Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/105719
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dc.contributor.author | Stessman, H. | - |
dc.contributor.author | Xiong, B. | - |
dc.contributor.author | Coe, B. | - |
dc.contributor.author | Wang, T. | - |
dc.contributor.author | Hoekzema, K. | - |
dc.contributor.author | Fenckova, M. | - |
dc.contributor.author | Kvarnung, M. | - |
dc.contributor.author | Gerdts, J. | - |
dc.contributor.author | Trinh, S. | - |
dc.contributor.author | Cosemans, N. | - |
dc.contributor.author | Vives, L. | - |
dc.contributor.author | Lin, J. | - |
dc.contributor.author | Turner, T. | - |
dc.contributor.author | Santen, G. | - |
dc.contributor.author | Ruivenkamp, C. | - |
dc.contributor.author | Kriek, M. | - |
dc.contributor.author | Van Haeringen, A. | - |
dc.contributor.author | Aten, E. | - |
dc.contributor.author | Friend, K. | - |
dc.contributor.author | Liebelt, J. | - |
dc.contributor.author | et al. | - |
dc.date.issued | 2017 | - |
dc.identifier.citation | Nature Genetics, 2017; 49(4):515-526 | - |
dc.identifier.issn | 1061-4036 | - |
dc.identifier.issn | 1546-1718 | - |
dc.identifier.uri | http://hdl.handle.net/2440/105719 | - |
dc.description.abstract | Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease. | - |
dc.description.statementofresponsibility | Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gecz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles Schwartz, R Frank Kooy, Geert Vandeweyer, Celine Helsmoortel, Corrado Romano, Antonino Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G Amaral, Ingrid E Scheffer, Martin B Delatycki, Paul J Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells-Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael A Bernier, Evan E Eichler | - |
dc.language.iso | en | - |
dc.publisher | Nature Publishing Group | - |
dc.rights | © 2017 Nature America, Inc., part of Springer Nature. All rights reserved. | - |
dc.source.uri | http://dx.doi.org/10.1038/ng.3792 | - |
dc.subject | Humans | - |
dc.subject | Autistic Disorder | - |
dc.subject | Developmental Disabilities | - |
dc.subject | Phenotype | - |
dc.subject | Mutation | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Intellectual Disability | - |
dc.title | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1038/ng.3792 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/566759 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1044175 | - |
dc.relation.grant | http://purl.org/au-research/grants/nhmrc/1006110 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Barnett, C. [0000-0003-1717-3824] | - |
dc.identifier.orcid | Haan, E. [0000-0002-7310-5124] | - |
dc.identifier.orcid | Shaw, M. [0000-0002-5060-190X] | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest 3 Genetics publications |
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