Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The familial risk of autism. Jama. 2014;311(17):1770–7.
CAS
PubMed
PubMed Central
Google Scholar
Cardno AG, Gottesman II. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am J Med Genet. 2000;97(1):12–7.
CAS
PubMed
Google Scholar
Ronald A, Happe F, Bolton P, Butcher LM, Price TS, Wheelwright S, et al. Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry. 2006;45(6):691–9.
PubMed
Google Scholar
Ronemus M, Iossifov I, Levy D, Wigler M. The role of de novo mutations in the genetics of autism spectrum disorders. Nat Rev Genet. 2014;15(2):133–41.
CAS
PubMed
Google Scholar
Geschwind DH, State MW. Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 2015;14(11):1109–20.
PubMed
PubMed Central
Google Scholar
Sahin M, Sur M. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015;350(6263). https://doi.org/10.1126/science.aab3897.
Lise MF, El-Husseini A. The neuroligin and neurexin families: from structure to function at the synapse. Cell Mol Life Sci. 2006;63(16):1833–49.
CAS
PubMed
Google Scholar
Sudhof TC. Synaptic neurexin complexes: a molecular code for the logic of neural circuits. Cell. 2017;171(4):745–69.
CAS
PubMed
PubMed Central
Google Scholar
Gauthier J, Siddiqui TJ, Huashan P, Yokomaku D, Hamdan FF, Champagne N, et al. Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Hum Genet. 2011;130(4):563–73.
CAS
PubMed
PubMed Central
Google Scholar
Mohrmann I, Gillessen-Kaesbach G, Siebert R, Caliebe A, Hellenbroich Y. A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1. Eur J Med Genet. 2011;54(4):e461–4.
PubMed
Google Scholar
Boyle MI, Jespersgaard C, Nazaryan L, Ravn K, Brondum-Nielsen K, Bisgaard AM, et al. Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome. Gene. 2015;572(1):130–4.
CAS
PubMed
Google Scholar
Li J, Wang L, Gou H, Shi L, Zhang K, Tang M, et al. Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders. Mol Psychiatry. 2017;22:1282–90.
CAS
PubMed
Google Scholar
Yuan H, Li X, Wang Q, Yang W, Song J, Hu X, et al. A de novo 921Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors. Eur J Med Genet. 2018;61(10):607–11.
Williams SM, An JY, Edson J, Watts M, Murigneux V, Whitehouse AJO, et al. An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder. Mol Psychiatry. 2018. https://doi.org/10.1038/s41380-018-0049-x.
Wang J, Gong J, Li L, Chen Y, Liu L, Gu H, et al. Neurexin gene family variants as risk factors for autism spectrum disorder. Autism Res. 2018;11(1):37–43.
PubMed
Google Scholar
Duda M, Zhang H, Li HD, Wall DP, Burmeister M, Guan Y. Brain-specific functional relationship networks inform autism spectrum disorder gene prediction. Transl Psychiatry. 2018;8(1):56.
PubMed
PubMed Central
Google Scholar
Dachtler J, Glasper J, Cohen RN, Ivorra JL, Swiffen DJ, Jackson AJ, et al. Deletion of alpha-neurexin II results in autism-related behaviors in mice. Transl Psychiatry. 2014;4:e484.
CAS
PubMed
PubMed Central
Google Scholar
Born G, Grayton HM, Langhorst H, Dudanova I, Rohlmann A, Woodward BW, et al. Genetic targeting of NRXN2 in mice unveils role in excitatory cortical synapse function and social behaviors. Front Synaptic Neurosci. 2015;7:3.
PubMed
PubMed Central
Google Scholar
Dachtler J, Ivorra JL, Rowland TE, Lever C, Rodgers RJ, Clapcote SJ. Heterozygous deletion of alpha-neurexin I or alpha-neurexin II results in behaviors relevant to autism and schizophrenia. Behav Neurosci. 2015;129(6):765–76.
CAS
PubMed
PubMed Central
Google Scholar
Dudanova I, Tabuchi K, Rohlmann A, Sudhof TC, Missler M. Deletion of alpha-neurexins does not cause a major impairment of axonal pathfinding or synapse formation. J Comp Neurol. 2007;502(2):261–74.
CAS
PubMed
Google Scholar
Beaulieu C. The basis of anisotropic water diffusion in the nervous system - a technical review. NMR Biomed. 2002;15(7–8):435–55.
PubMed
Google Scholar
Barnea-Goraly N, Kwon H, Menon V, Eliez S, Lotspeich L, Reiss AL. White matter structure in autism: preliminary evidence from diffusion tensor imaging. Biol Psychiatry. 2004;55(3):323–6.
PubMed
Google Scholar
Noriuchi M, Kikuchi Y, Yoshiura T, Kira R, Shigeto H, Hara T, et al. Altered white matter fractional anisotropy and social impairment in children with autism spectrum disorder. Brain Res. 2010;1362:141–9.
CAS
PubMed
Google Scholar
Belmonte MK, Allen G, Beckel-Mitchener A, Boulanger LM, Carper RA, Webb SJ. Autism and abnormal development of brain connectivity. J Neurosci. 2004;24(42):9228–31.
CAS
PubMed
Google Scholar
Chung K, Wallace J, Kim SY, Kalyanasundaram S, Andalman AS, Davidson TJ, et al. Structural and molecular interrogation of intact biological systems. Nature. 2013;497(7449):332–7.
CAS
PubMed
PubMed Central
Google Scholar
Pervolaraki E, Anderson RA, Benson AP, Hayes-Gill B, Holden AV, Moore BJ, et al. Antenatal architecture and activity of the human heart. Interface focus. 2013;3(2):20120065.
PubMed
PubMed Central
Google Scholar
Pervolaraki E, Dachtler J, Anderson RA, Holden AV. Ventricular myocardium development and the role of connexins in the human fetal heart. Sci Rep. 2017;7(1):12272.
PubMed
PubMed Central
Google Scholar
Yeh FC, Verstynen TD, Wang Y, Fernandez-Miranda JC, Tseng WY. Deterministic diffusion fiber tracking improved by quantitative anisotropy. PLoS One. 2013;8(11):e80713.
PubMed
PubMed Central
Google Scholar
Paxinos G, Franklin K. The mouse brain in stereotaxic coordinates. 3rd ed. London: Academic Press; 2008.
Basser PJ, Mattiello J, LeBihan D. Estimation of the effective self-diffusion tensor from the NMR spin echo. J Magn Reson Series B. 1994;103(3):247–54.
CAS
Google Scholar
Jiang H, van Zijl PC, Kim J, Pearlson GD, Mori S. DtiStudio: resource program for diffusion tensor computation and fiber bundle tracking. Comput Methods Prog Biomed. 2006;81(2):106–16.
Google Scholar
Ferguson JN, Aldag JM, Insel TR, Young LJ. Oxytocin in the medial amygdala is essential for social recognition in the mouse. J Neurosci. 2001;21(20):8278–85.
CAS
PubMed
Google Scholar
Tanimizu T, Kenney JW, Okano E, Kadoma K, Frankland PW, Kida S. Functional connectivity of multiple brain regions required for the consolidation of social recognition memory. J Neurosci. 2017;37(15):4103–16.
CAS
PubMed
Google Scholar
Emery NJ, Capitanio JP, Mason WA, Machado CJ, Mendoza SP, Amaral DG. The effects of bilateral lesions of the amygdala on dyadic social interactions in rhesus monkeys (Macaca mulatta). Behav Neurosci. 2001;115(3):515–44.
CAS
PubMed
Google Scholar
Rosvold HE, Mirsky AF, Pribram KH. Influence of amygdalectomy on social behavior in monkeys. J Comp Physiol Psychol. 1954;47(3):173–8.
CAS
PubMed
Google Scholar
Mosher CP, Zimmerman PE, Gothard KM. Neurons in the monkey amygdala detect eye contact during naturalistic social interactions. Curr Biol. 2014;24(20):2459–64.
CAS
PubMed
PubMed Central
Google Scholar
Rutishauser U, Mamelak AN, Adolphs R. The primate amygdala in social perception - insights from electrophysiological recordings and stimulation. Trends Neurosci. 2015;38(5):295–306.
CAS
PubMed
PubMed Central
Google Scholar
Rutishauser U, Tudusciuc O, Wang S, Mamelak AN, Ross IB, Adolphs R. Single-neuron correlates of atypical face processing in autism. Neuron. 2013;80(4):887–99.
CAS
PubMed
PubMed Central
Google Scholar
Adolphs R, Tranel D, Damasio AR. The human amygdala in social judgment. Nature. 1998;393(6684):470–4.
CAS
PubMed
Google Scholar
Baron-Cohen S, Ring HA, Bullmore ET, Wheelwright S, Ashwin C, Williams SC. The amygdala theory of autism. Neurosci Biobehav Rev. 2000;24(3):355–64.
CAS
PubMed
Google Scholar
Maaswinkel H, Baars AM, Gispen WH, Spruijt BM. Roles of the basolateral amygdala and hippocampus in social recognition in rats. Physiol Behav. 1996;60(1):55–63.
CAS
PubMed
Google Scholar
Kogan JH, Frankland PW, Silva AJ. Long-term memory underlying hippocampus-dependent social recognition in mice. Hippocampus. 2000;10(1):47–56.
CAS
PubMed
Google Scholar
Okuyama T, Kitamura T, Roy DS, Itohara S, Tonegawa S. Ventral CA1 neurons store social memory. Science. 2016;353(6307):1536–41.
CAS
PubMed
PubMed Central
Google Scholar
van der Kooij MA, Fantin M, Kraev I, Korshunova I, Grosse J, Zanoletti O, et al. Impaired hippocampal neuroligin-2 function by chronic stress or synthetic peptide treatment is linked to social deficits and increased aggression. Neuropsychopharmacology. 2014;39(5):1148–58.
PubMed
Google Scholar
Rubin RD, Watson PD, Duff MC, Cohen NJ. The role of the hippocampus in flexible cognition and social behavior. Front Hum Neurosci. 2014;8:742.
PubMed
PubMed Central
Google Scholar
Nicolson R, DeVito TJ, Vidal CN, Sui Y, Hayashi KM, Drost DJ, et al. Detection and mapping of hippocampal abnormalities in autism. Psychiatry Res. 2006;148(1):11–21.
PubMed
Google Scholar
Schumann CM, Hamstra J, Goodlin-Jones BL, Lotspeich LJ, Kwon H, Buonocore MH, et al. The amygdala is enlarged in children but not adolescents with autism; the hippocampus is enlarged at all ages. J Neurosci. 2004;24(28):6392–401.
CAS
PubMed
Google Scholar
Bachevalier J, Loveland KA. The orbitofrontal-amygdala circuit and self-regulation of social-emotional behavior in autism. Neurosci Biobehav Rev. 2006;30(1):97–117.
PubMed
Google Scholar
Beer JS, John OP, Scabini D, Knight RT. Orbitofrontal cortex and social behavior: integrating self-monitoring and emotion-cognition interactions. J Cogn Neurosci. 2006;18(6):871–9.
PubMed
Google Scholar
Watson KK, Platt ML. Social signals in primate orbitofrontal cortex. Curr Biol. 2012;22(23):2268–73.
CAS
PubMed
PubMed Central
Google Scholar
Girgis RR, Minshew NJ, Melhem NM, Nutche JJ, Keshavan MS, Hardan AY. Volumetric alterations of the orbitofrontal cortex in autism. Prog Neuro-Psychopharmacol Biol Psychiatry. 2007;31(1):41–5.
Google Scholar
Tyson AL, Hilton ST, Andreae LC. Rapid, simple and inexpensive production of custom 3D printed equipment for large-volume fluorescence microscopy. Int J Pharm. 2015;494(2):651–6.
CAS
PubMed
PubMed Central
Google Scholar
Herbert MR, Ziegler DA, Deutsch CK, O'Brien LM, Kennedy DN, Filipek PA, et al. Brain asymmetries in autism and developmental language disorder: a nested whole-brain analysis. Brain. 2005;128(Pt 1):213–26.
CAS
PubMed
Google Scholar
Alexander AL, Lee JE, Lazar M, Field AS. Diffusion tensor imaging of the brain. Neurotherapeutics. 2007;4(3):316–29.
PubMed
PubMed Central
Google Scholar
Alexander AL, Lee JE, Lazar M, Boudos R, DuBray MB, Oakes TR, et al. Diffusion tensor imaging of the corpus callosum in autism. NeuroImage. 2007;34(1):61–73.
PubMed
Google Scholar
Travers BG, do PM T, Adluru N, Lange N, Destiche D, Ennis C, et al. Atypical development of white matter microstructure of the corpus callosum in males with autism: a longitudinal investigation. Mol Autism. 2015;6:15.
PubMed
PubMed Central
Google Scholar
Ellegood J, Babineau BA, Henkelman RM, Lerch JP, Crawley JN. Neuroanatomical analysis of the BTBR mouse model of autism using magnetic resonance imaging and diffusion tensor imaging. NeuroImage. 2013;70:288–300.
PubMed
Google Scholar
Kumar M, Kim S, Pickup S, Chen R, Fairless AH, Ittyerah R, et al. Longitudinal in-vivo diffusion tensor imaging for assessing brain developmental changes in BALB/cJ mice, a model of reduced sociability relevant to autism. Brain Res. 2012;1455:56–67.
CAS
PubMed
PubMed Central
Google Scholar
Pitkanen A, Pikkarainen M, Nurminen N, Ylinen A. Reciprocal connections between the amygdala and the hippocampal formation, perirhinal cortex, and postrhinal cortex in rat. A review. Ann N Y Acad Sci. 2000;911:369–91.
CAS
PubMed
Google Scholar
Cavada C, Company T, Tejedor J, Cruz-Rizzolo RJ, Reinoso-Suarez F. The anatomical connections of the macaque monkey orbitofrontal cortex. A review. Cereb Cortex. 2000;10(3):220–42.
CAS
PubMed
Google Scholar
Abrams DA, Lynch CJ, Cheng KM, Phillips J, Supekar K, Ryali S, et al. Underconnectivity between voice-selective cortex and reward circuitry in children with autism. Proc Natl Acad Sci U S A. 2013;110(29):12060–5.
CAS
PubMed
PubMed Central
Google Scholar
Murphy ER, Foss-Feig J, Kenworthy L, Gaillard WD, Vaidya CJ. Atypical functional connectivity of the amygdala in childhood autism spectrum disorders during spontaneous attention to eye-gaze. Autism Res Treat. 2012;2012:652408.
PubMed
PubMed Central
Google Scholar
Sundaram SK, Kumar A, Makki MI, Behen ME, Chugani HT, Chugani DC. Diffusion tensor imaging of frontal lobe in autism spectrum disorder. Cereb Cortex. 2008;18(11):2659–65.
PubMed
PubMed Central
Google Scholar
Travers BG, Adluru N, Ennis C, do PM T, Destiche D, Doran S, et al. Diffusion tensor imaging in autism spectrum disorder: a review. Autism Res. 2012;5(5):289–313.
PubMed
PubMed Central
Google Scholar
Ameis SH, Fan J, Rockel C, Voineskos AN, Lobaugh NJ, Soorya L, et al. Impaired structural connectivity of socio-emotional circuits in autism spectrum disorders: a diffusion tensor imaging study. PLoS One. 2011;6(11):e28044.
CAS
PubMed
PubMed Central
Google Scholar
Shukla DK, Keehn B, Muller RA. Tract-specific analyses of diffusion tensor imaging show widespread white matter compromise in autism spectrum disorder. J Child Psychol Psychiatry. 2011;52(3):286–95.
PubMed
Google Scholar
Jou RJ, Jackowski AP, Papademetris X, Rajeevan N, Staib LH, Volkmar FR. Diffusion tensor imaging in autism spectrum disorders: preliminary evidence of abnormal neural connectivity. Aust N Z J Psychiatry. 2011;45(2):153–62.
PubMed
Google Scholar
Conturo TE, Williams DL, Smith CD, Gultepe E, Akbudak E, Minshew NJ. Neuronal fiber pathway abnormalities in autism: an initial MRI diffusion tensor tracking study of hippocampo-fusiform and amygdalo-fusiform pathways. J Int Neuropsychol Soc. 2008;14(6):933–46.
PubMed
PubMed Central
Google Scholar
Stanfield AC, McIntosh AM, Spencer MD, Philip R, Gaur S, Lawrie SM. Towards a neuroanatomy of autism: a systematic review and meta-analysis of structural magnetic resonance imaging studies. Eur Psychiatry. 2008;23(4):289–99.
PubMed
Google Scholar
Vissers ME, Cohen MX, Geurts HM. Brain connectivity and high functioning autism: a promising path of research that needs refined models, methodological convergence, and stronger behavioral links. Neurosci Biobehav Rev. 2012;36(1):604–25.
PubMed
Google Scholar
Rudie JD, Brown JA, Beck-Pancer D, Hernandez LM, Dennis EL, Thompson PM, et al. Altered functional and structural brain network organization in autism. NeuroImage Clin. 2012;2:79–94.
CAS
PubMed
PubMed Central
Google Scholar
Uddin LQ, Supekar K, Menon V. Reconceptualizing functional brain connectivity in autism from a developmental perspective. Front Hum Neurosci. 2013;7:458.
PubMed
PubMed Central
Google Scholar
Zhan Y, Paolicelli RC, Sforazzini F, Weinhard L, Bolasco G, Pagani F, et al. Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior. Nat Neurosci. 2014;17(3):400–6.
CAS
PubMed
Google Scholar
Missler M, Zhang W, Rohlmann A, Kattenstroth G, Hammer RE, Gottmann K, et al. Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis. Nature. 2003;423(6943):939–48.
CAS
PubMed
Google Scholar
Alba-Ferrara LM, de Erausquin GA. What does anisotropy measure? Insights from increased and decreased anisotropy in selective fiber tracts in schizophrenia. Front Integr Neurosci. 2013;7:9.
CAS
PubMed
PubMed Central
Google Scholar
Minshew NJ, Williams DL. The new neurobiology of autism: cortex, connectivity, and neuronal organization. Arch Neurol. 2007;64(7):945–50.
PubMed
PubMed Central
Google Scholar
Andreae LC, Burrone J. Spontaneous neurotransmitter release shapes dendritic arbors via long-range activation of NMDA receptors. Cell Rep. 2015;10(6):873–82.
Ye L, Allen WE, Thompson KR, Tian Q, Hsueh B, Ramakrishnan C, et al. Wiring and molecular features of prefrontal ensembles representing distinct experiences. Cell. 2016;165(7):1776–88.
CAS
PubMed
PubMed Central
Google Scholar
Jones DK. The effect of gradient sampling schemes on measures derived from diffusion tensor MRI: a Monte Carlo study. Magn Reson Med. 2004;51(4):807–15.
PubMed
Google Scholar