1. KoganMD, BlumbergSJ, SchieveLA, BoyleCA, PerrinJM, et al. (2009) Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics 124: 1395–1403.
2. Veenstra-VanderweeleJ, ChristianSL, CookEHJr (2004) Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet 5: 379–405.
3. ChakrabartiS, FombonneE (2005) Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry 162: 1133–1141.
4. BaileyA, Le CouteurA, GottesmanI, BoltonP, SimonoffE, et al. (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25: 63–77.
5. StankiewiczP, LupskiJR (2010) Structural variation in the human genome and its role in disease. Annu Rev Med 61: 437–455.
6. PintoD, PagnamentaAT, KleiL, AnneyR, MericoD, et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368–372.
7. LarsenFW, MouridsenSE (1997) The outcome in children with childhood autism and Asperger syndrome originally diagnosed as psychotic. A 30-year follow-up study of subjects hospitalized as children. Eur Child Adolesc Psychiatry 6: 181–190.
8. ReichenbergA, GrossR, WeiserM, BresnahanM, SilvermanJ, et al. (2006) Advancing paternal age and autism. Arch Gen Psychiatry 63: 1026–1032.
9. WebberC (2011) Functional Enrichment Analysis with Structural Variants: Pitfalls and Strategies. Cytogenet Genome Res 135: 277–85.
10. StateMW, LevittP (2011) The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci 14: 1499–1506.
11. WebberC, Hehir-KwaJY, NguyenDQ, de VriesBB, VeltmanJA, et al. (2009) Forging links between human mental retardation-associated CNVs and mouse gene knockout models. PLoS Genet 5: e1000531.
12. ShaikhTH, Haldeman-EnglertC, GeigerEA, PontingCP, WebberC (2011) Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes. Hum Mol Genet 20: 880–893.
13. GaiX, XieHM, PerinJC, TakahashiN, MurphyK, et al. (2012) Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry 17: 402–411.
14. NealeBM, KouY, LiuL, Ma'ayanA, SamochaKE, et al. (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485: 242–245.
15. O'RoakBJ, VivesL, GirirajanS, KarakocE, KrummN, et al. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485: 246–250.
16. Ben-DavidE, ShifmanS (2012) Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. PLoS Genet 8: e1002556.
17. GilmanSR, IossifovI, LevyD, RonemusM, WiglerM, et al. (2011) Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70: 898–907.
18. BasuSN, KolluR, Banerjee-BasuS (2009) AutDB: a gene reference resource for autism research. Nucleic Acids Res 37: D832–836.
19. SandersSJ, MurthaMT, GuptaAR, MurdochJD, RaubesonMJ, et al. (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485: 237–241.
20. LevyD, RonemusM, YamromB, LeeYH, LeottaA, et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70: 886–897.
21. SmithCL, EppigJT (2009) The Mammalian Phenotype Ontology: enabling robust annotation and comparative analysis. Wiley Interdiscip Rev Syst Biol Med 1: 390–399.
22. SupekF, BosnjakM, SkuncaN, SmucT (2011) REVIGO summarizes and visualizes long lists of gene ontology terms. PLoS One 6: e21800.
23. JeongH, MasonSP, BarabasiAL, OltvaiZN (2001) Lethality and centrality in protein networks. Nature 411: 41–42.
24. BourgeronT (2009) A synaptic trek to autism. Curr Opin Neurobiol 19: 231–234.
25. GreenD, CharmanT, PicklesA, ChandlerS, LoucasT, et al. (2009) Impairment in movement skills of children with autistic spectrum disorders. Dev Med Child Neurol 51: 311–316.
26. MingX, BrimacombeM, WagnerGC (2007) Prevalence of motor impairment in autism spectrum disorders. Brain Dev 29: 565–570.
27. StaplesKL, ReidG (2010) Fundamental movement skills and autism spectrum disorders. J Autism Dev Disord 40: 209–217.
28. WhiteSW, OswaldD, OllendickT, ScahillL (2009) Anxiety in children and adolescents with autism spectrum disorders. Clin Psychol Rev 29: 216–229.
29. Giovanardi RossiP, PosarA, ParmeggianiA (2000) Epilepsy in adolescents and young adults with autistic disorder. Brain Dev 22: 102–106.
30. SteffenburgS, GillbergC, SteffenburgU (1996) Psychiatric disorders in children and adolescents with mental retardation and active epilepsy. Arch Neurol 53: 904–912.
31. TuchmanRF, RapinI, ShinnarS (1991) Autistic and dysphasic children. II: Epilepsy. Pediatrics 88: 1219–1225.
32. KlinA (1993) Auditory brainstem responses in autism: brainstem dysfunction or peripheral hearing loss? J Autism Dev Disord 23: 15–35.
33. HitoglouM, VerveriA, AntoniadisA, ZafeiriouDI (2010) Childhood autism and auditory system abnormalities. Pediatr Neurol 42: 309–314.
34. DonaldsonAI, HeavnerKS, ZwolanTA (2004) Measuring progress in children with autism spectrum disorder who have cochlear implants. Arch Otolaryngol Head Neck Surg 130: 666–671.
35. BosmanEA, PennAC, AmbroseJC, KettleboroughR, StempleDL, et al. (2005) Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet 14: 3463–3476.
36. VitelliF, ViolaA, MorishimaM, PramparoT, BaldiniA, et al. (2003) TBX1 is required for inner ear morphogenesis. Hum Mol Genet 12: 2041–2048.
37. MoySS, NadlerJJ (2008) Advances in behavioral genetics: mouse models of autism. Mol Psychiatry 13: 4–26.
38. GotzJ, IttnerLM (2008) Animal models of Alzheimer's disease and frontotemporal dementia. Nat Rev Neurosci 9: 532–544.
39. CervinskiMA, FosterJD, VaughanRA (2010) Syntaxin 1A regulates dopamine transporter activity, phosphorylation and surface expression. Neuroscience 170: 408–416.
40. TangBL, GeeHY, LeeMG (2011) The cystic fibrosis transmembrane conductance regulator's expanding SNARE interactome. Traffic 12: 364–371.
41. EdelmannL, HansonPI, ChapmanER, JahnR (1995) Synaptobrevin binding to synaptophysin: a potential mechanism for controlling the exocytotic fusion machine. EMBO J 14: 224–231.
42. McMahonHT, MisslerM, LiC, SudhofTC (1995) Complexins: cytosolic proteins that regulate SNAP receptor function. Cell 83: 111–119.
43. HauckeV, NeherE, SigristSJ (2011) Protein scaffolds in the coupling of synaptic exocytosis and endocytosis. Nat Rev Neurosci 12: 127–138.
44. KimS, JhoEH (2010) The protein stability of Axin, a negative regulator of Wnt signaling, is regulated by Smad ubiquitination regulatory factor 2 (Smurf2). J Biol Chem 285: 36420–36426.
45. MakBC, KenersonHL, AicherLD, BarnesEA, YeungRS (2005) Aberrant beta-catenin signaling in tuberous sclerosis. Am J Pathol 167: 107–116.
46. ZhangY, NeoSY, HanJ, LinSC (2000) Dimerization choices control the ability of axin and dishevelled to activate c-Jun N-terminal kinase/stress-activated protein kinase. J Biol Chem 275: 25008–25014.
47. WhartonKAJr, ZimmermannG, RoussetR, ScottMP (2001) Vertebrate proteins related to Drosophila Naked Cuticle bind Dishevelled and antagonize Wnt signaling. Dev Biol 234: 93–106.
48. SchneiderI, SchneiderPN, DerrySW, LinS, BartonLJ, et al. (2010) Zebrafish Nkd1 promotes Dvl degradation and is required for left-right patterning. Dev Biol 348: 22–33.
49. WillnowTE, RohlmannA, HortonJ, OtaniH, BraunJR, et al. (1996) RAP, a specialized chaperone, prevents ligand-induced ER retention and degradation of LDL receptor-related endocytic receptors. EMBO J 15: 2632–2639.
50. ZhangY, SunY, WangF, WangZ, PengY, et al. (2012) Downregulating the Canonical Wnt/beta-catenin Signaling Pathway Attenuates the Susceptibility to Autism-like Phenotypes by Decreasing Oxidative Stress. Neurochem Res 37: 1409–1419.
51. OkerlundND, CheyetteBN (2011) Synaptic Wnt signaling-a contributor to major psychiatric disorders? J Neurodev Disord 3: 162–174.
52. MinesMA, YuskaitisCJ, KingMK, BeurelE, JopeRS (2010) GSK3 influences social preference and anxiety-related behaviors during social interaction in a mouse model of fragile X syndrome and autism. PLoS One 5: e9706.
53. FischbachGD, LordC (2010) The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron 68: 192–195.
54. MarshallCR, NoorA, VincentJB, LionelAC, FeukL, et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477–488.
55. SandersSJ, Ercan-SencicekAG, HusV, LuoR, MurthaMT, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70: 863–885.
56. HubbardTJ, AkenBL, AylingS, BallesterB, BealK, et al. (2009) Ensembl 2009. Nucleic Acids Res 37: D690–697.
57. EppigJT, BultCJ, KadinJA, RichardsonJE, BlakeJA, et al. (2005) The Mouse Genome Database (MGD): from genes to mice–a community resource for mouse biology. Nucleic Acids Res 33: D471–475.
58. EppigJT, BlakeJA, BultCJ, RichardsonJE, KadinJA, et al. (2007) Mouse genome informatics (MGI) resources for pathology and toxicology. Toxicol Pathol 35: 456–457.
59. BultCJ, EppigJT, KadinJA, RichardsonJE, BlakeJA (2008) The Mouse Genome Database (MGD): mouse biology and model systems. Nucleic Acids Res 36: D724–728.
60. RossinEJ, LageK, RaychaudhuriS, XavierRJ, TatarD, et al. (2011) Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genet 7: e1001273.
61. BenjaminiY, HochbergY (1995) Controlling the false discovery rate: a practical and powerful approach to multiple testing. Journal of the Royal Statistical Society, Series B (Methodological) 57: 289–300.
62. MuddashettyRS, NalavadiVC, GrossC, YaoX, XingL, et al. (2011) Reversible inhibition of PSD-95 mRNA translation by miR-125a, FMRP phosphorylation, and mGluR signaling. Mol Cell 42: 673–688.
63. ChenHJ, Rojas-SotoM, OguniA, KennedyMB (1998) A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II. Neuron 20: 895–904.
64. HartMJ, MaruY, LeonardD, WitteON, EvansT, et al. (1992) A GDP dissociation inhibitor that serves as a GTPase inhibitor for the Ras-like protein CDC42Hs. Science 258: 812–815.
65. RainesKW, CaoGL, LeeEK, RosenGM, ShapiroP (2006) Neuronal nitric oxide synthase-induced S-nitrosylation of H-Ras inhibits calcium ionophore-mediated extracellular-signal-regulated kinase activity. Biochem J 397: 329–336.
66. NikonenkoI, BodaB, SteenS, KnottG, WelkerE, et al. (2008) PSD-95 promotes synaptogenesis and multiinnervated spine formation through nitric oxide signaling. J Cell Biol 183: 1115–1127.
67. RuthP, WangGX, BoekhoffI, MayB, PfeiferA, et al. (1993) Transfected cGMP-dependent protein kinase suppresses calcium transients by inhibition of inositol 1,4,5-trisphosphate production. Proc Natl Acad Sci U S A 90: 2623–2627.