5,947) with autism spectrum disorder (ASD) available, including 282 unpublished trios, and performed re-sequencing using multiple independent technologies. We identified 7.5% of de novo mutations as PZMs, with 83.3% of these PZMs not discovered in previous studies. Damaging, non-synonymous PZMs within critical exons of prenatally-expressed genes were more common in ASD probands than controls (P<1×10-6), and genes carrying these PZMs were enriched for expression in the amygdala (P=5.4×10-3). Two genes (KLF16 and MSANTD2) were significantly enriched for PZMs genome-wide, and other PZMs involved genes (SCN2A, HNRNPU, SMARCA4) known to cause ASD or other neurodevelopmental disorders. PZMs constitute a significant proportion of de novo mutations and contribute importantly to ASD risk.en
dc.language.isoen_USen
dc.relation.isversionofdoi:10.1038/nn.4598en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC5672813/pdf/en
dash.licenseLAAen_US
dc.titleRates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorderen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNature neuroscienceen
dash.depositing.authorZhang, Xiaochangen_US
dc.date.available2018-02-26T20:44:14Z
dc.identifier.doi10.1038/nn.4598*
dash.authorsorderedfalse
dash.contributor.affiliatedD'Gama, Alissa
dash.contributor.affiliatedKim, Sonia
dash.contributor.affiliatedZhang, Xiaochang
dash.contributor.affiliatedWalsh, Christopher
dash.contributor.affiliatedHill, Robert
dash.contributor.affiliatedChurch, George


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