American Psychiatric Association Task Force on DSM-IV. Diagnostic and statistical manual of mental disorders: DSM-IV-TR (American Psychiatric Association, 2000)
Rosenberg, R. E. et al. Characteristics and concordance of autism spectrum disorders among 277 twin pairs. Arch. Pediatr. Adolesc. Med.163, 907–914 (2009) Article Google Scholar
Abrahams, B. S. & Geschwind, D. H. Advances in autism genetics: on the threshold of a new neurobiology. Nature Rev. Genet.9, 341–355 (2008) ArticleCAS Google Scholar
Bourgeron, T. A synaptic trek to autism. Curr. Opin. Neurobiol.19, 231–234 (2009) ArticleCAS Google Scholar
Zoghbi, H. Y. Postnatal neurodevelopmental disorders: meeting at the synapse? Science302, 826–830 (2003) ArticleADSCAS Google Scholar
Pinto, D. et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature466, 368–372 (2010) ArticleADSCAS Google Scholar
Tabuchi, K. et al. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science318, 71–76 (2007) ArticleADSCAS Google Scholar
Berkel, S. et al. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. Nature Genet.42, 489–491 (2010) ArticleMathSciNetCAS Google Scholar
Durand, C. M. et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nature Genet.39, 25–27 (2006) Article Google Scholar
Prasad, C. et al. Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype. Clin. Genet.57, 103–109 (2000) ArticleCAS Google Scholar
Wilson, H. L. et al. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J. Med. Genet.40, 575–584 (2003) ArticleCAS Google Scholar
Moessner, R. et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am. J. Hum. Genet.81, 1289–1297 (2007) ArticleCAS Google Scholar
Gauthier, J. et al. Novel de novo SHANK3 mutation in autistic patients. Am. J. Med. Genet. B. Neuropsychiatr. Genet.150B, 421–424 (2009) ArticleCAS Google Scholar
Kim, E. et al. GKAP, a novel synaptic protein that interacts with the guanylate kinase-like domain of the PSD-95/SAP90 family of channel clustering molecules. J. Cell Biol.136, 669–678 (1997) ArticleCAS Google Scholar
Takeuchi, M. et al. SAPAPs. A family of PSD-95/SAP90-associated proteins localized at postsynaptic density. J. Biol. Chem.272, 11943–11951 (1997) ArticleCAS Google Scholar
Zoghbi, H. Y. & Warren, S. T. Neurogenetics: advancing the “next-generation” of brain research. Neuron68, 165–173 (2010) ArticleCAS Google Scholar
Moy, S. S. et al. Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice. Genes Brain Behav.3, 287–302 (2004) ArticleCAS Google Scholar
Hung, A. Y. et al. Smaller dendritic spines, weaker synaptic transmission, but enhanced spatial learning in mice lacking Shank1. J. Neurosci.28, 1697–1708 (2008) ArticleCAS Google Scholar
Redcay, E. & Courchesne, E. When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol. Psychiatry58, 1–9 (2005) Article Google Scholar
Langen, M. et al. Changes in the developmental trajectories of striatum in autism. Biol. Psychiatry66, 327–333 (2009) Article Google Scholar
Hollander, E. et al. Striatal volume on magnetic resonance imaging and repetitive behaviors in autism. Biol. Psychiatry58, 226–232 (2005) Article Google Scholar
Bourgeron, T. A synaptic trek to autism. Curr. Opin. Neurobiol.19, 231–234 (2009) ArticleCAS Google Scholar
Kwon, C. H. et al. Pten regulates neuronal arborization and social interaction in mice. Neuron50, 377–388 (2006) ArticleCAS Google Scholar
Bonaglia, M. C. et al. Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J. Med. Genet.43, 822–828 (2006) ArticleCAS Google Scholar
Irie, M. et al. Binding of neuroligins to PSD-95. Science277, 1511–1515 (1997) ArticleCAS Google Scholar
Kim, H. G. et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet.82, 199–207 (2008) ArticleCAS Google Scholar
Jamain, S. et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genet.34, 27–29 (2003) ArticleCAS Google Scholar
Silk, T. J. et al. Visuospatial processing and the function of prefrontal-parietal networks in autism spectrum disorders: a functional MRI study. Am. J. Psychiatry163, 1440–1443 (2006) Article Google Scholar
Horwitz, B., Rumsey, J. M., Grady, C. L. & Rapoport, S. I. The cerebral metabolic landscape in autism. Intercorrelations of regional glucose utilization. Arch. Neurol.45, 749–755 (1988) ArticleCAS Google Scholar
Sears, L. L. et al. An MRI study of the basal ganglia in autism. Prog. Neuropsychopharmacol. Biol. Psychiatry23, 613–624 (1999) ArticleCAS Google Scholar
Welch, J. M. et al. Cortico-striatal synaptic defects and OCD-like behaviours in _Sapap3_-mutant mice. Nature448, 894–900 (2007) ArticleADSCAS Google Scholar
Shmelkov, S. V. et al. Slitrk5 deficiency impairs corticostriatal circuitry and leads to obsessive-compulsive-like behaviors in mice. Nature Med.16, 598–602 (2010) ArticleCAS Google Scholar
Graybiel, A. M. Habits, rituals, and the evaluative brain. Annu. Rev. Neurosci.31, 359–387 (2008) ArticleCAS Google Scholar
McFarlane, H. G. et al. Autism-like behavioral phenotypes in BTBR T+tf/J mice. Genes Brain Behav.7, 152–163 (2008) ArticleCAS Google Scholar
Blundell, J. et al. Neuroligin-1 deletion results in impaired spatial memory and increased repetitive behavior. J. Neurosci.30, 2115–2129 (2010) ArticleCAS Google Scholar
Etherton, M. R., Blaiss, C. A., Powell, C. M. & Sudhof, T. C. Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments. Proc. Natl Acad. Sci. USA106, 17998–18003 (2009) ArticleADSCAS Google Scholar
Insel, T. R. & Fernald, R. D. How the brain processes social information: searching for the social brain. Annu. Rev. Neurosci.27, 697–722 (2004) ArticleCAS Google Scholar
Ebstein, R. P., Israel, S., Chew, S. H., Zhong, S. & Knafo, A. Genetics of human social behavior. Neuron65, 831–844 (2010) ArticleCAS Google Scholar
Welch, J. M., Wang, D. & Feng, G. Differential mRNA expression and protein localization of the SAP90/PSD-95-associated proteins (SAPAPs) in the nervous system of the mouse. J. Comp. Neurol.472, 24–39 (2004) ArticleCAS Google Scholar
Vorhees, C. V. & Williams, M. T. Morris water maze: procedures for assessing spatial and related forms of learning and memory. Nature Protocols1, 848–858 (2006) Article Google Scholar
Yin, H. H., Davis, M. I., Ronesi, J. A. & Lovinger, D. M. The role of protein synthesis in striatal long-term depression. J. Neurosci.26, 11811–11820 (2006) ArticleCAS Google Scholar
Malenka, R. C. & Kocsis, J. D. Presynaptic actions of carbachol and adenosine on corticostriatal synaptic transmission studied in vitro . J. Neurosci.8, 3750–3756 (1988) ArticleCAS Google Scholar
Myme, C. I., Sugino, K., Turrigiano, G. G. & Nelson, S. B. The NMDA-to-AMPA ratio at synapses onto layer 2/3 pyramidal neurons is conserved across prefrontal and visual cortices. J. Neurophysiol.90, 771–779 (2003) ArticleCAS Google Scholar