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A de novo convergence of autism genetics and molecular neuroscience
Highlights • Exome sequencing has identified rare mutations and novel genes in ASD and ID cases. • Targeted resequencing has confirmed association for several novel genes. • Results from exome sequencing of 1058 families suggests a convergence of functional pathways. • We review genetic and neurobio...
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| Published in: | Trends in neurosciences (Regular ed.) 2014-02, Vol.37 (2), p.95-105 |
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| Main Authors: | , , , |
| Format: | Article |
| Language: | English |
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| cites | cdi_FETCH-LOGICAL-c587t-4b7d97febbd9b3a023f0b006a767134e60fd07f3bf6748d653068cb8ea8fef963 |
| container_end_page | 105 |
| container_issue | 2 |
| container_start_page | 95 |
| container_title | Trends in neurosciences (Regular ed.) |
| container_volume | 37 |
| creator | Krumm, Niklas O’Roak, Brian J Shendure, Jay Eichler, Evan E |
| description | Highlights • Exome sequencing has identified rare mutations and novel genes in ASD and ID cases. • Targeted resequencing has confirmed association for several novel genes. • Results from exome sequencing of 1058 families suggests a convergence of functional pathways. • We review genetic and neurobiological evidence for chromatin, wnt, and synaptic function pathways. |
| doi_str_mv | 10.1016/j.tins.2013.11.005 |
| format | article |
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| fulltext | fulltext |
| identifier | ISSN: 0166-2236 |
| ispartof | Trends in neurosciences (Regular ed.), 2014-02, Vol.37 (2), p.95-105 |
| issn | 0166-2236 1878-108X |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4077788 |
| source | ScienceDirect Freedom Collection |
| subjects | Autism autism genetics autism spectrum disorder Autistic Disorder - genetics Chromatin copy number variant Exome - genetics exome sequencing Genes Genetic Predisposition to Disease Genetics Humans intellectual disability Kinases Neurobiology Neurology Neurosciences Neurosciences - trends Phosphorylation single nucleotide variant |
| title | A de novo convergence of autism genetics and molecular neuroscience |
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