{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T21:39:11Z","timestamp":1792532351966,"version":"4.5.0"},"reference-count":274,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:00:00Z","timestamp":1792454400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:00:00Z","timestamp":1792454400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Faculty Postdoctoral Fellowship Training Program","award":["129-3110230612"],"award-info":[{"award-number":["129-3110230612"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Biomed"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition characterized by persistent deficits in social communication and restricted, repetitive behaviors. Global prevalence has risen steadily, yet reported rates vary markedly across regions and populations. These discrepancies reflect inequities in diagnostic access and screening capacity rather than true differences in incidence. This review integrates recent advances across the full ASD research spectrum. We first examine global epidemiological patterns and demographic disparities. We then dissect the genetic architecture of ASD, including rare and common variants, copy number variations, and gene\u2013environment interactions that disrupt prenatal and early postnatal brain development. At the molecular level, diverse risk factors converge on shared neurodevelopmental mechanisms. These include synaptic dysfunction, dysregulated signaling through mTOR, Ras-ERK-MAPK, Wnt and Notch pathways, impaired neurogenesis, chronic neuroimmune inflammation, and excitatory\u2013inhibitory imbalance. We also discuss how these mechanisms manifest in core clinical features, including social deficits, repetitive behaviors, and sensory abnormalities. We summarize current diagnostic standards and their limitations. Cross-species animal models, from\n                    <jats:italic>Drosophila<\/jats:italic>\n                    to non-human primates, are evaluated for their essential roles in mechanistic validation and therapeutic screening. Finally, we assess clinical management strategies, ranging from behavioral and educational interventions to pharmacological and supportive services. By tracing a continuous path from risk factors at the population level through molecular pathophysiology to interventions guided by mechanism, this review offers an integrative synthesis that connects basic discovery to clinical translation. We further discuss how multi-omics and artificial intelligence may advance precise diagnosis rooted in mechanism and personalized treatment.\n                  <\/jats:p>","DOI":"10.1186\/s43556-026-00613-2","type":"journal-article","created":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T08:10:52Z","timestamp":1792483852000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Autism: epidemiology, genetics, molecular mechanisms, clinical features, diagnosis, and management"],"prefix":"10.1186","volume":"7","author":[{"given":"Ruonan","family":"Fan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yilin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9456-5279","authenticated-orcid":false,"given":"Tingting","family":"Miao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,20]]},"reference":[{"issue":"4","key":"613_CR1","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1016\/S1474-4422(24)00038-3","volume":"23","author":"Collaborators GBDNSD","year":"2024","unstructured":"Collaborators GBDNSD. Global, regional, and national burden of disorders affecting the nervous system, 1990\u20132021: a systematic analysis for the Global Burden of Disease Study 2021. Lancet Neurol. 2024;23(4):344\u201381. https:\/\/doi.org\/10.1016\/S1474-4422(24)00038-3.","journal-title":"Lancet Neurol"},{"issue":"9","key":"613_CR2","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1007\/s12264-020-00530-6","volume":"36","author":"H Zhou","year":"2020","unstructured":"Zhou H, Xu X, Yan W, Zou X, Wu L, Luo X, et al. Prevalence of autism spectrum disorder in China: a nationwide multi-center population-based study among children aged 6 to 12 years. Neurosci Bull. 2020;36(9):961\u201371. https:\/\/doi.org\/10.1007\/s12264-020-00530-6.","journal-title":"Neurosci Bull"},{"issue":"5","key":"613_CR3","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1111\/jcpp.12499","volume":"57","author":"B Tick","year":"2016","unstructured":"Tick B, Bolton P, Happe F, Rutter M, Rijsdijk F. Heritability of autism spectrum disorders: a meta-analysis of twin studies. J Child Psychol Psychiatry. 2016;57(5):585\u201395. https:\/\/doi.org\/10.1111\/jcpp.12499.","journal-title":"J Child Psychol Psychiatry"},{"issue":"9920","key":"613_CR4","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1016\/S0140-6736(13)61539-1","volume":"383","author":"MC Lai","year":"2014","unstructured":"Lai MC, Lombardo MV, Baron-Cohen S. Autism. Lancet. 2014;383(9920):896\u2013910. https:\/\/doi.org\/10.1016\/S0140-6736(13)61539-1.","journal-title":"Lancet"},{"key":"613_CR5","doi-asserted-by":"publisher","unstructured":"Masini E, Loi E, Vega-Benedetti AF, Carta M, Doneddu G, Fadda R, et al. An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity. Int J Mol Sci. 2020;21(21). https:\/\/doi.org\/10.3390\/ijms21218290.","DOI":"10.3390\/ijms21218290"},{"issue":"3","key":"613_CR6","doi-asserted-by":"publisher","first-page":"281","DOI":"10.31887\/DCNS.2012.14.3\/pchaste","volume":"14","author":"P Chaste","year":"2012","unstructured":"Chaste P, Leboyer M. Autism risk factors: genes, environment, and gene-environment interactions. Dialogues Clin Neurosci. 2012;14(3):281\u201392. https:\/\/doi.org\/10.31887\/DCNS.2012.14.3\/pchaste.","journal-title":"Dialogues Clin Neurosci"},{"key":"613_CR7","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1016\/j.bbi.2025.07.003","volume":"129","author":"R Giniatullin","year":"2025","unstructured":"Giniatullin R, Cherubini E. Gabaergic signalling in Autism Spectrum disorders (ASD): Role of glial cells and therapeutic perspectives. Brain Behav Immun. 2025;129:681\u20139. https:\/\/doi.org\/10.1016\/j.bbi.2025.07.003.","journal-title":"Brain Behav Immun"},{"issue":"5","key":"613_CR8","doi-asserted-by":"publisher","first-page":"1937","DOI":"10.1038\/s41380-024-02805-0","volume":"30","author":"ML Hilal","year":"2025","unstructured":"Hilal ML, Rosina E, Pedini G, Restivo L, Bagni C. Dysregulation of the mTOR-FMRP pathway and synaptic plasticity in an environmental model of ASD. Mol Psychiatry. 2025;30(5):1937\u201351. https:\/\/doi.org\/10.1038\/s41380-024-02805-0.","journal-title":"Mol Psychiatry"},{"issue":"4","key":"613_CR9","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1016\/j.jaclp.2025.05.001","volume":"66","author":"JE Wilson","year":"2025","unstructured":"Wilson JE, Oldham MA, Francis A, Perkey D, Kramer E, Jiang S, et al. Catatonia: American Psychiatric Association Resource Document. J Acad Consult Liaison Psychiatry. 2025;66(4):277\u201399. https:\/\/doi.org\/10.1016\/j.jaclp.2025.05.001.","journal-title":"J Acad Consult Liaison Psychiatry"},{"key":"613_CR10","doi-asserted-by":"publisher","unstructured":"Hanno Y, Nakanishi M, Takase A, Nomura J, Tanaka M, Iida Y, et al. Targeting notch signaling to restore neural development and behavior in mouse models of ASD. Nat Commun. 2026;17(1). https:\/\/doi.org\/10.1038\/s41467-026-70321-6.","DOI":"10.1038\/s41467-026-70321-6"},{"issue":"6","key":"613_CR11","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1038\/s41583-022-00576-7","volume":"23","author":"HR Willsey","year":"2022","unstructured":"Willsey HR, Willsey AJ, Wang B, State MW. Genomics, convergent neuroscience and progress in understanding autism spectrum disorder. Nat Rev Neurosci. 2022;23(6):323\u201341. https:\/\/doi.org\/10.1038\/s41583-022-00576-7.","journal-title":"Nat Rev Neurosci"},{"issue":"4","key":"613_CR12","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1007\/s00401-017-1736-4","volume":"134","author":"M Varghese","year":"2017","unstructured":"Varghese M, Keshav N, Jacot-Descombes S, Warda T, Wicinski B, Dickstein DL, et al. Autism spectrum disorder: neuropathology and animal models. Acta Neuropathol. 2017;134(4):537\u201366. https:\/\/doi.org\/10.1007\/s00401-017-1736-4.","journal-title":"Acta Neuropathol"},{"issue":"10","key":"613_CR13","doi-asserted-by":"publisher","first-page":"1161","DOI":"10.1038\/nn.2647","volume":"13","author":"EJ Nestler","year":"2010","unstructured":"Nestler EJ, Hyman SE. Animal models of neuropsychiatric disorders. Nat Neurosci. 2010;13(10):1161\u20139. https:\/\/doi.org\/10.1038\/nn.2647.","journal-title":"Nat Neurosci"},{"issue":"1","key":"613_CR14","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.biopsych.2020.03.022","volume":"88","author":"SJ Hong","year":"2020","unstructured":"Hong SJ, Vogelstein JT, Gozzi A, Bernhardt BC, Yeo BTT, Milham MP, et al. Toward neurosubtypes in autism. Biol Psychiatry. 2020;88(1):111\u201328. https:\/\/doi.org\/10.1016\/j.biopsych.2020.03.022.","journal-title":"Biol Psychiatry"},{"issue":"2","key":"613_CR15","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/S2215-0366(24)00363-8","volume":"12","author":"Global Burden of Disease Study Autism Spectrum C","year":"2025","unstructured":"Global Burden of Disease Study Autism Spectrum C. The global epidemiology and health burden of the autism spectrum: findings from the Global Burden of Disease Study 2021. Lancet Psychiatry. 2025;12(2):111\u201321. https:\/\/doi.org\/10.1016\/S2215-0366(24)00363-8.","journal-title":"Lancet Psychiatry"},{"issue":"10","key":"613_CR16","doi-asserted-by":"publisher","first-page":"4172","DOI":"10.1038\/s41380-022-01630-7","volume":"27","author":"M Solmi","year":"2022","unstructured":"Solmi M, Song M, Yon DK, Lee SW, Fombonne E, Kim MS, et al. Incidence, prevalence, and global burden of autism spectrum disorder from 1990 to 2019 across 204 countries. Mol Psychiatry. 2022;27(10):4172\u201380. https:\/\/doi.org\/10.1038\/s41380-022-01630-7.","journal-title":"Mol Psychiatry"},{"issue":"7","key":"613_CR17","doi-asserted-by":"publisher","DOI":"10.1002\/alz.70444","volume":"21","author":"DK Behera","year":"2025","unstructured":"Behera DK, Rahut DB, Tripathy S. Alzheimer\u2019s disease and dementia in Japan: epidemiological trends, regional disparities, and future projections. Alzheimers Dement. 2025;21(7):e70444. https:\/\/doi.org\/10.1002\/alz.70444.","journal-title":"Alzheimers Dement"},{"issue":"11","key":"613_CR18","doi-asserted-by":"publisher","first-page":"7871","DOI":"10.1002\/alz.14254","volume":"20","author":"K Yang","year":"2024","unstructured":"Yang K, Yang X, Yin P, Zhou M, Tang Y. Temporal trend and attributable risk factors of Alzheimer\u2019s disease and other dementias burden in China: findings from the Global Burden of Disease Study 2021. Alzheimers Dement. 2024;20(11):7871\u201384. https:\/\/doi.org\/10.1002\/alz.14254.","journal-title":"Alzheimers Dement"},{"key":"613_CR19","doi-asserted-by":"publisher","DOI":"10.1016\/j.psychres.2019.112679","volume":"284","author":"S Qiu","year":"2020","unstructured":"Qiu S, Lu Y, Li Y, Shi J, Cui H, Gu Y, et al. Prevalence of autism spectrum disorder in Asia: a systematic review and meta-analysis. Psychiatry Res. 2020;284:112679. https:\/\/doi.org\/10.1016\/j.psychres.2019.112679.","journal-title":"Psychiatry Res"},{"issue":"2","key":"613_CR20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.15585\/mmwr.ss7402a1","volume":"74","author":"KA Shaw","year":"2022","unstructured":"Shaw KA, Williams S, Patrick ME, Valencia-Prado M, Durkin MS, Howerton EM, et al. Prevalence and early identification of autism spectrum disorder among children aged 4 and 8 years - Autism and Developmental Disabilities Monitoring Network, 16 sites, United States, 2022. MMWR Surveill Summ. 2022;74(2):1\u201322. https:\/\/doi.org\/10.15585\/mmwr.ss7402a1.","journal-title":"MMWR Surveill Summ"},{"key":"613_CR21","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.annepidem.2025.02.014","volume":"104","author":"ME Patrick","year":"2025","unstructured":"Patrick ME, Williams AR, Shaw KA, Durkin M, Hall-Lande J, Vehorn A, et al. Social vulnerability and the prevalence of autism spectrum disorder among 8-year-old children, Autism and Developmental Disabilities Monitoring Network, 2020. Ann Epidemiol. 2025;104:8\u201314. https:\/\/doi.org\/10.1016\/j.annepidem.2025.02.014.","journal-title":"Ann Epidemiol"},{"issue":"5","key":"613_CR22","doi-asserted-by":"publisher","first-page":"1378","DOI":"10.1177\/13623613261428537","volume":"30","author":"J Santos","year":"2026","unstructured":"Santos J, Santos LSD, Goncalves CL. Brazil\u2019s first national census estimate of autism prevalence: implications for surveillance and policy in the Global South. Autism. 2026;30(5):1378\u20139. https:\/\/doi.org\/10.1177\/13623613261428537.","journal-title":"Autism"},{"issue":"1","key":"613_CR23","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-022-01310-w","volume":"48","author":"N Salari","year":"2022","unstructured":"Salari N, Rasoulpoor S, Rasoulpoor S, Shohaimi S, Jafarpour S, Abdoli N, et al. The global prevalence of autism spectrum disorder: a comprehensive systematic review and meta-analysis. Ital J Pediatr. 2022;48(1):112. https:\/\/doi.org\/10.1186\/s13052-022-01310-w.","journal-title":"Ital J Pediatr"},{"key":"613_CR24","doi-asserted-by":"publisher","unstructured":"Jensen de Lopez KM, Thirup Moller H. Prevalence of Autism in Scandinavian Countries (Denmark, Norway, Sweden), and Nordic Countries (Finland, Iceland, the Faroe Islands, and Greenland). Neuropsychiatr Dis Treat. 2024;20:1597\u2013612. https:\/\/doi.org\/10.2147\/NDT.S466081.","DOI":"10.2147\/NDT.S466081"},{"key":"613_CR25","doi-asserted-by":"publisher","unstructured":"Ferreira IL, Mazalo JV, Prates-Baldez D, Kapczinski F, Quarantini LC. Prevalence of autism in African countries: a systematic review and meta-analysis. Trends Psychiatry Psychother. 2026. https:\/\/doi.org\/10.47626\/2237-6089-2025-1251.","DOI":"10.47626\/2237-6089-2025-1251"},{"issue":"1","key":"613_CR26","doi-asserted-by":"publisher","first-page":"3","DOI":"10.24171\/j.phrp.2024.0286","volume":"16","author":"A Issac","year":"2025","unstructured":"Issac A, Halemani K, Shetty A, Thimmappa L, Vijay VR, Koni K, et al. The global prevalence of autism spectrum disorder in children: a systematic review and meta-analysis. Osong Public Health Res Perspect. 2025;16(1):3\u201327. https:\/\/doi.org\/10.24171\/j.phrp.2024.0286.","journal-title":"Osong Public Health Res Perspect"},{"key":"613_CR27","doi-asserted-by":"publisher","unstructured":"Baio J, Wiggins L, Christensen DL, Maenner MJ, Daniels J, Warren Z, et al. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014. MMWR Surveill Summ. 2018;67(6):1\u201323. https:\/\/doi.org\/10.15585\/mmwr.ss6706a1.","DOI":"10.15585\/mmwr.ss6706a1"},{"key":"613_CR28","doi-asserted-by":"publisher","DOI":"10.1016\/j.nicl.2021.102719","volume":"31","author":"MJM Walsh","year":"2021","unstructured":"Walsh MJM, Wallace GL, Gallegos SM, Braden BB. Brain-based sex differences in autism spectrum disorder across the lifespan: a systematic review of structural MRI, fMRI, and DTI findings. Neuroimage Clin. 2021;31:102719. https:\/\/doi.org\/10.1016\/j.nicl.2021.102719.","journal-title":"Neuroimage Clin"},{"issue":"6","key":"613_CR29","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.jaac.2017.03.013","volume":"56","author":"R Loomes","year":"2017","unstructured":"Loomes R, Hull L, Mandy WPL. What is the male-to-female ratio in autism spectrum disorder? A systematic review and meta-analysis. J Am Acad Child Adolesc Psychiatry. 2017;56(6):466\u201374. https:\/\/doi.org\/10.1016\/j.jaac.2017.03.013.","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"613_CR30","doi-asserted-by":"publisher","first-page":"1681565","DOI":"10.3389\/fpubh.2025.1681565","volume":"13","author":"D Lin","year":"2025","unstructured":"Lin D, Shi Z, Hao Z, Xie X, Fang J, Li M, et al. Global burden, inequality, and frontier gaps of autism spectrum disorder disability in adolescents and young adults, 1990\u20132021: a systematic analysis of the GBD 2021 study. Front Public Health. 2025;13:1681565. https:\/\/doi.org\/10.3389\/fpubh.2025.1681565.","journal-title":"Front Public Health"},{"issue":"4","key":"613_CR31","doi-asserted-by":"publisher","first-page":"1519","DOI":"10.1038\/s41591-026-04228-6","volume":"32","author":"M Natividad Avila","year":"2026","unstructured":"Natividad Avila M, Jung S, Satterstrom FK, Fu JM, Levy T, Sloofman LG, et al. Deleterious coding variation associated with autism is shared across ancestries. Nat Med. 2026;32(4):1519\u201329. https:\/\/doi.org\/10.1038\/s41591-026-04228-6.","journal-title":"Nat Med"},{"issue":"11","key":"613_CR32","doi-asserted-by":"publisher","first-page":"1357","DOI":"10.1176\/appi.ajp.2010.10020223","volume":"167","author":"P Lichtenstein","year":"2010","unstructured":"Lichtenstein P, Carlstrom E, Rastam M, Gillberg C, Anckarsater H. The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am J Psychiatry. 2010;167(11):1357\u201363. https:\/\/doi.org\/10.1176\/appi.ajp.2010.10020223.","journal-title":"Am J Psychiatry"},{"issue":"2","key":"613_CR33","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1038\/nrg3585","volume":"15","author":"M Ronemus","year":"2014","unstructured":"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\u201341. https:\/\/doi.org\/10.1038\/nrg3585.","journal-title":"Nat Rev Genet"},{"issue":"1","key":"613_CR34","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-38663-y","volume":"9","author":"KA Hope","year":"2019","unstructured":"Hope KA, McGinn A, Reiter LT. A genome-wide enhancer\/suppressor screen for Dube3a interacting genes in Drosophila melanogaster. Sci Rep. 2019;9(1):2382. https:\/\/doi.org\/10.1038\/s41598-019-38663-y.","journal-title":"Sci Rep"},{"key":"613_CR35","doi-asserted-by":"publisher","unstructured":"Mota-Rojas D, Villanueva-Garcia D, Solimano A, Muns R, Ibarra-Rios D, Mota-Reyes A. Pathophysiology of perinatal asphyxia in humans and animal models. Biomedicines. 2022;10(2). https:\/\/doi.org\/10.3390\/biomedicines10020347.","DOI":"10.3390\/biomedicines10020347"},{"issue":"16","key":"613_CR36","doi-asserted-by":"publisher","first-page":"1696","DOI":"10.1001\/jama.2013.2270","volume":"309","author":"J Christensen","year":"2013","unstructured":"Christensen J, Gronborg TK, Sorensen MJ, Schendel D, Parner ET, Pedersen LH, et al. Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA. 2013;309(16):1696\u2013703. https:\/\/doi.org\/10.1001\/jama.2013.2270.","journal-title":"JAMA"},{"issue":"2\u20133","key":"613_CR37","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.ijdevneu.2004.05.001","volume":"23","author":"L Zwaigenbaum","year":"2005","unstructured":"Zwaigenbaum L, Bryson S, Rogers T, Roberts W, Brian J, Szatmari P. Behavioral manifestations of autism in the first year of life. Int J Dev Neurosci. 2005;23(2\u20133):143\u201352. https:\/\/doi.org\/10.1016\/j.ijdevneu.2004.05.001.","journal-title":"Int J Dev Neurosci"},{"issue":"8","key":"613_CR38","doi-asserted-by":"publisher","first-page":"921","DOI":"10.1097\/CHI.0b013e318179964f","volume":"47","author":"E Simonoff","year":"2008","unstructured":"Simonoff E, Pickles A, Charman T, Chandler S, Loucas T, Baird G. Psychiatric disorders in children with autism spectrum disorders: prevalence, comorbidity, and associated factors in a population-derived sample. J Am Acad Child Adolesc Psychiatry. 2008;47(8):921\u20139. https:\/\/doi.org\/10.1097\/CHI.0b013e318179964f.","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"issue":"Suppl 6","key":"613_CR39","doi-asserted-by":"publisher","DOI":"10.1186\/s12911-021-01534-6","volume":"21","author":"JE Harrison","year":"2021","unstructured":"Harrison JE, Weber S, Jakob R, Chute CG. ICD-11: an international classification of diseases for the twenty-first century. BMC Med Inform Decis Mak. 2021;21(Suppl 6):206. https:\/\/doi.org\/10.1186\/s12911-021-01534-6.","journal-title":"BMC Med Inform Decis Mak"},{"key":"613_CR40","unstructured":"Sharma NP, Huecker MR. Agitation. StatPearls. Treasure Island (FL). 2026."},{"issue":"5","key":"613_CR41","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1016\/j.encep.2019.07.002","volume":"45","author":"A Frigaux","year":"2019","unstructured":"Frigaux A, Evrard R, Lighezzolo-Alnot J. ADI-R and ADOS and the differential diagnosis of autism spectrum disorders: Interests, limits and openings. Encephale. 2019;45(5):441\u20138. https:\/\/doi.org\/10.1016\/j.encep.2019.07.002.","journal-title":"Encephale"},{"issue":"9","key":"613_CR42","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1001\/jama.2023.14530","volume":"330","author":"CL Raison","year":"2023","unstructured":"Raison CL, Sanacora G, Woolley J, Heinzerling K, Dunlop BW, Brown RT, et al. Single-dose psilocybin treatment for major depressive disorder: a randomized clinical trial. JAMA. 2023;330(9):843\u201353. https:\/\/doi.org\/10.1001\/jama.2023.14530.","journal-title":"JAMA"},{"issue":"2","key":"613_CR43","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1007\/s10803-013-1882-z","volume":"44","author":"AS Weitlauf","year":"2014","unstructured":"Weitlauf AS, Gotham KO, Vehorn AC, Warren ZE. Brief report: DSM-5 \u201clevels of support:\u201d a comment on discrepant conceptualizations of severity in ASD. J Autism Dev Disord. 2014;44(2):471\u20136. https:\/\/doi.org\/10.1007\/s10803-013-1882-z.","journal-title":"J Autism Dev Disord"},{"issue":"1","key":"613_CR44","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1186\/s40001-024-01916-2","volume":"29","author":"L Qin","year":"2024","unstructured":"Qin L, Wang H, Ning W, Cui M, Wang Q. New advances in the diagnosis and treatment of autism spectrum disorders. Eur J Med Res. 2024;29(1):322. https:\/\/doi.org\/10.1186\/s40001-024-01916-2.","journal-title":"Eur J Med Res"},{"key":"613_CR45","unstructured":"Hodis B, Mughal S, Saadabadi A. Autism Spectrum Disorder. StatPearls. Treasure Island (FL). 2026."},{"key":"613_CR46","doi-asserted-by":"publisher","unstructured":"Greaves-Lord K, Skuse D, Mandy W. Innovations of the ICD-11 in the Field of Autism Spectrum Disorder: A Psychological Approach. Clin Psychol Eur. 2022;4(Spec Issue):e10005. https:\/\/doi.org\/10.32872\/cpe.10005.","DOI":"10.32872\/cpe.10005"},{"issue":"3","key":"613_CR47","doi-asserted-by":"publisher","first-page":"633","DOI":"10.1038\/s41380-023-02354-y","volume":"29","author":"I Kamp-Becker","year":"2024","unstructured":"Kamp-Becker I. Autism spectrum disorder in ICD-11-a critical reflection of its possible impact on clinical practice and research. Mol Psychiatry. 2024;29(3):633\u20138. https:\/\/doi.org\/10.1038\/s41380-023-02354-y.","journal-title":"Mol Psychiatry"},{"issue":"4","key":"613_CR48","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/S0272-2712(18)30651-6","volume":"8","author":"MS Lifshitz","year":"1988","unstructured":"Lifshitz MS, De Cresce RP. New technologies in chemistry instrumentation: the basis for clinical chemistry automation. Clin Lab Med. 1988;8(4):623\u201332.","journal-title":"Clin Lab Med"},{"issue":"1","key":"613_CR49","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1002\/wps.20825","volume":"20","author":"MB First","year":"2021","unstructured":"First MB, Gaebel W, Maj M, Stein DJ, Kogan CS, Saunders JB, et al. An organization- and category-level comparison of diagnostic requirements for mental disorders in ICD-11 and DSM-5. World Psychiatry. 2021;20(1):34\u201351. https:\/\/doi.org\/10.1002\/wps.20825.","journal-title":"World Psychiatry"},{"key":"613_CR50","doi-asserted-by":"publisher","unstructured":"Hyman SL, Levy SE, Myers SM, Council On Children With Disabilities SOD, Behavioral P. Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics. 2020;145(1). https:\/\/doi.org\/10.1542\/peds.2019-3447.","DOI":"10.1542\/peds.2019-3447"},{"key":"613_CR51","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1016\/j.neubiorev.2019.07.010","volume":"104","author":"T Wolfers","year":"2019","unstructured":"Wolfers T, Floris DL, Dinga R, van Rooij D, Isakoglou C, Kia SM, et al. From pattern classification to stratification: towards conceptualizing the heterogeneity of Autism Spectrum Disorder. Neurosci Biobehav Rev. 2019;104:240\u201354. https:\/\/doi.org\/10.1016\/j.neubiorev.2019.07.010.","journal-title":"Neurosci Biobehav Rev"},{"key":"613_CR52","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2025.107219","volume":"218","author":"TY Choi","year":"2026","unstructured":"Choi TY, Gunawan A, Seo D, Park J, Ahn EH, Suh SW, et al. Applying biologically anchored subtypes to advance precision medicine in autism spectrum disorder. Neurobiol Dis. 2026;218:107219. https:\/\/doi.org\/10.1016\/j.nbd.2025.107219.","journal-title":"Neurobiol Dis"},{"issue":"2","key":"613_CR53","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/s00406-020-01189-w","volume":"272","author":"L Fusar-Poli","year":"2022","unstructured":"Fusar-Poli L, Brondino N, Politi P, Aguglia E. Missed diagnoses and misdiagnoses of adults with autism spectrum disorder. Eur Arch Psychiatry Clin Neurosci. 2022;272(2):187\u201398. https:\/\/doi.org\/10.1007\/s00406-020-01189-w.","journal-title":"Eur Arch Psychiatry Clin Neurosci"},{"issue":"3","key":"613_CR54","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","volume":"180","author":"FK Satterstrom","year":"2020","unstructured":"Satterstrom FK, Kosmicki JA, Wang J, Breen MS, De Rubeis S, An JY, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 2020;180(3):568-84 e23. https:\/\/doi.org\/10.1016\/j.cell.2019.12.036.","journal-title":"Cell"},{"issue":"1","key":"613_CR55","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1017\/s0033291700028099","volume":"25","author":"A Bailey","year":"1995","unstructured":"Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 1995;25(1):63\u201377. https:\/\/doi.org\/10.1017\/s0033291700028099.","journal-title":"Psychol Med"},{"issue":"5","key":"613_CR56","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1001\/jamapsychiatry.2014.3028","volume":"72","author":"E Colvert","year":"2015","unstructured":"Colvert E, Tick B, McEwen F, Stewart C, Curran SR, Woodhouse E, et al. Heritability of autism spectrum disorder in a UK population-based twin sample. JAMA Psychiat. 2015;72(5):415\u201323. https:\/\/doi.org\/10.1001\/jamapsychiatry.2014.3028.","journal-title":"JAMA Psychiat"},{"issue":"12","key":"613_CR57","doi-asserted-by":"publisher","first-page":"1182","DOI":"10.1001\/jama.2017.12141","volume":"318","author":"S Sandin","year":"2017","unstructured":"Sandin S, Lichtenstein P, Kuja-Halkola R, Hultman C, Larsson H, Reichenberg A. The Heritability of Autism Spectrum Disorder. JAMA. 2017;318(12):1182\u20134. https:\/\/doi.org\/10.1001\/jama.2017.12141.","journal-title":"JAMA"},{"issue":"17","key":"613_CR58","doi-asserted-by":"publisher","first-page":"1770","DOI":"10.1001\/jama.2014.4144","volume":"311","author":"S Sandin","year":"2014","unstructured":"Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A. The familial risk of autism. JAMA. 2014;311(17):1770\u20137. https:\/\/doi.org\/10.1001\/jama.2014.4144.","journal-title":"JAMA"},{"issue":"7","key":"613_CR59","doi-asserted-by":"publisher","first-page":"1092","DOI":"10.1038\/s41588-019-0433-8","volume":"51","author":"RN Doan","year":"2019","unstructured":"Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, et al. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019;51(7):1092\u20138. https:\/\/doi.org\/10.1038\/s41588-019-0433-8.","journal-title":"Nat Genet"},{"issue":"12","key":"613_CR60","doi-asserted-by":"publisher","first-page":"2242","DOI":"10.1002\/aur.2417","volume":"13","author":"S Xie","year":"2020","unstructured":"Xie S, Karlsson H, Dalman C, Widman L, Rai D, Gardner RM, et al. The Familial Risk of Autism Spectrum Disorder with and without Intellectual Disability. Autism Res. 2020;13(12):2242\u201350. https:\/\/doi.org\/10.1002\/aur.2417.","journal-title":"Autism Res"},{"issue":"7","key":"613_CR61","doi-asserted-by":"publisher","first-page":"1469","DOI":"10.1016\/j.cell.2019.11.020","volume":"179","author":"Cross-Disorder Group of the Psychiatric Genomics Consortium","year":"2019","unstructured":"Cross-Disorder Group of the Psychiatric Genomics Consortium, Cross-Disorder Group of the Psychiatric Genomics C. Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders. Cell. 2019;179(7):1469-82 e11. https:\/\/doi.org\/10.1016\/j.cell.2019.11.020.","journal-title":"Cell"},{"issue":"9","key":"613_CR62","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1038\/s41588-022-01148-2","volume":"54","author":"X Zhou","year":"2022","unstructured":"Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, et al. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nat Genet. 2022;54(9):1305\u201319. https:\/\/doi.org\/10.1038\/s41588-022-01148-2.","journal-title":"Nat Genet"},{"issue":"3","key":"613_CR63","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1038\/s41588-019-0344-8","volume":"51","author":"J Grove","year":"2019","unstructured":"Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet. 2019;51(3):431\u201344. https:\/\/doi.org\/10.1038\/s41588-019-0344-8.","journal-title":"Nat Genet"},{"issue":"7304","key":"613_CR64","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1038\/nature09146","volume":"466","author":"D Pinto","year":"2010","unstructured":"Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 2010;466(7304):368\u201372. https:\/\/doi.org\/10.1038\/nature09146.","journal-title":"Nature"},{"issue":"9","key":"613_CR65","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1038\/nrn3992","volume":"16","author":"T Bourgeron","year":"2015","unstructured":"Bourgeron T. From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nat Rev Neurosci. 2015;16(9):551\u201363. https:\/\/doi.org\/10.1038\/nrn3992.","journal-title":"Nat Rev Neurosci"},{"issue":"1","key":"613_CR66","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1016\/j.cell.2011.08.040","volume":"147","author":"O Penagarikano","year":"2011","unstructured":"Penagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell. 2011;147(1):235\u201346. https:\/\/doi.org\/10.1016\/j.cell.2011.08.040.","journal-title":"Cell"},{"issue":"4","key":"613_CR67","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1007\/s11011-016-9815-0","volume":"31","author":"V Rai","year":"2016","unstructured":"Rai V. Association of methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism with autism: evidence of genetic susceptibility. Metab Brain Dis. 2016;31(4):727\u201335. https:\/\/doi.org\/10.1007\/s11011-016-9815-0.","journal-title":"Metab Brain Dis"},{"key":"613_CR68","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.144133","volume":"723","author":"L Mobasheri","year":"2020","unstructured":"Mobasheri L, Moossavi SZ, Esmaeili A, Mohammadoo-Khorasani M, Sarab GA. Association between vitamin D receptor gene FokI and TaqI variants with autism spectrum disorder predisposition in Iranian population. Gene. 2020;723:144133. https:\/\/doi.org\/10.1016\/j.gene.2019.144133.","journal-title":"Gene"},{"issue":"2","key":"613_CR69","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/j.ajhg.2012.12.016","volume":"92","author":"S Girirajan","year":"2013","unstructured":"Girirajan S, Dennis MY, Baker C, Malig M, Coe BP, Campbell CD, et al. Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. Am J Hum Genet. 2013;92(2):221\u201337. https:\/\/doi.org\/10.1016\/j.ajhg.2012.12.016.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"613_CR70","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/ng1933","volume":"39","author":"CM Durand","year":"2007","unstructured":"Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet. 2007;39(1):25\u20137. https:\/\/doi.org\/10.1038\/ng1933.","journal-title":"Nat Genet"},{"key":"613_CR71","doi-asserted-by":"publisher","unstructured":"Cross-Disorder Group of the Psychiatric Genomics C. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet. 2013;381(9875):1371\u20139. https:\/\/doi.org\/10.1016\/S0140-6736(12)62129-1.","DOI":"10.1016\/S0140-6736(12)62129-1"},{"issue":"3","key":"613_CR72","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1038\/nrg.2017.104","volume":"19","author":"R Plomin","year":"2018","unstructured":"Plomin R, von Stumm S. The new genetics of intelligence. Nat Rev Genet. 2018;19(3):148\u201359. https:\/\/doi.org\/10.1038\/nrg.2017.104.","journal-title":"Nat Rev Genet"},{"issue":"1","key":"613_CR73","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1007\/s12035-024-04276-4","volume":"62","author":"K Zhu","year":"2025","unstructured":"Zhu K, Xie X, Hou F, Chen Y, Wang H, Jiang Q, et al. The association between functional variants in long non-coding RNAs and the risk of autism spectrum disorder was not mediated by gut microbiota. Mol Neurobiol. 2025;62(1):412\u201320. https:\/\/doi.org\/10.1007\/s12035-024-04276-4.","journal-title":"Mol Neurobiol"},{"issue":"1","key":"613_CR74","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1038\/mp.2011.170","volume":"18","author":"E Kwon","year":"2013","unstructured":"Kwon E, Wang W, Tsai LH. Validation of schizophrenia-associated genes CSMD1, C10orf26, CACNA1C and TCF4 as miR-137 targets. Mol Psychiatry. 2013;18(1):11\u20132. https:\/\/doi.org\/10.1038\/mp.2011.170.","journal-title":"Mol Psychiatry"},{"issue":"4","key":"613_CR75","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1038\/mp.2014.53","volume":"20","author":"M Strazisar","year":"2015","unstructured":"Strazisar M, Cammaerts S, van der Ven K, Forero DA, Lenaerts AS, Nordin A, et al. MIR137 variants identified in psychiatric patients affect synaptogenesis and neuronal transmission gene sets. Mol Psychiatry. 2015;20(4):472\u201381. https:\/\/doi.org\/10.1038\/mp.2014.53.","journal-title":"Mol Psychiatry"},{"issue":"12","key":"613_CR76","doi-asserted-by":"publisher","first-page":"1689","DOI":"10.1038\/s41593-018-0261-7","volume":"21","author":"Y Cheng","year":"2018","unstructured":"Cheng Y, Wang ZM, Tan W, Wang X, Li Y, Bai B, et al. Partial loss of psychiatric risk gene Mir137 in mice causes repetitive behavior and impairs sociability and learning via increased Pde10a. Nat Neurosci. 2018;21(12):1689\u2013703. https:\/\/doi.org\/10.1038\/s41593-018-0261-7.","journal-title":"Nat Neurosci"},{"issue":"1","key":"613_CR77","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1007\/s12035-024-04309-y","volume":"62","author":"C He","year":"2025","unstructured":"He C, Zhou H, Chen L, Liu Z. NEAT1 Promotes Valproic Acid-Induced Autism Spectrum Disorder by Recruiting YY1 to Regulate UBE3A Transcription. Mol Neurobiol. 2025;62(1):846\u201360. https:\/\/doi.org\/10.1007\/s12035-024-04309-y.","journal-title":"Mol Neurobiol"},{"issue":"8","key":"613_CR78","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1038\/s41593-019-0445-9","volume":"22","author":"B Guo","year":"2019","unstructured":"Guo B, Chen J, Chen Q, Ren K, Feng D, Mao H, et al. Anterior cingulate cortex dysfunction underlies social deficits in Shank3 mutant mice. Nat Neurosci. 2019;22(8):1223\u201334. https:\/\/doi.org\/10.1038\/s41593-019-0445-9.","journal-title":"Nat Neurosci"},{"issue":"41","key":"613_CR79","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.adl4573","volume":"10","author":"I Fischer","year":"2024","unstructured":"Fischer I, Shohat S, Leichtmann-Bardoogo Y, Nayak R, Wiener G, Rosh I, et al. Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs. Sci Adv. 2024;10(41):eadl4573. https:\/\/doi.org\/10.1126\/sciadv.adl4573.","journal-title":"Sci Adv"},{"key":"613_CR80","doi-asserted-by":"publisher","unstructured":"Perera-Murcia GR, Prior-Gonzalez M, Gutierrez-Vera B, Lopez-Huerta VG, Gomez-Martinez C, Contreras-Lopez R, et al. Altered Structural Plasticity Mediated by mGlu and NMDA Receptors and Impaired Cognition in a Genetic ASD Model (Shank3(+\/-) Mice). J Neurosci. 2026;46(5). https:\/\/doi.org\/10.1523\/JNEUROSCI.0791-25.2025.","DOI":"10.1523\/JNEUROSCI.0791-25.2025"},{"issue":"1","key":"613_CR81","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-4-17","volume":"4","author":"C Betancur","year":"2013","unstructured":"Betancur C, Buxbaum JD. SHANK3 haploinsufficiency: a \u201ccommon\u201d but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders. Mol Autism. 2013;4(1):17. https:\/\/doi.org\/10.1186\/2040-2392-4-17.","journal-title":"Mol Autism"},{"key":"613_CR82","doi-asserted-by":"publisher","DOI":"10.1016\/j.phrs.2022.106340","volume":"182","author":"S Jung","year":"2022","unstructured":"Jung S, Park M. Shank postsynaptic scaffolding proteins in autism spectrum disorder: mouse models and their dysfunctions in behaviors, synapses, and molecules. Pharmacol Res. 2022;182:106340. https:\/\/doi.org\/10.1016\/j.phrs.2022.106340.","journal-title":"Pharmacol Res"},{"issue":"4","key":"613_CR83","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1016\/j.neuron.2017.07.040","volume":"95","author":"J Elegheert","year":"2017","unstructured":"Elegheert J, Cvetkovska V, Clayton AJ, Heroven C, Vennekens KM, Smukowski SN, et al. Structural mechanism for modulation of synaptic neuroligin-neurexin signaling by MDGA proteins. Neuron. 2017;95(4):896-913 e10. https:\/\/doi.org\/10.1016\/j.neuron.2017.07.040.","journal-title":"Neuron"},{"issue":"3","key":"613_CR84","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2215905120","volume":"120","author":"WD Hale","year":"2023","unstructured":"Hale WD, Sudhof TC, Huganir RL. Engineered adhesion molecules drive synapse organization. Proc Natl Acad Sci U S A. 2023;120(3):e2215905120. https:\/\/doi.org\/10.1073\/pnas.2215905120.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5847","key":"613_CR85","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1126\/science.1146221","volume":"318","author":"K Tabuchi","year":"2007","unstructured":"Tabuchi K, Blundell J, Etherton MR, Hammer RE, Liu X, Powell CM, et al. A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science. 2007;318(5847):71\u20136. https:\/\/doi.org\/10.1126\/science.1146221.","journal-title":"Science"},{"issue":"10","key":"613_CR86","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/j.biopsych.2023.03.014","volume":"94","author":"F St George-Hyslop","year":"2023","unstructured":"St George-Hyslop F, Haneklaus M, Kivisild T, Livesey FJ. Loss of CNTNAP2 alters human cortical excitatory neuron differentiation and neural network development. Biol Psychiatry. 2023;94(10):780\u201391. https:\/\/doi.org\/10.1016\/j.biopsych.2023.03.014.","journal-title":"Biol Psychiatry"},{"key":"613_CR87","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2021.749164","volume":"14","author":"M Uchigashima","year":"2021","unstructured":"Uchigashima M, Cheung A, Futai K. Neuroligin-3: a circuit-specific synapse organizer that shapes normal function and autism spectrum disorder-associated dysfunction. Front Mol Neurosci. 2021;14:749164. https:\/\/doi.org\/10.3389\/fnmol.2021.749164.","journal-title":"Front Mol Neurosci"},{"issue":"1","key":"613_CR88","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1038\/s41398-022-02009-6","volume":"12","author":"S Qiu","year":"2022","unstructured":"Qiu S, Qiu Y, Li Y, Cong X. Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses. Transl Psychiatry. 2022;12(1):249. https:\/\/doi.org\/10.1038\/s41398-022-02009-6.","journal-title":"Transl Psychiatry"},{"issue":"20","key":"613_CR89","doi-asserted-by":"publisher","first-page":"3422","DOI":"10.1093\/hmg\/ddac115","volume":"31","author":"KA Levy","year":"2022","unstructured":"Levy KA, Weisz ED, Jongens TA. Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility. Hum Mol Genet. 2022;31(20):3422\u201338. https:\/\/doi.org\/10.1093\/hmg\/ddac115.","journal-title":"Hum Mol Genet"},{"issue":"6","key":"613_CR90","doi-asserted-by":"publisher","first-page":"1185","DOI":"10.1038\/s41593-025-01947-w","volume":"28","author":"JR Moore","year":"2025","unstructured":"Moore JR, Nemera MT, D\u2019Souza RD, Hamagami N, Clemens AW, Beard DC, et al. MeCP2 and non-CG DNA methylation stabilize the expression of long genes that distinguish closely related neuron types. Nat Neurosci. 2025;28(6):1185\u201398. https:\/\/doi.org\/10.1038\/s41593-025-01947-w.","journal-title":"Nat Neurosci"},{"issue":"7","key":"613_CR91","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/s41583-025-00926-1","volume":"26","author":"Y Liu","year":"2025","unstructured":"Liu Y, Whitfield TW, Bell GW, Guo R, Flamier A, Young RA, et al. Exploring the complexity of MECP2 function in Rett syndrome. Nat Rev Neurosci. 2025;26(7):379\u201398. https:\/\/doi.org\/10.1038\/s41583-025-00926-1.","journal-title":"Nat Rev Neurosci"},{"issue":"4","key":"613_CR92","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1016\/j.cell.2019.07.024","volume":"178","author":"LL Orefice","year":"2019","unstructured":"Orefice LL, Mosko JR, Morency DT, Wells MF, Tasnim A, Mozeika SM, et al. Targeting peripheral somatosensory neurons to improve tactile-related phenotypes in ASD models. Cell. 2019;178(4):867-86 e24. https:\/\/doi.org\/10.1016\/j.cell.2019.07.024.","journal-title":"Cell"},{"key":"613_CR93","doi-asserted-by":"publisher","unstructured":"Chen E, Schmitt J, McIntosh G, Young BP, Lian T, Liu J, et al. Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila. Genetics. 2025;231(1). https:\/\/doi.org\/10.1093\/genetics\/iyaf121.","DOI":"10.1093\/genetics\/iyaf121"},{"issue":"12","key":"613_CR94","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2023.113559","volume":"42","author":"FX Xu","year":"2023","unstructured":"Xu FX, Wang XT, Cai XY, Liu JY, Guo JW, Yang F, et al. Purkinje-cell-specific MeCP2 deficiency leads to motor deficits and autistic-like behavior due to aberrations in PTP1B-TrkB-SK signaling. Cell Rep. 2023;42(12):113559. https:\/\/doi.org\/10.1016\/j.celrep.2023.113559.","journal-title":"Cell Rep"},{"issue":"4","key":"613_CR95","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/j.chom.2019.02.003","volume":"25","author":"K Chen","year":"2019","unstructured":"Chen K, Luan X, Liu Q, Wang J, Chang X, Snijders AM, et al. Drosophila histone demethylase KDM5 regulates social behavior through immune control and gut microbiota maintenance. Cell Host Microbe. 2019;25(4):537-52 e8. https:\/\/doi.org\/10.1016\/j.chom.2019.02.003.","journal-title":"Cell Host Microbe"},{"issue":"9","key":"613_CR96","doi-asserted-by":"publisher","first-page":"1069","DOI":"10.1177\/1535370221989263","volume":"246","author":"SM Sears","year":"2021","unstructured":"Sears SM, Hewett SJ. Influence of glutamate and GABA transport on brain excitatory\/inhibitory balance. Exp Biol Med (Maywood). 2021;246(9):1069\u201383. https:\/\/doi.org\/10.1177\/1535370221989263.","journal-title":"Exp Biol Med (Maywood)"},{"issue":"6653","key":"613_CR97","doi-asserted-by":"publisher","first-page":"870","DOI":"10.1038\/39908","volume":"389","author":"SL McIntire","year":"1997","unstructured":"McIntire SL, Reimer RJ, Schuske K, Edwards RH, Jorgensen EM. Identification and characterization of the vesicular GABA transporter. Nature. 1997;389(6653):870\u20136. https:\/\/doi.org\/10.1038\/39908.","journal-title":"Nature"},{"issue":"6","key":"613_CR98","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1007\/s12264-017-0166-6","volume":"33","author":"Y Tian","year":"2017","unstructured":"Tian Y, Zhang ZC, Han J. Drosophila Studies on Autism Spectrum Disorders. Neurosci Bull. 2017;33(6):737\u201346. https:\/\/doi.org\/10.1007\/s12264-017-0166-6.","journal-title":"Neurosci Bull"},{"issue":"3","key":"613_CR99","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1056\/NEJMra2300487","volume":"393","author":"RJ Hagerman","year":"2025","unstructured":"Hagerman RJ, Hagerman PJ. The spectrum of fragile X disorders. N Engl J Med. 2025;393(3):281\u20138. https:\/\/doi.org\/10.1056\/NEJMra2300487.","journal-title":"N Engl J Med"},{"key":"613_CR100","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1146\/annurev-med-061109-134644","volume":"62","author":"DD Krueger","year":"2011","unstructured":"Krueger DD, Bear MF. Toward fulfilling the promise of molecular medicine in fragile X syndrome. Annu Rev Med. 2011;62:411\u201329. https:\/\/doi.org\/10.1146\/annurev-med-061109-134644.","journal-title":"Annu Rev Med"},{"key":"613_CR101","doi-asserted-by":"publisher","unstructured":"Fyke W, Velinov M. FMR1 and autism, an intriguing connection revisited. Genes (Basel). 2021;12(8). https:\/\/doi.org\/10.3390\/genes12081218.","DOI":"10.3390\/genes12081218"},{"issue":"3","key":"613_CR102","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0050052","volume":"5","author":"CJ Westmark","year":"2007","unstructured":"Westmark CJ, Malter JS. FMRP mediates mGluR5-dependent translation of amyloid precursor protein. PLoS Biol. 2007;5(3):e52. https:\/\/doi.org\/10.1371\/journal.pbio.0050052.","journal-title":"PLoS Biol"},{"key":"613_CR103","doi-asserted-by":"publisher","unstructured":"Joo Y, Benavides DR. Local protein translation and RNA processing of synaptic proteins in autism spectrum disorder. Int J Mol Sci. 2021;22(6). https:\/\/doi.org\/10.3390\/ijms22062811.","DOI":"10.3390\/ijms22062811"},{"issue":"5","key":"613_CR104","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006062","volume":"12","author":"W Li","year":"2016","unstructured":"Li W, Yao A, Zhi H, Kaur K, Zhu YC, Jia M, et al. Angelman syndrome protein Ube3a regulates synaptic growth and endocytosis by inhibiting BMP signaling in Drosophila. PLoS Genet. 2016;12(5):e1006062. https:\/\/doi.org\/10.1371\/journal.pgen.1006062.","journal-title":"PLoS Genet"},{"issue":"2","key":"613_CR105","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1097\/WCO.0000000000000183","volume":"28","author":"MT Lazaro","year":"2015","unstructured":"Lazaro MT, Golshani P. The utility of rodent models of autism spectrum disorders. Curr Opin Neurol. 2015;28(2):103\u20139. https:\/\/doi.org\/10.1097\/WCO.0000000000000183.","journal-title":"Curr Opin Neurol"},{"key":"613_CR106","doi-asserted-by":"publisher","unstructured":"Roy B, Amemasor E, Hussain S, Castro K. UBE3A: the role in autism spectrum disorders (ASDs) and a potential candidate for biomarker studies and designing therapeutic strategies. Diseases. 2023;12(1). https:\/\/doi.org\/10.3390\/diseases12010007.","DOI":"10.3390\/diseases12010007"},{"issue":"6663","key":"613_CR107","doi-asserted-by":"publisher","first-page":"1197","DOI":"10.1126\/science.ade8978","volume":"381","author":"K Furusawa","year":"2023","unstructured":"Furusawa K, Ishii K, Tsuji M, Tokumitsu N, Hasegawa E, Emoto K. Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling. Science. 2023;381(6663):1197\u2013205. https:\/\/doi.org\/10.1126\/science.ade8978.","journal-title":"Science"},{"key":"613_CR108","doi-asserted-by":"publisher","first-page":"109","DOI":"10.3389\/fnmol.2019.00109","volume":"12","author":"N Khatri","year":"2019","unstructured":"Khatri N, Man HY. The Autism and Angelman Syndrome Protein Ube3A\/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions. Front Mol Neurosci. 2019;12:109. https:\/\/doi.org\/10.3389\/fnmol.2019.00109.","journal-title":"Front Mol Neurosci"},{"issue":"9","key":"613_CR109","doi-asserted-by":"publisher","DOI":"10.1002\/advs.202407405","volume":"12","author":"H Wang","year":"2025","unstructured":"Wang H, Li Y, Li X, Sun Z, Yu F, Pashang A, et al. The primary cilia are associated with the axon initial segment in neurons. Adv Sci (Weinh). 2025;12(9):e2407405. https:\/\/doi.org\/10.1002\/advs.202407405.","journal-title":"Adv Sci (Weinh)"},{"issue":"11","key":"613_CR110","doi-asserted-by":"publisher","first-page":"2531","DOI":"10.1002\/mds.30324","volume":"40","author":"R Maroofian","year":"2025","unstructured":"Maroofian R, Spoto G, Moualek D, Zaki MS, Biswas A, D\u2019Arco F, et al. Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. Mov Disord. 2025;40(11):2531\u20137. https:\/\/doi.org\/10.1002\/mds.30324.","journal-title":"Mov Disord"},{"key":"613_CR111","doi-asserted-by":"publisher","unstructured":"Fang X, Fee T, Davis J, Stolerman ES, Caylor RC. Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay. Cold Spring Harb Mol Case Stud. 2023;9(3). https:\/\/doi.org\/10.1101\/mcs.a006233.","DOI":"10.1101\/mcs.a006233"},{"issue":"7","key":"613_CR112","doi-asserted-by":"publisher","first-page":"867","DOI":"10.1038\/s12276-022-00798-w","volume":"54","author":"S Yoon","year":"2022","unstructured":"Yoon S, Piguel NH, Penzes P. Roles and mechanisms of ankyrin-G in neuropsychiatric disorders. Exp Mol Med. 2022;54(7):867\u201377. https:\/\/doi.org\/10.1038\/s12276-022-00798-w.","journal-title":"Exp Mol Med"},{"key":"613_CR113","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.neubiorev.2020.09.017","volume":"119","author":"L Trobiani","year":"2020","unstructured":"Trobiani L, Meringolo M, Diamanti T, Bourne Y, Marchot P, Martella G, et al. The neuroligins and the synaptic pathway in autism spectrum disorder. Neurosci Biobehav Rev. 2020;119:37\u201351. https:\/\/doi.org\/10.1016\/j.neubiorev.2020.09.017.","journal-title":"Neurosci Biobehav Rev"},{"issue":"5","key":"613_CR114","doi-asserted-by":"publisher","first-page":"1410","DOI":"10.1007\/s13577-021-00546-8","volume":"34","author":"MS Uddin","year":"2021","unstructured":"Uddin MS, Azima A, Aziz MA, Aka TD, Jafrin S, Millat MS, et al. CNTNAP2 gene polymorphisms in autism spectrum disorder and language impairment among Bangladeshi children: a case-control study combined with a meta-analysis. Hum Cell. 2021;34(5):1410\u201323. https:\/\/doi.org\/10.1007\/s13577-021-00546-8.","journal-title":"Hum Cell"},{"key":"613_CR115","doi-asserted-by":"publisher","first-page":"550","DOI":"10.3389\/fped.2020.00550","volume":"8","author":"R Falsaperla","year":"2020","unstructured":"Falsaperla R, Pappalardo XG, Romano C, Marino SD, Corsello G, Ruggieri M, et al. Intronic variant in CNTNAP2 gene in a boy with remarkable conduct disorder, minor facial features, mild intellectual disability, and seizures. Front Pediatr. 2020;8:550. https:\/\/doi.org\/10.3389\/fped.2020.00550.","journal-title":"Front Pediatr"},{"issue":"8","key":"613_CR116","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1038\/ng.3039","volume":"46","author":"T Gaugler","year":"2014","unstructured":"Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet. 2014;46(8):881\u20135. https:\/\/doi.org\/10.1038\/ng.3039.","journal-title":"Nat Genet"},{"issue":"3","key":"613_CR117","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/j.cell.2008.10.016","volume":"135","author":"DH Geschwind","year":"2008","unstructured":"Geschwind DH. Autism: many genes, common pathways? Cell. 2008;135(3):391\u20135. https:\/\/doi.org\/10.1016\/j.cell.2008.10.016.","journal-title":"Cell"},{"key":"613_CR118","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.yhbeh.2017.10.003","volume":"101","author":"A Moosa","year":"2018","unstructured":"Moosa A, Shu H, Sarachana T, Hu VW. Are endocrine disrupting compounds environmental risk factors for autism spectrum disorder? Horm Behav. 2018;101:13\u201321. https:\/\/doi.org\/10.1016\/j.yhbeh.2017.10.003.","journal-title":"Horm Behav"},{"issue":"2","key":"613_CR119","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1038\/nrneurol.2013.278","volume":"10","author":"SS Jeste","year":"2014","unstructured":"Jeste SS, Geschwind DH. Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol. 2014;10(2):74\u201381. https:\/\/doi.org\/10.1038\/nrneurol.2013.278.","journal-title":"Nat Rev Neurol"},{"key":"613_CR120","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1016\/B978-0-444-63233-3.00021-X","volume":"147","author":"G Ramaswami","year":"2018","unstructured":"Ramaswami G, Geschwind DH. Genetics of autism spectrum disorder. Handb Clin Neurol. 2018;147:321\u20139. https:\/\/doi.org\/10.1016\/B978-0-444-63233-3.00021-X.","journal-title":"Handb Clin Neurol"},{"issue":"1","key":"613_CR121","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/ng1136","volume":"34","author":"S Jamain","year":"2003","unstructured":"Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet. 2003;34(1):27\u20139. https:\/\/doi.org\/10.1038\/ng1136.","journal-title":"Nat Genet"},{"issue":"3","key":"613_CR122","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1111\/j.1399-0004.2011.01755.x","volume":"82","author":"C Halgren","year":"2012","unstructured":"Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, et al. Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet. 2012;82(3):248\u201355. https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01755.x.","journal-title":"Clin Genet"},{"key":"613_CR123","doi-asserted-by":"publisher","unstructured":"Andrade C. Autism spectrum disorder, 1: genetic and environmental risk factors. J Clin Psychiatry. 2025;86(2). https:\/\/doi.org\/10.4088\/JCP.25f15878.","DOI":"10.4088\/JCP.25f15878"},{"key":"613_CR124","doi-asserted-by":"publisher","unstructured":"Bey AL, Soderling S, Dawson G. Genetic and environmental influences in autism: guiding the future of tailored early detection and intervention. J Clin Invest. 2025;135(22). https:\/\/doi.org\/10.1172\/JCI201157.","DOI":"10.1172\/JCI201157"},{"issue":"1","key":"613_CR125","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1186\/s12916-024-03617-3","volume":"22","author":"C Love","year":"2024","unstructured":"Love C, Sominsky L, O\u2019Hely M, Berk M, Vuillermin P, Dawson SL. Prenatal environmental risk factors for autism spectrum disorder and their potential mechanisms. BMC Med. 2024;22(1):393. https:\/\/doi.org\/10.1186\/s12916-024-03617-3.","journal-title":"BMC Med"},{"issue":"3","key":"613_CR126","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1007\/s10048-008-0133-5","volume":"9","author":"K Abu-Elneel","year":"2008","unstructured":"Abu-Elneel K, Liu T, Gazzaniga FS, Nishimura Y, Wall DP, Geschwind DH, et al. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics. 2008;9(3):153\u201361. https:\/\/doi.org\/10.1007\/s10048-008-0133-5.","journal-title":"Neurogenetics"},{"key":"613_CR127","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/bs.ctdb.2022.11.001","volume":"152","author":"K Keil-Stietz","year":"2023","unstructured":"Keil-Stietz K, Lein PJ. Genexenvironment interactions in autism spectrum disorders. Curr Top Dev Biol. 2023;152:221\u201384. https:\/\/doi.org\/10.1016\/bs.ctdb.2022.11.001.","journal-title":"Curr Top Dev Biol"},{"key":"613_CR128","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.634837","volume":"9","author":"L Xiao","year":"2021","unstructured":"Xiao L, Yan J, Feng D, Ye S, Yang T, Wei H, et al. Critical role of TLR4 on the microglia activation induced by maternal LPS exposure leading to ASD-like behavior of offspring. Front Cell Dev Biol. 2021;9:634837. https:\/\/doi.org\/10.3389\/fcell.2021.634837.","journal-title":"Front Cell Dev Biol"},{"key":"613_CR129","doi-asserted-by":"publisher","unstructured":"Avram OE, Bratu EA, Curis C, Moroianu LA, Drima E. Modifiable nutritional biomarkers in autism spectrum disorder: a systematic review and meta-analysis of vitamin D, B(12), and homocysteine exposure spanning prenatal development through late adolescence. Int J Mol Sci. 2025;26(9). https:\/\/doi.org\/10.3390\/ijms26094410.","DOI":"10.3390\/ijms26094410"},{"issue":"9","key":"613_CR130","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1002\/aur.1799","volume":"10","author":"D Kim","year":"2017","unstructured":"Kim D, Volk H, Girirajan S, Pendergrass S, Hall MA, Verma SS, et al. The joint effect of air pollution exposure and copy number variation on risk for autism. Autism Res. 2017;10(9):1470\u201380. https:\/\/doi.org\/10.1002\/aur.1799.","journal-title":"Autism Res"},{"key":"613_CR131","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexmp.2025.105002","volume":"144","author":"F Sessa","year":"2025","unstructured":"Sessa F, Carotenuto M, Ferorelli D, Esposito M, Pomara C, Salerno M. Genetic and epigenetic determinants of fetal alcohol spectrum disorders: toward a precision medicine approach. Exp Mol Pathol. 2025;144:105002. https:\/\/doi.org\/10.1016\/j.yexmp.2025.105002.","journal-title":"Exp Mol Pathol"},{"issue":"4","key":"613_CR132","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1002\/aur.1938","volume":"11","author":"I Hertz-Picciotto","year":"2018","unstructured":"Hertz-Picciotto I, Schmidt RJ, Krakowiak P. Understanding environmental contributions to autism: causal concepts and the state of science. Autism Res. 2018;11(4):554\u201386. https:\/\/doi.org\/10.1002\/aur.1938.","journal-title":"Autism Res"},{"issue":"3","key":"613_CR133","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1111\/jcpp.12501","volume":"57","author":"W Mandy","year":"2016","unstructured":"Mandy W, Lai MC. Annual research review: The role of the environment in the developmental psychopathology of autism spectrum condition. J Child Psychol Psychiatry. 2016;57(3):271\u201392. https:\/\/doi.org\/10.1111\/jcpp.12501.","journal-title":"J Child Psychol Psychiatry"},{"key":"613_CR134","doi-asserted-by":"publisher","unstructured":"Montanari M, Martella G, Bonsi P, Meringolo M. Autism spectrum disorder: focus on glutamatergic neurotransmission. Int J Mol Sci. 2022;23(7). https:\/\/doi.org\/10.3390\/ijms23073861.","DOI":"10.3390\/ijms23073861"},{"issue":"1","key":"613_CR135","doi-asserted-by":"publisher","first-page":"6084","DOI":"10.1038\/s41467-021-26131-z","volume":"12","author":"M Pagani","year":"2021","unstructured":"Pagani M, Barsotti N, Bertero A, Trakoshis S, Ulysse L, Locarno A, et al. mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity. Nat Commun. 2021;12(1):6084. https:\/\/doi.org\/10.1038\/s41467-021-26131-z.","journal-title":"Nat Commun"},{"key":"613_CR136","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/bs.ctdb.2020.12.009","volume":"142","author":"D Chowdhury","year":"2021","unstructured":"Chowdhury D, Watters K, Biederer T. Synaptic recognition molecules in development and disease. Curr Top Dev Biol. 2021;142:319\u201370. https:\/\/doi.org\/10.1016\/bs.ctdb.2020.12.009.","journal-title":"Curr Top Dev Biol"},{"key":"613_CR137","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2023.1125087","volume":"16","author":"S Khoja","year":"2023","unstructured":"Khoja S, Haile MT, Chen LY. Advances in neurexin studies and the emerging role of neurexin-2 in autism spectrum disorder. Front Mol Neurosci. 2023;16:1125087. https:\/\/doi.org\/10.3389\/fnmol.2023.1125087.","journal-title":"Front Mol Neurosci"},{"key":"613_CR138","doi-asserted-by":"publisher","DOI":"10.1101\/2025.07.18.664735","author":"J English","year":"2025","unstructured":"English J, McSweeney D, Geng J, Howell E, Ribbe F, Hinderhofer M, et al. Distinct synaptic mechanisms drive NRXN1 variant-mediated pathogenesis in iPSC-derived neuronal models of autism and schizophrenia. bioRxiv. 2025. https:\/\/doi.org\/10.1101\/2025.07.18.664735.","journal-title":"bioRxiv"},{"issue":"1","key":"613_CR139","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1038\/s41392-024-01768-6","volume":"9","author":"Q Zhang","year":"2024","unstructured":"Zhang Q, Xing M, Bao Z, Xu L, Bai Y, Chen W, et al. Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential alpha-secretase cleavages, leading to autism-like phenotypes. Signal Transduct Target Ther. 2024;9(1):51. https:\/\/doi.org\/10.1038\/s41392-024-01768-6.","journal-title":"Signal Transduct Target Ther"},{"issue":"3","key":"613_CR140","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1038\/nrn.2016.183","volume":"18","author":"P Monteiro","year":"2017","unstructured":"Monteiro P, Feng G. SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci. 2017;18(3):147\u201357. https:\/\/doi.org\/10.1038\/nrn.2016.183.","journal-title":"Nat Rev Neurosci"},{"issue":"7344","key":"613_CR141","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1038\/nature09965","volume":"472","author":"J Peca","year":"2011","unstructured":"Peca J, Feliciano C, Ting JT, Wang W, Wells MF, Venkatraman TN, et al. Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature. 2011;472(7344):437\u201342. https:\/\/doi.org\/10.1038\/nature09965.","journal-title":"Nature"},{"issue":"9","key":"613_CR142","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004580","volume":"10","author":"CS Leblond","year":"2014","unstructured":"Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, et al. Meta-analysis of SHANK mutations in autism spectrum disorders: a gradient of severity in cognitive impairments. PLoS Genet. 2014;10(9):e1004580. https:\/\/doi.org\/10.1371\/journal.pgen.1004580.","journal-title":"PLoS Genet"},{"key":"613_CR143","doi-asserted-by":"publisher","unstructured":"Zoghbi HY, Bear MF. Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol. 2012;4(3). https:\/\/doi.org\/10.1101\/cshperspect.a009886.","DOI":"10.1101\/cshperspect.a009886"},{"key":"613_CR144","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.neubiorev.2021.07.014","volume":"129","author":"R Fetit","year":"2021","unstructured":"Fetit R, Hillary RF, Price DJ, Lawrie SM. The neuropathology of autism: a systematic review of post-mortem studies of autism and related disorders. Neurosci Biobehav Rev. 2021;129:35\u201362. https:\/\/doi.org\/10.1016\/j.neubiorev.2021.07.014.","journal-title":"Neurosci Biobehav Rev"},{"issue":"1","key":"613_CR145","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1038\/s41392-022-01081-0","volume":"7","author":"CC Jiang","year":"2022","unstructured":"Jiang CC, Lin LS, Long S, Ke XY, Fukunaga K, Lu YM, et al. Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications. Signal Transduct Target Ther. 2022;7(1):229. https:\/\/doi.org\/10.1038\/s41392-022-01081-0.","journal-title":"Signal Transduct Target Ther"},{"key":"613_CR146","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/j.ijdevneu.2014.03.006","volume":"35","author":"J Chen","year":"2014","unstructured":"Chen J, Alberts I, Li X. Dysregulation of the IGF-I\/PI3K\/AKT\/mTOR signaling pathway in autism spectrum disorders. Int J Dev Neurosci. 2014;35:35\u201341. https:\/\/doi.org\/10.1016\/j.ijdevneu.2014.03.006.","journal-title":"Int J Dev Neurosci"},{"key":"613_CR147","doi-asserted-by":"publisher","unstructured":"Thomas SD, Jha NK, Ojha S, Sadek B. mTOR signaling disruption and its association with the development of autism spectrum disorder. Molecules. 2023;28(4). https:\/\/doi.org\/10.3390\/molecules28041889.","DOI":"10.3390\/molecules28041889"},{"key":"613_CR148","doi-asserted-by":"publisher","unstructured":"Frazier TW. Autism spectrum disorder associated with germline heterozygous PTEN mutations. Cold Spring Harb Perspect Med. 2019;9(10). https:\/\/doi.org\/10.1101\/cshperspect.a037002.","DOI":"10.1101\/cshperspect.a037002"},{"key":"613_CR149","doi-asserted-by":"publisher","unstructured":"Kong C, Bing Z, Yang L, Huang Z, Wang W, Grebogi C. Transcriptomic evidence reveals the dysfunctional mechanism of synaptic plasticity control in ASD. Genes (Basel). 2024;16(1). https:\/\/doi.org\/10.3390\/genes16010011.","DOI":"10.3390\/genes16010011"},{"issue":"9","key":"613_CR150","doi-asserted-by":"publisher","DOI":"10.1016\/j.advnut.2024.100279","volume":"15","author":"M Parenti","year":"2024","unstructured":"Parenti M, Slupsky CM. Disrupted prenatal metabolism may explain the etiology of suboptimal neurodevelopment: a focus on phthalates and micronutrients and their relationship to autism spectrum disorder. Adv Nutr. 2024;15(9):100279. https:\/\/doi.org\/10.1016\/j.advnut.2024.100279.","journal-title":"Adv Nutr"},{"issue":"1","key":"613_CR151","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1136\/jmedgenet-2013-101951","volume":"51","author":"B Adviento","year":"2014","unstructured":"Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, et al. Autism traits in the RASopathies. J Med Genet. 2014;51(1):10\u201320. https:\/\/doi.org\/10.1136\/jmedgenet-2013-101951.","journal-title":"J Med Genet"},{"issue":"5","key":"613_CR152","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1111\/dmcn.13394","volume":"59","author":"S Garg","year":"2017","unstructured":"Garg S, Brooks A, Burns A, Burkitt-Wright E, Kerr B, Huson S, et al. Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras\/MAPK pathway. Dev Med Child Neurol. 2017;59(5):544\u20139. https:\/\/doi.org\/10.1111\/dmcn.13394.","journal-title":"Dev Med Child Neurol"},{"issue":"1","key":"613_CR153","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.neuron.2014.12.023","volume":"85","author":"Y Araki","year":"2015","unstructured":"Araki Y, Zeng M, Zhang M, Huganir RL. Rapid dispersion of SynGAP from synaptic spines triggers AMPA receptor insertion and spine enlargement during LTP. Neuron. 2015;85(1):173\u201389. https:\/\/doi.org\/10.1016\/j.neuron.2014.12.023.","journal-title":"Neuron"},{"issue":"1","key":"613_CR154","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/2040-2392-3-10","volume":"3","author":"HO Kalkman","year":"2012","unstructured":"Kalkman HO. A review of the evidence for the canonical Wnt pathway in autism spectrum disorders. Mol Autism. 2012;3(1):10. https:\/\/doi.org\/10.1186\/2040-2392-3-10.","journal-title":"Mol Autism"},{"issue":"7","key":"613_CR155","doi-asserted-by":"publisher","first-page":"1409","DOI":"10.1007\/s11064-012-0724-2","volume":"37","author":"Y Zhang","year":"2012","unstructured":"Zhang Y, Sun Y, Wang F, Wang Z, Peng Y, Li R. Downregulating the canonical Wnt\/beta-catenin signaling pathway attenuates the susceptibility to autism-like phenotypes by decreasing oxidative stress. Neurochem Res. 2012;37(7):1409\u201319. https:\/\/doi.org\/10.1007\/s11064-012-0724-2.","journal-title":"Neurochem Res"},{"issue":"4","key":"613_CR156","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1159\/000453266","volume":"2","author":"KA Mulligan","year":"2017","unstructured":"Mulligan KA, Cheyette BN. Neurodevelopmental perspectives on Wnt signaling in psychiatry. Mol Neuropsychiatry. 2017;2(4):219\u201346. https:\/\/doi.org\/10.1159\/000453266.","journal-title":"Mol Neuropsychiatry"},{"issue":"10","key":"613_CR157","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1038\/mp.2014.61","volume":"19","author":"JL Mohn","year":"2014","unstructured":"Mohn JL, Alexander J, Pirone A, Palka CD, Lee SY, Mebane L, et al. Adenomatous polyposis coli protein deletion leads to cognitive and autism-like disabilities. Mol Psychiatry. 2014;19(10):1133\u201342. https:\/\/doi.org\/10.1038\/mp.2014.61.","journal-title":"Mol Psychiatry"},{"issue":"1","key":"613_CR158","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1038\/s41380-021-01060-x","volume":"27","author":"JJ Moffat","year":"2022","unstructured":"Moffat JJ, Smith AL, Jung EM, Ka M, Kim WY. Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders. Mol Psychiatry. 2022;27(1):476\u201389. https:\/\/doi.org\/10.1038\/s41380-021-01060-x.","journal-title":"Mol Psychiatry"},{"issue":"1","key":"613_CR159","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1007\/s00441-017-2641-9","volume":"371","author":"R Zhang","year":"2018","unstructured":"Zhang R, Engler A, Taylor V. Notch: an interactive player in neurogenesis and disease. Cell Tissue Res. 2018;371(1):73\u201389. https:\/\/doi.org\/10.1007\/s00441-017-2641-9.","journal-title":"Cell Tissue Res"},{"issue":"45","key":"613_CR160","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.adi2167","volume":"9","author":"R Guo","year":"2023","unstructured":"Guo R, Han D, Song X, Gao Y, Li Z, Li X, et al. Context-dependent regulation of notch signaling in glial development and tumorigenesis. Sci Adv. 2023;9(45):eadi2167. https:\/\/doi.org\/10.1126\/sciadv.adi2167.","journal-title":"Sci Adv"},{"issue":"6","key":"613_CR161","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1016\/j.tibs.2011.03.006","volume":"36","author":"MC Mendoza","year":"2011","unstructured":"Mendoza MC, Er EE, Blenis J. The Ras-ERK and PI3K-mTOR pathways: cross-talk and compensation. Trends Biochem Sci. 2011;36(6):320\u20138. https:\/\/doi.org\/10.1016\/j.tibs.2011.03.006.","journal-title":"Trends Biochem Sci"},{"key":"613_CR162","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21134726","author":"A Genovese","year":"2020","unstructured":"Genovese A, Butler MG. Clinical assessment, genetics, and treatment approaches in autism spectrum disorder (ASD). Int J Mol Sci. 2020;21(13). https:\/\/doi.org\/10.3390\/ijms21134726.","journal-title":"Int J Mol Sci"},{"issue":"23","key":"613_CR163","doi-asserted-by":"publisher","first-page":"2002117","DOI":"10.1002\/advs.202002117","volume":"7","author":"D Zhang","year":"2020","unstructured":"Zhang D, Liu C, Li H, Jiao J. Deficiency of STING Signaling in Embryonic Cerebral Cortex Leads to Neurogenic Abnormalities and Autistic-Like Behaviors. Adv Sci (Weinh). 2020;7(23):2002117. https:\/\/doi.org\/10.1002\/advs.202002117.","journal-title":"Adv Sci (Weinh)"},{"key":"613_CR164","doi-asserted-by":"publisher","unstructured":"Mercurio S, Serra L, Nicolis SK. More than just stem cells: functional roles of the transcription factor Sox2 in differentiated glia and neurons. Int J Mol Sci. 2019;20(18). https:\/\/doi.org\/10.3390\/ijms20184540.","DOI":"10.3390\/ijms20184540"},{"issue":"3","key":"613_CR165","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1242\/dev.010801","volume":"135","author":"M Cavallaro","year":"2008","unstructured":"Cavallaro M, Mariani J, Lancini C, Latorre E, Caccia R, Gullo F, et al. Impaired generation of mature neurons by neural stem cells from hypomorphic Sox2 mutants. Development. 2008;135(3):541\u201357. https:\/\/doi.org\/10.1242\/dev.010801.","journal-title":"Development"},{"issue":"4","key":"613_CR166","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1007\/s10571-020-01010-1","volume":"42","author":"S Rahi","year":"2022","unstructured":"Rahi S, Mehan S. Understanding Abnormal SMO-SHH Signaling in Autism Spectrum Disorder: Potential Drug Target and Therapeutic Goals. Cell Mol Neurobiol. 2022;42(4):931\u201353. https:\/\/doi.org\/10.1007\/s10571-020-01010-1.","journal-title":"Cell Mol Neurobiol"},{"key":"613_CR167","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.brainres.2018.02.041","volume":"1705","author":"T Kikkawa","year":"2019","unstructured":"Kikkawa T, Casingal CR, Chun SH, Shinohara H, Hiraoka K, Osumi N. The role of Pax6 in brain development and its impact on pathogenesis of autism spectrum disorder. Brain Res. 2019;1705:95\u2013103. https:\/\/doi.org\/10.1016\/j.brainres.2018.02.041.","journal-title":"Brain Res"},{"issue":"2","key":"613_CR168","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1016\/j.cell.2015.06.034","volume":"162","author":"J Mariani","year":"2015","unstructured":"Mariani J, Coppola G, Zhang P, Abyzov A, Provini L, Tomasini L, et al. FOXG1-dependent dysregulation of GABA\/glutamate neuron differentiation in autism spectrum disorders. Cell. 2015;162(2):375\u201390. https:\/\/doi.org\/10.1016\/j.cell.2015.06.034.","journal-title":"Cell"},{"issue":"6","key":"613_CR169","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1007\/s00401-010-0655-4","volume":"119","author":"J Wegiel","year":"2010","unstructured":"Wegiel J, Kuchna I, Nowicki K, Imaki H, Wegiel J, Marchi E, et al. The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathol. 2010;119(6):755\u201370. https:\/\/doi.org\/10.1007\/s00401-010-0655-4.","journal-title":"Acta Neuropathol"},{"key":"613_CR170","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1016\/j.ijdevneu.2017.02.003","volume":"62","author":"A Zhubi","year":"2017","unstructured":"Zhubi A, Chen Y, Guidotti A, Grayson DR. Epigenetic regulation of RELN and GAD1 in the frontal cortex (FC) of autism spectrum disorder (ASD) subjects. Int J Dev Neurosci. 2017;62:63\u201372. https:\/\/doi.org\/10.1016\/j.ijdevneu.2017.02.003.","journal-title":"Int J Dev Neurosci"},{"issue":"2","key":"613_CR171","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1523\/JNEUROSCI.4093-08.2009","volume":"29","author":"JB Ackman","year":"2009","unstructured":"Ackman JB, Aniksztejn L, Crepel V, Becq H, Pellegrino C, Cardoso C, et al. Abnormal network activity in a targeted genetic model of human double cortex. J Neurosci. 2009;29(2):313\u201327. https:\/\/doi.org\/10.1523\/JNEUROSCI.4093-08.2009.","journal-title":"J Neurosci"},{"issue":"23","key":"613_CR172","doi-asserted-by":"publisher","first-page":"6473","DOI":"10.1016\/j.cell.2025.07.047","volume":"188","author":"B Jia","year":"2025","unstructured":"Jia B, Shen Z, Zhu S, Huang J, Liao Z, Zhao S, et al. Shank3 oligomerization governs material properties of the postsynaptic density condensate and synaptic plasticity. Cell. 2025;188(23):6473-91 e21. https:\/\/doi.org\/10.1016\/j.cell.2025.07.047.","journal-title":"Cell"},{"key":"613_CR173","doi-asserted-by":"publisher","unstructured":"Sun H, Shen Y, Ni P, Liu X, Li Y, Qiu Z, et al. Autism-associated neuroligin 3 deficiency in medial septum causes social deficits and sleep loss in mice. J Clin Invest. 2024;134(19). https:\/\/doi.org\/10.1172\/JCI176770.","DOI":"10.1172\/JCI176770"},{"issue":"3","key":"613_CR174","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/dneu.22874","volume":"82","author":"B Chen","year":"2022","unstructured":"Chen B, Linke A, Olson L, Kohli J, Kinnear M, Sereno M, et al. Cortical myelination in toddlers and preschoolers with autism spectrum disorder. Dev Neurobiol. 2022;82(3):261\u201374. https:\/\/doi.org\/10.1002\/dneu.22874.","journal-title":"Dev Neurobiol"},{"key":"613_CR175","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbih.2021.100306","volume":"16","author":"T Strekalova","year":"2021","unstructured":"Strekalova T, Svirin E, Veniaminova E, Kopeikina E, Veremeyko T, Yung AWY, et al. ASD-like behaviors, a dysregulated inflammatory response and decreased expression of PLP1 characterize mice deficient for sialyltransferase ST3GAL5. Brain Behav Immun Health. 2021;16:100306. https:\/\/doi.org\/10.1016\/j.bbih.2021.100306.","journal-title":"Brain Behav Immun Health"},{"key":"613_CR176","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/j.bbi.2022.12.001","volume":"108","author":"HK Hughes","year":"2023","unstructured":"Hughes HK, Moreno RJ, Ashwood P. Innate immune dysfunction and neuroinflammation in autism spectrum disorder (ASD). Brain Behav Immun. 2023;108:245\u201354. https:\/\/doi.org\/10.1016\/j.bbi.2022.12.001.","journal-title":"Brain Behav Immun"},{"key":"613_CR177","doi-asserted-by":"publisher","unstructured":"Siniscalco D, Schultz S, Brigida AL, Antonucci N. Inflammation and neuro-immune dysregulations in autism spectrum disorders. Pharmaceuticals (Basel). 2018;11(2). https:\/\/doi.org\/10.3390\/ph11020056.","DOI":"10.3390\/ph11020056"},{"key":"613_CR178","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2022.958661","volume":"13","author":"C Hu","year":"2022","unstructured":"Hu C, Li H, Li J, Luo X, Hao Y. Microglia: synaptic modulator in autism spectrum disorder. Front Psychiatry. 2022;13:958661. https:\/\/doi.org\/10.3389\/fpsyt.2022.958661.","journal-title":"Front Psychiatry"},{"issue":"2","key":"613_CR179","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1176\/appi.focus.24022004","volume":"22","author":"HK Hughes","year":"2024","unstructured":"Hughes HK, Moreno RJ, Ashwood P. Innate immune dysfunction and neuroinflammation in autism spectrum disorder (ASD). Focus (Am Psychiatr Publ). 2024;22(2):229\u201341. https:\/\/doi.org\/10.1176\/appi.focus.24022004.","journal-title":"Focus (Am Psychiatr Publ)"},{"key":"613_CR180","doi-asserted-by":"publisher","first-page":"1125428","DOI":"10.3389\/fnins.2023.1125428","volume":"17","author":"Y Xiong","year":"2023","unstructured":"Xiong Y, Chen J, Li Y. Microglia and astrocytes underlie neuroinflammation and synaptic susceptibility in autism spectrum disorder. Front Neurosci. 2023;17:1125428. https:\/\/doi.org\/10.3389\/fnins.2023.1125428.","journal-title":"Front Neurosci"},{"issue":"9","key":"613_CR181","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1038\/s41582-021-00530-8","volume":"17","author":"VX Han","year":"2021","unstructured":"Han VX, Patel S, Jones HF, Dale RC. Maternal immune activation and neuroinflammation in human neurodevelopmental disorders. Nat Rev Neurol. 2021;17(9):564\u201379. https:\/\/doi.org\/10.1038\/s41582-021-00530-8.","journal-title":"Nat Rev Neurol"},{"key":"613_CR182","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.cyto.2018.03.034","volume":"108","author":"MM Eftekharian","year":"2018","unstructured":"Eftekharian MM, Ghafouri-Fard S, Noroozi R, Omrani MD, Arsang-Jang S, Ganji M, et al. Cytokine profile in autistic patients. Cytokine. 2018;108:120\u20136. https:\/\/doi.org\/10.1016\/j.cyto.2018.03.034.","journal-title":"Cytokine"},{"issue":"7","key":"613_CR183","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1016\/j.molmed.2011.03.001","volume":"17","author":"PH Patterson","year":"2011","unstructured":"Patterson PH. Maternal infection and immune involvement in autism. Trends Mol Med. 2011;17(7):389\u201394. https:\/\/doi.org\/10.1016\/j.molmed.2011.03.001.","journal-title":"Trends Mol Med"},{"key":"613_CR184","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.bbi.2014.09.001","volume":"44","author":"BK Lee","year":"2015","unstructured":"Lee BK, Magnusson C, Gardner RM, Blomstrom A, Newschaffer CJ, Burstyn I, et al. Maternal hospitalization with infection during pregnancy and risk of autism spectrum disorders. Brain Behav Immun. 2015;44:100\u20135. https:\/\/doi.org\/10.1016\/j.bbi.2014.09.001.","journal-title":"Brain Behav Immun"},{"key":"613_CR185","doi-asserted-by":"publisher","first-page":"165","DOI":"10.1016\/j.bbi.2016.06.005","volume":"58","author":"HY Jiang","year":"2016","unstructured":"Jiang HY, Xu LL, Shao L, Xia RM, Yu ZH, Ling ZX, et al. Maternal infection during pregnancy and risk of autism spectrum disorders: A systematic review and meta-analysis. Brain Behav Immun. 2016;58:165\u201372. https:\/\/doi.org\/10.1016\/j.bbi.2016.06.005.","journal-title":"Brain Behav Immun"},{"key":"613_CR186","doi-asserted-by":"publisher","first-page":"405","DOI":"10.3389\/fncel.2018.00405","volume":"12","author":"HK Hughes","year":"2018","unstructured":"Hughes HK, Mills Ko E, Rose D, Ashwood P. Immune dysfunction and autoimmunity as pathological mechanisms in autism spectrum disorders. Front Cell Neurosci. 2018;12:405. https:\/\/doi.org\/10.3389\/fncel.2018.00405.","journal-title":"Front Cell Neurosci"},{"key":"613_CR187","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.3389\/fimmu.2019.01474","volume":"10","author":"R Mazon-Cabrera","year":"2019","unstructured":"Mazon-Cabrera R, Vandormael P, Somers V. Antigenic targets of patient and maternal autoantibodies in autism spectrum disorder. Front Immunol. 2019;10:1474. https:\/\/doi.org\/10.3389\/fimmu.2019.01474.","journal-title":"Front Immunol"},{"issue":"5","key":"613_CR188","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1038\/s41386-024-02004-z","volume":"50","author":"H Kurahashi","year":"2025","unstructured":"Kurahashi H, Kunisawa K, Tanaka KF, Kubota H, Hasegawa M, Miyachi M, et al. Autism spectrum disorder-like behaviors induced by hyper-glutamatergic NMDA receptor signaling through hypo-serotonergic 5-HT(1A) receptor signaling in the prefrontal cortex in mice exposed to prenatal valproic acid. Neuropsychopharmacology. 2025;50(5):739\u201350. https:\/\/doi.org\/10.1038\/s41386-024-02004-z.","journal-title":"Neuropsychopharmacology"},{"key":"613_CR189","doi-asserted-by":"publisher","unstructured":"Srikantha P, Mohajeri MH. The possible role of the microbiota-gut-brain-axis in autism spectrum disorder. Int J Mol Sci. 2019;20(9). https:\/\/doi.org\/10.3390\/ijms20092115.","DOI":"10.3390\/ijms20092115"},{"issue":"9","key":"613_CR190","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1038\/s41380-019-0426-0","volume":"24","author":"VS Sohal","year":"2019","unstructured":"Sohal VS, Rubenstein JLR. Excitation-inhibition balance as a framework for investigating mechanisms in neuropsychiatric disorders. Mol Psychiatry. 2019;24(9):1248\u201357. https:\/\/doi.org\/10.1038\/s41380-019-0426-0.","journal-title":"Mol Psychiatry"},{"issue":"5","key":"613_CR191","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1034\/j.1601-183x.2003.00037.x","volume":"2","author":"JL Rubenstein","year":"2003","unstructured":"Rubenstein JL, Merzenich MM. Model of autism: increased ratio of excitation\/inhibition in key neural systems. Genes Brain Behav. 2003;2(5):255\u201367. https:\/\/doi.org\/10.1034\/j.1601-183x.2003.00037.x.","journal-title":"Genes Brain Behav"},{"issue":"1","key":"613_CR192","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1038\/s41398-023-02317-5","volume":"13","author":"V Hollestein","year":"2023","unstructured":"Hollestein V, Poelmans G, Forde NJ, Beckmann CF, Ecker C, Mann C, et al. Excitatory\/inhibitory imbalance in autism: the role of glutamate and GABA gene-sets in symptoms and cortical brain structure. Transl Psychiatry. 2023;13(1):18. https:\/\/doi.org\/10.1038\/s41398-023-02317-5.","journal-title":"Transl Psychiatry"},{"issue":"10","key":"613_CR193","doi-asserted-by":"publisher","first-page":"838","DOI":"10.1016\/j.biopsych.2016.05.011","volume":"81","author":"E Lee","year":"2017","unstructured":"Lee E, Lee J, Kim E. Excitation\/Inhibition Imbalance in Animal Models of Autism Spectrum Disorders. Biol Psychiatry. 2017;81(10):838\u201347. https:\/\/doi.org\/10.1016\/j.biopsych.2016.05.011.","journal-title":"Biol Psychiatry"},{"issue":"1","key":"613_CR194","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/2040-2392-4-6","volume":"4","author":"C Shimmura","year":"2013","unstructured":"Shimmura C, Suzuki K, Iwata Y, Tsuchiya KJ, Ohno K, Matsuzaki H, et al. Enzymes in the glutamate-glutamine cycle in the anterior cingulate cortex in postmortem brain of subjects with autism. Mol Autism. 2013;4(1):6. https:\/\/doi.org\/10.1186\/2040-2392-4-6.","journal-title":"Mol Autism"},{"issue":"11","key":"613_CR195","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1038\/ng.677","volume":"42","author":"S Endele","year":"2010","unstructured":"Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, et al. Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet. 2010;42(11):1021\u20136. https:\/\/doi.org\/10.1038\/ng.677.","journal-title":"Nat Genet"},{"issue":"1","key":"613_CR196","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s13229-020-00339-0","volume":"11","author":"L Culotta","year":"2020","unstructured":"Culotta L, Penzes P. Exploring the mechanisms underlying excitation\/inhibition imbalance in human iPSC-derived models of ASD. Mol Autism. 2020;11(1):32. https:\/\/doi.org\/10.1186\/s13229-020-00339-0.","journal-title":"Mol Autism"},{"issue":"8","key":"613_CR197","doi-asserted-by":"publisher","first-page":"3817","DOI":"10.1038\/s41380-025-03028-7","volume":"30","author":"A Abromeit","year":"2025","unstructured":"Abromeit A, Hooijmans CR, LeMaoult C, Drion CM, Kas M. Animal studies reveal downregulation of the Beclin-1 autophagy pathway as shared mechanism in Autism Spectrum Disorder: a systematic review and meta-analysis. Mol Psychiatry. 2025;30(8):3817\u201328. https:\/\/doi.org\/10.1038\/s41380-025-03028-7.","journal-title":"Mol Psychiatry"},{"issue":"4","key":"613_CR198","doi-asserted-by":"publisher","first-page":"635","DOI":"10.3934\/Neuroscience.2025031","volume":"12","author":"D Madia","year":"2025","unstructured":"Madia D, Sheikh M, Pethe A, Telange D, Agrawal S. Excitatory\/inhibitory balance in autism spectrum disorders: integrating genetic, neurotransmitter and computational perspectives. AIMS Neurosci. 2025;12(4):635\u201375. https:\/\/doi.org\/10.3934\/Neuroscience.2025031.","journal-title":"AIMS Neurosci"},{"issue":"1","key":"613_CR199","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1016\/j.neuron.2018.03.008","volume":"98","author":"CK Vuong","year":"2018","unstructured":"Vuong CK, Wei W, Lee JA, Lin CH, Damianov A, de la Torre-Ubieta L, et al. Rbfox1 regulates synaptic transmission through the inhibitory neuron-specific vSNARE Vamp1. Neuron. 2018;98(1):127-41 e7. https:\/\/doi.org\/10.1016\/j.neuron.2018.03.008.","journal-title":"Neuron"},{"key":"613_CR200","doi-asserted-by":"publisher","unstructured":"Bin-Khattaf RM, Alonazi MA, Al-Dbass AM, Almnaizel AT, Aloudah HS, Soliman DA, et al. Probiotic ameliorating effects of altered GABA\/glutamate signaling in a rodent model of autism. Metabolites. 2022;12(8). https:\/\/doi.org\/10.3390\/metabo12080720.","DOI":"10.3390\/metabo12080720"},{"issue":"3","key":"613_CR201","doi-asserted-by":"publisher","DOI":"10.1111\/acel.14408","volume":"24","author":"AK Singh","year":"2025","unstructured":"Singh AK, Joshi I, Reddy NMN, Purushotham SS, Eswaramoorthy M, Vasudevan M, et al. Epigenetic modulation rescues neurodevelopmental deficits in Syngap1(+\/-) mice. Aging Cell. 2025;24(3):e14408. https:\/\/doi.org\/10.1111\/acel.14408.","journal-title":"Aging Cell"},{"issue":"1101","key":"613_CR202","doi-asserted-by":"publisher","DOI":"10.1259\/bjr.20180944","volume":"92","author":"RG Port","year":"2019","unstructured":"Port RG, Oberman LM, Roberts TP. Revisiting the excitation\/inhibition imbalance hypothesis of ASD through a clinical lens. Br J Radiol. 2019;92(1101):20180944. https:\/\/doi.org\/10.1259\/bjr.20180944.","journal-title":"Br J Radiol"},{"issue":"1","key":"613_CR203","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1007\/s10803-005-0039-0","volume":"36","author":"F Happe","year":"2006","unstructured":"Happe F, Frith U. The weak coherence account: detail-focused cognitive style in autism spectrum disorders. J Autism Dev Disord. 2006;36(1):5\u201325. https:\/\/doi.org\/10.1007\/s10803-005-0039-0.","journal-title":"J Autism Dev Disord"},{"issue":"3","key":"613_CR204","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.pcl.2020.02.007","volume":"67","author":"T Kodak","year":"2020","unstructured":"Kodak T, Bergmann S. Autism spectrum disorder: characteristics, associated behaviors, and early intervention. Pediatr Clin North Am. 2020;67(3):525\u201335. https:\/\/doi.org\/10.1016\/j.pcl.2020.02.007.","journal-title":"Pediatr Clin North Am"},{"key":"613_CR205","unstructured":"Mohan L, Yilanli M, Ray S. Conduct Disorder. StatPearls. Treasure Island (FL). 2026."},{"key":"613_CR206","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-026-00706-w","author":"C Lord","year":"2026","unstructured":"Lord C, Brugha TS, Charman T, Cusack J, Dumas G, Frazier T, et al. Author correction: autism spectrum disorder. Nat Rev Dis Primers. 2026;12(1). https:\/\/doi.org\/10.1038\/s41572-026-00706-w.","journal-title":"Nat Rev Dis Primers"},{"key":"613_CR207","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/j.neubiorev.2019.04.007","volume":"103","author":"S Tordjman","year":"2019","unstructured":"Tordjman S, Celume MP, Denis L, Motillon T, Keromnes G. Reframing schizophrenia and autism as bodily self-consciousness disorders leading to a deficit of theory of mind and empathy with social communication impairments. Neurosci Biobehav Rev. 2019;103:401\u201313. https:\/\/doi.org\/10.1016\/j.neubiorev.2019.04.007.","journal-title":"Neurosci Biobehav Rev"},{"issue":"4","key":"613_CR208","doi-asserted-by":"publisher","first-page":"562","DOI":"10.1037\/a0023341","volume":"137","author":"SR Leekam","year":"2011","unstructured":"Leekam SR, Prior MR, Uljarevic M. Restricted and repetitive behaviors in autism spectrum disorders: a review of research in the last decade. Psychol Bull. 2011;137(4):562\u201393. https:\/\/doi.org\/10.1037\/a0023341.","journal-title":"Psychol Bull"},{"issue":"6","key":"613_CR209","doi-asserted-by":"publisher","first-page":"1287","DOI":"10.1007\/s10803-012-1671-0","volume":"43","author":"SL Bishop","year":"2013","unstructured":"Bishop SL, Hus V, Duncan A, Huerta M, Gotham K, Pickles A, et al. Subcategories of restricted and repetitive behaviors in children with autism spectrum disorders. J Autism Dev Disord. 2013;43(6):1287\u201397. https:\/\/doi.org\/10.1007\/s10803-012-1671-0.","journal-title":"J Autism Dev Disord"},{"issue":"10","key":"613_CR210","doi-asserted-by":"publisher","first-page":"1218","DOI":"10.1038\/nn1770","volume":"9","author":"F Happe","year":"2006","unstructured":"Happe F, Ronald A, Plomin R. Time to give up on a single explanation for autism. Nat Neurosci. 2006;9(10):1218\u201320. https:\/\/doi.org\/10.1038\/nn1770.","journal-title":"Nat Neurosci"},{"key":"613_CR211","doi-asserted-by":"publisher","unstructured":"Ueoka I, Pham HTN, Matsumoto K, Yamaguchi M. Autism spectrum disorder-related syndromes: modeling with Drosophila and rodents. Int J Mol Sci. 2019;20(17). https:\/\/doi.org\/10.3390\/ijms20174071.","DOI":"10.3390\/ijms20174071"},{"issue":"4","key":"613_CR212","doi-asserted-by":"publisher","first-page":"300060524124529","DOI":"10.1177\/03000605241245293","volume":"52","author":"D Jiao","year":"2024","unstructured":"Jiao D, Xu Y, Tian F, Zhou Y, Chen D, Wang Y. Establishment of animal models and behavioral studies for autism spectrum disorders. J Int Med Res. 2024;52(4):3000605241245293. https:\/\/doi.org\/10.1177\/03000605241245293.","journal-title":"J Int Med Res"},{"issue":"6","key":"613_CR213","doi-asserted-by":"publisher","first-page":"800","DOI":"10.24272\/j.issn.2095-8137.2021.251","volume":"42","author":"Z Li","year":"2021","unstructured":"Li Z, Zhu YX, Gu LJ, Cheng Y. Understanding autism spectrum disorders with animal models: applications, insights, and perspectives. Zool Res. 2021;42(6):800\u201324. https:\/\/doi.org\/10.24272\/j.issn.2095-8137.2021.251.","journal-title":"Zool Res"},{"issue":"3\u20134","key":"613_CR214","doi-asserted-by":"publisher","first-page":"306","DOI":"10.3109\/01677063.2012.729626","volume":"26","author":"A Iyengar","year":"2012","unstructured":"Iyengar A, Imoehl J, Ueda A, Nirschl J, Wu CF. Automated quantification of locomotion, social interaction, and mate preference in Drosophila mutants. J Neurogenet. 2012;26(3\u20134):306\u201316. https:\/\/doi.org\/10.3109\/01677063.2012.729626.","journal-title":"J Neurogenet"},{"issue":"2","key":"613_CR215","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1111\/j.1601-183X.2011.00740.x","volume":"11","author":"AF Simon","year":"2012","unstructured":"Simon AF, Chou MT, Salazar ED, Nicholson T, Saini N, Metchev S, et al. A simple assay to study social behavior in Drosophila: measurement of social space within a group. Genes Brain Behav. 2012;11(2):243\u201352. https:\/\/doi.org\/10.1111\/j.1601-183X.2011.00740.x.","journal-title":"Genes Brain Behav"},{"issue":"4","key":"613_CR216","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1534\/g3.115.026484","volume":"6","author":"LB King","year":"2016","unstructured":"King LB, Koch M, Murphy KR, Velazquez Y, Ja WW, Tomchik SM. Neurofibromin loss of function drives excessive grooming in Drosophila. G3 (Bethesda). 2016;6(4):1083\u201393. https:\/\/doi.org\/10.1534\/g3.115.026484.","journal-title":"G3 (Bethesda)"},{"key":"613_CR217","doi-asserted-by":"publisher","unstructured":"Yost RT, Robinson JW, Baxter CM, Scott AM, Brown LP, Aletta MS, et al. Abnormal social interactions in a Drosophila mutant of an autism candidate gene: neuroligin 3. Int J Mol Sci. 2020. https:\/\/doi.org\/10.3390\/ijms21134601.","DOI":"10.3390\/ijms21134601"},{"issue":"4","key":"613_CR218","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1016\/j.biopsych.2019.04.029","volume":"86","author":"M Fenckova","year":"2019","unstructured":"Fenckova M, Blok LER, Asztalos L, Goodman DP, Cizek P, Singgih EL, et al. Habituation learning is a widely affected mechanism in Drosophila models of intellectual disability and autism spectrum disorders. Biol Psychiatry. 2019;86(4):294\u2013305. https:\/\/doi.org\/10.1016\/j.biopsych.2019.04.029.","journal-title":"Biol Psychiatry"},{"key":"613_CR219","doi-asserted-by":"publisher","unstructured":"Milojevic S, Ghosh A, Makevic V, Stojkovic M, Capovilla M, Tosti T, et al. Circadian rhythm and sleep analyses in a fruit fly model of fragile X syndrome using a video-based automated behavioral research system. Int J Mol Sci. 2024;25(14). https:\/\/doi.org\/10.3390\/ijms25147949.","DOI":"10.3390\/ijms25147949"},{"issue":"9","key":"613_CR220","doi-asserted-by":"publisher","first-page":"1232","DOI":"10.1038\/mp.2016.15","volume":"21","author":"K Furukubo-Tokunaga","year":"2016","unstructured":"Furukubo-Tokunaga K, Kurita K, Honjo K, Pandey H, Ando T, Takayama K, et al. DISC1 causes associative memory and neurodevelopmental defects in fruit flies. Mol Psychiatry. 2016;21(9):1232\u201343. https:\/\/doi.org\/10.1038\/mp.2016.15.","journal-title":"Mol Psychiatry"},{"issue":"7","key":"613_CR221","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1016\/j.cub.2016.02.031","volume":"26","author":"F Mohammad","year":"2016","unstructured":"Mohammad F, Aryal S, Ho J, Stewart JC, Norman NA, Tan TL, et al. Ancient anxiety pathways influence Drosophila defense behaviors. Curr Biol. 2016;26(7):981\u20136. https:\/\/doi.org\/10.1016\/j.cub.2016.02.031.","journal-title":"Curr Biol"},{"issue":"7","key":"613_CR222","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1002\/aur.2740","volume":"15","author":"S Maier","year":"2022","unstructured":"Maier S, Duppers AL, Runge K, Dacko M, Lange T, Fangmeier T, et al. Increased prefrontal GABA concentrations in adults with autism spectrum disorders. Autism Res. 2022;15(7):1222\u201336. https:\/\/doi.org\/10.1002\/aur.2740.","journal-title":"Autism Res"},{"issue":"7","key":"613_CR223","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.3002210","volume":"21","author":"S Salim","year":"2023","unstructured":"Salim S, Hussain S, Banu A, Gowda SBM, Ahammad F, Alwa A, et al. The ortholog of human ssDNA-binding protein SSBP3 influences neurodevelopment and autism-like behaviors in Drosophila melanogaster. PLoS Biol. 2023;21(7):e3002210. https:\/\/doi.org\/10.1371\/journal.pbio.3002210.","journal-title":"PLoS Biol"},{"key":"613_CR224","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.jpsychires.2021.09.013","volume":"143","author":"Y Liu","year":"2021","unstructured":"Liu Y, Shen L, Zhang Y, Zhao R, Liu C, Luo S, et al. Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping. J Psychiatr Res. 2021;143:113\u201322. https:\/\/doi.org\/10.1016\/j.jpsychires.2021.09.013.","journal-title":"J Psychiatr Res"},{"key":"613_CR225","doi-asserted-by":"publisher","unstructured":"Coll-Tane M, Krebbers A, Castells-Nobau A, Zweier C, Schenck A. Intellectual disability and autism spectrum disorders \u201con the fly\u201d: insights from Drosophila. Dis Model Mech. 2019;12(5). https:\/\/doi.org\/10.1242\/dmm.039180.","DOI":"10.1242\/dmm.039180"},{"issue":"6","key":"613_CR226","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1016\/j.cell.2020.02.044","volume":"180","author":"AK Kanellopoulos","year":"2020","unstructured":"Kanellopoulos AK, Mariano V, Spinazzi M, Woo YJ, McLean C, Pech U, et al. Aralar sequesters GABA into hyperactive mitochondria, causing social behavior deficits. Cell. 2020;180(6):1178-97 e20. https:\/\/doi.org\/10.1016\/j.cell.2020.02.044.","journal-title":"Cell"},{"issue":"10","key":"613_CR227","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006864","volume":"13","author":"TS Koemans","year":"2017","unstructured":"Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, et al. Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder. PLoS Genet. 2017;13(10):e1006864. https:\/\/doi.org\/10.1371\/journal.pgen.1006864.","journal-title":"PLoS Genet"},{"issue":"48","key":"613_CR228","doi-asserted-by":"publisher","first-page":"11592","DOI":"10.1523\/JNEUROSCI.0893-17.2017","volume":"37","author":"S Wu","year":"2017","unstructured":"Wu S, Gan G, Zhang Z, Sun J, Wang Q, Gao Z, et al. A presynaptic function of Shank protein in Drosophila. J Neurosci. 2017;37(48):11592\u2013604. https:\/\/doi.org\/10.1523\/JNEUROSCI.0893-17.2017.","journal-title":"J Neurosci"},{"issue":"9","key":"613_CR229","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000179","volume":"4","author":"HN Cukier","year":"2008","unstructured":"Cukier HN, Perez AM, Collins AL, Zhou Z, Zoghbi HY, Botas J. Genetic modifiers of MeCP2 function in Drosophila. PLoS Genet. 2008;4(9):e1000179. https:\/\/doi.org\/10.1371\/journal.pgen.1000179.","journal-title":"PLoS Genet"},{"issue":"6","key":"613_CR230","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1016\/j.conb.2011.04.009","volume":"21","author":"CL Gatto","year":"2011","unstructured":"Gatto CL, Broadie K. Drosophila modeling of heritable neurodevelopmental disorders. Curr Opin Neurobiol. 2011;21(6):834\u201341. https:\/\/doi.org\/10.1016\/j.conb.2011.04.009.","journal-title":"Curr Opin Neurobiol"},{"key":"613_CR231","doi-asserted-by":"publisher","unstructured":"Dey S, Mondal P, Mandal S, Sasmal S, Chakraborty N, Das A. Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder. J Vis Exp. 2024; (211)https:\/\/doi.org\/10.3791\/66649.","DOI":"10.3791\/66649"},{"key":"613_CR232","doi-asserted-by":"publisher","first-page":"574","DOI":"10.3389\/fgene.2019.00574","volume":"10","author":"KA Hope","year":"2019","unstructured":"Hope KA, Flatten D, Cavitch P, May B, Sutcliffe JS, O\u2019Donnell J, et al. The Drosophila Gene Sulfateless Modulates Autism-Like Behaviors. Front Genet. 2019;10:574. https:\/\/doi.org\/10.3389\/fgene.2019.00574.","journal-title":"Front Genet"},{"key":"613_CR233","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1007\/978-1-4939-8994-2_4","volume":"1916","author":"AK Kraeuter","year":"2019","unstructured":"Kraeuter AK, Guest PC, Sarnyai Z. The elevated plus maze test for measuring anxiety-like behavior in rodents. Methods Mol Biol. 2019;1916:69\u201374. https:\/\/doi.org\/10.1007\/978-1-4939-8994-2_4.","journal-title":"Methods Mol Biol"},{"key":"613_CR234","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbscr.2023.100095","volume":"14","author":"JJ Maurer","year":"2023","unstructured":"Maurer JJ, Choi A, An I, Sathi N, Chung S. Sleep disturbances in autism spectrum disorder: animal models, neural mechanisms, and therapeutics. Neurobiol Sleep Circadian Rhythms. 2023;14:100095. https:\/\/doi.org\/10.1016\/j.nbscr.2023.100095.","journal-title":"Neurobiol Sleep Circadian Rhythms"},{"key":"613_CR235","doi-asserted-by":"publisher","first-page":"417","DOI":"10.3389\/fnhum.2013.00417","volume":"7","author":"A Argyropoulos","year":"2013","unstructured":"Argyropoulos A, Gilby KL, Hill-Yardin EL. Studying autism in rodent models: reconciling endophenotypes with comorbidities. Front Hum Neurosci. 2013;7:417. https:\/\/doi.org\/10.3389\/fnhum.2013.00417.","journal-title":"Front Hum Neurosci"},{"key":"613_CR236","doi-asserted-by":"publisher","unstructured":"Ornoy A, Echefu B, Becker M. Animal models of autistic-like behavior in rodents: a scoping review and call for a comprehensive scoring system. Int J Mol Sci. 2024;25(19). https:\/\/doi.org\/10.3390\/ijms251910469.","DOI":"10.3390\/ijms251910469"},{"key":"613_CR237","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.bbi.2016.09.016","volume":"59","author":"J Wu","year":"2017","unstructured":"Wu J, de Theije CGM, da Silva SL, Abbring S, van der Horst H, Broersen LM, et al. Dietary interventions that reduce mTOR activity rescue autistic-like behavioral deficits in mice. Brain Behav Immun. 2017;59:273\u201387. https:\/\/doi.org\/10.1016\/j.bbi.2016.09.016.","journal-title":"Brain Behav Immun"},{"key":"613_CR238","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2020.575575","volume":"13","author":"V Rea","year":"2020","unstructured":"Rea V, Van Raay TJ. Using Zebrafish to Model Autism Spectrum Disorder: A Comparison of ASD Risk Genes Between Zebrafish and Their Mammalian Counterparts. Front Mol Neurosci. 2020;13:575575. https:\/\/doi.org\/10.3389\/fnmol.2020.575575.","journal-title":"Front Mol Neurosci"},{"key":"613_CR239","doi-asserted-by":"publisher","unstructured":"Meshalkina DA, M NK, E VK, Collier AD, Echevarria DJ, Abreu MS, et al. Zebrafish models of autism spectrum disorder. Exp Neurol. 2018;299(Pt A):207\u201316. https:\/\/doi.org\/10.1016\/j.expneurol.2017.02.004.","DOI":"10.1016\/j.expneurol.2017.02.004"},{"key":"613_CR240","doi-asserted-by":"publisher","unstructured":"Kozol RA. Prenatal neuropathologies in autism spectrum disorder and intellectual disability: the gestation of a comprehensive zebrafish model. J Dev Biol. 2018;6(4). https:\/\/doi.org\/10.3390\/jdb6040029.","DOI":"10.3390\/jdb6040029"},{"key":"613_CR241","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.pnpbp.2013.11.014","volume":"50","author":"AM Stewart","year":"2014","unstructured":"Stewart AM, Nguyen M, Wong K, Poudel MK, Kalueff AV. Developing zebrafish models of autism spectrum disorder (ASD). Prog Neuropsychopharmacol Biol Psychiatry. 2014;50:27\u201336. https:\/\/doi.org\/10.1016\/j.pnpbp.2013.11.014.","journal-title":"Prog Neuropsychopharmacol Biol Psychiatry"},{"issue":"3","key":"613_CR242","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2023.112243","volume":"42","author":"H Weinschutz Mendes","year":"2023","unstructured":"Weinschutz Mendes H, Neelakantan U, Liu Y, Fitzpatrick SE, Chen T, Wu W, et al. High-throughput functional analysis of autism genes in zebrafish identifies convergence in dopaminergic and neuroimmune pathways. Cell Rep. 2023;42(3):112243. https:\/\/doi.org\/10.1016\/j.celrep.2023.112243.","journal-title":"Cell Rep"},{"key":"613_CR243","doi-asserted-by":"publisher","unstructured":"Vaz R, Hofmeister W, Lindstrand A. Zebrafish models of neurodevelopmental disorders: limitations and benefits of current tools and techniques. Int J Mol Sci. 2019;20(6). https:\/\/doi.org\/10.3390\/ijms20061296.","DOI":"10.3390\/ijms20061296"},{"issue":"4","key":"613_CR244","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1176\/appi.ajp.20230153","volume":"180","author":"J Veenstra-VanderWeele","year":"2023","unstructured":"Veenstra-VanderWeele J, O\u2019Reilly KC, Dennis MY, Uribe-Salazar JM, Amaral DG. Translational neuroscience approaches to understanding autism. Am J Psychiatry. 2023;180(4):265\u201376. https:\/\/doi.org\/10.1176\/appi.ajp.20230153.","journal-title":"Am J Psychiatry"},{"issue":"13","key":"613_CR245","doi-asserted-by":"publisher","first-page":"2271","DOI":"10.1093\/hmg\/ddz051","volume":"28","author":"WR Wong","year":"2019","unstructured":"Wong WR, Brugman KI, Maher S, Oh JY, Howe K, Kato M, et al. Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans. Hum Mol Genet. 2019;28(13):2271\u201381. https:\/\/doi.org\/10.1093\/hmg\/ddz051.","journal-title":"Hum Mol Genet"},{"key":"613_CR246","doi-asserted-by":"publisher","unstructured":"Rawsthorne H, Calahorro F, Holden-Dye L, V OC, Dillon J. Investigating autism associated genes in C. elegans reveals candidates with a role in social behaviour. PLoS One. 2021;16(5):e0243121. https:\/\/doi.org\/10.1371\/journal.pone.0243121.","DOI":"10.1371\/journal.pone.0243121"},{"issue":"1","key":"613_CR247","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1073\/pnas.1912049116","volume":"117","author":"TA McDiarmid","year":"2020","unstructured":"McDiarmid TA, Belmadani M, Liang J, Meili F, Mathews EA, Mullen GP, et al. Systematic phenomics analysis of autism-associated genes reveals parallel networks underlying reversible impairments in habituation. Proc Natl Acad Sci U S A. 2020;117(1):656\u201367. https:\/\/doi.org\/10.1073\/pnas.1912049116.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"5\u20136","key":"613_CR248","doi-asserted-by":"publisher","first-page":"366","DOI":"10.1242\/dmm.003442","volume":"3","author":"JW Hunter","year":"2010","unstructured":"Hunter JW, Mullen GP, McManus JR, Heatherly JM, Duke A, Rand JB. Neuroligin-deficient mutants of C. elegans have sensory processing deficits and are hypersensitive to oxidative stress and mercury toxicity. Dis Model Mech. 2010;3(5\u20136):366\u201376. https:\/\/doi.org\/10.1242\/dmm.003442.","journal-title":"Dis Model Mech"},{"issue":"Pt A","key":"613_CR249","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1016\/j.expneurol.2017.07.021","volume":"299","author":"MD Bauman","year":"2018","unstructured":"Bauman MD, Schumann CM. Advances in nonhuman primate models of autism: Integrating neuroscience and behavior. Exp Neurol. 2018;299(Pt A):252\u201365. https:\/\/doi.org\/10.1016\/j.expneurol.2017.07.021.","journal-title":"Exp Neurol"},{"issue":"5","key":"613_CR250","doi-asserted-by":"publisher","first-page":"686","DOI":"10.1002\/aur.1945","volume":"11","author":"H Zhao","year":"2018","unstructured":"Zhao H, Jiang YH, Zhang YQ. Modeling autism in non-human primates: Opportunities and challenges. Autism Res. 2018;11(5):686\u201394. https:\/\/doi.org\/10.1002\/aur.1945.","journal-title":"Autism Res"},{"issue":"10","key":"613_CR251","doi-asserted-by":"publisher","first-page":"1293","DOI":"10.1038\/cr.2017.95","volume":"27","author":"H Zhao","year":"2017","unstructured":"Zhao H, Tu Z, Xu H, Yan S, Yan H, Zheng Y, et al. Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate. Cell Res. 2017;27(10):1293\u20137. https:\/\/doi.org\/10.1038\/cr.2017.95.","journal-title":"Cell Res"},{"key":"613_CR252","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2025.149900","volume":"1866","author":"L Zhang","year":"2025","unstructured":"Zhang L, Wang JH. The utilization of non-human primates in the investigation of autism spectrum disorder. Brain Res. 2025;1866:149900. https:\/\/doi.org\/10.1016\/j.brainres.2025.149900.","journal-title":"Brain Res"},{"issue":"7","key":"613_CR253","doi-asserted-by":"publisher","first-page":"227","DOI":"10.17221\/87\/2024-VETMED","volume":"70","author":"D Chivchibashi-Pavlova","year":"2025","unstructured":"Chivchibashi-Pavlova D, Bratoeva K. Animal models of autism spectrum disorder: insights into genetic, structural and environmental models. Vet Med (Praha). 2025;70(7):227\u201341. https:\/\/doi.org\/10.17221\/87\/2024-VETMED.","journal-title":"Vet Med (Praha)"},{"key":"613_CR254","doi-asserted-by":"publisher","DOI":"10.3389\/fnbeh.2021.673372","volume":"15","author":"S Feng","year":"2021","unstructured":"Feng S, Huang H, Wang N, Wei Y, Liu Y, Qin D. Sleep disorders in children with autism spectrum disorder: insights from animal models, especially non-human primate model. Front Behav Neurosci. 2021;15:673372. https:\/\/doi.org\/10.3389\/fnbeh.2021.673372.","journal-title":"Front Behav Neurosci"},{"issue":"2","key":"613_CR255","doi-asserted-by":"publisher","first-page":"126","DOI":"10.5152\/TurkArchPediatr.2025.24183","volume":"60","author":"P Solek","year":"2025","unstructured":"Solek P, Nurfitri E, Sahril I, Prasetya T, Rizqiamuti AF, Burhan B, et al. The Role of Artificial Intelligence for Early Diagnostic Tools of Autism Spectrum Disorder: A Systematic Review. Turk Arch Pediatr. 2025;60(2):126\u201340. https:\/\/doi.org\/10.5152\/TurkArchPediatr.2025.24183.","journal-title":"Turk Arch Pediatr"},{"issue":"7","key":"613_CR256","doi-asserted-by":"publisher","first-page":"1611","DOI":"10.1038\/s41588-025-02224-z","volume":"57","author":"A Litman","year":"2025","unstructured":"Litman A, Sauerwald N, Green Snyder L, Foss-Feig J, Park CY, Hao Y, et al. Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs. Nat Genet. 2025;57(7):1611\u20139. https:\/\/doi.org\/10.1038\/s41588-025-02224-z.","journal-title":"Nat Genet"},{"issue":"3","key":"613_CR257","doi-asserted-by":"publisher","DOI":"10.1002\/mco2.497","volume":"5","author":"H Zhuang","year":"2020","unstructured":"Zhuang H, Liang Z, Ma G, Qureshi A, Ran X, Feng C, et al. Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy. MedComm. 2020;5(3):e497. https:\/\/doi.org\/10.1002\/mco2.497.","journal-title":"MedComm"},{"issue":"1","key":"613_CR258","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/s11011-023-01322-3","volume":"39","author":"LD Nahas","year":"2024","unstructured":"Nahas LD, Datta A, Alsamman AM, Adly MH, Al-Dewik N, Sekaran K, et al. Genomic insights and advanced machine learning: characterizing autism spectrum disorder biomarkers and genetic interactions. Metab Brain Dis. 2024;39(1):29\u201342. https:\/\/doi.org\/10.1007\/s11011-023-01322-3.","journal-title":"Metab Brain Dis"},{"key":"613_CR259","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.ridd.2019.04.006","volume":"90","author":"AMH Siu","year":"2019","unstructured":"Siu AMH, Lin Z, Chung J. An evaluation of the TEACCH approach for teaching functional skills to adults with autism spectrum disorders and intellectual disabilities. Res Dev Disabil. 2019;90:14\u201321. https:\/\/doi.org\/10.1016\/j.ridd.2019.04.006.","journal-title":"Res Dev Disabil"},{"key":"613_CR260","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/j.pharmthera.2018.05.007","volume":"190","author":"SR Sharma","year":"2018","unstructured":"Sharma SR, Gonda X, Tarazi FI. Autism spectrum disorder: classification, diagnosis and therapy. Pharmacol Ther. 2018;190:91\u2013104. https:\/\/doi.org\/10.1016\/j.pharmthera.2018.05.007.","journal-title":"Pharmacol Ther"},{"issue":"8","key":"613_CR261","doi-asserted-by":"publisher","first-page":"2411","DOI":"10.1007\/s10803-015-2407-8","volume":"45","author":"L Schreibman","year":"2015","unstructured":"Schreibman L, Dawson G, Stahmer AC, Landa R, Rogers SJ, McGee GG, et al. Naturalistic developmental behavioral interventions: empirically validated treatments for autism spectrum disorder. J Autism Dev Disord. 2015;45(8):2411\u201328. https:\/\/doi.org\/10.1007\/s10803-015-2407-8.","journal-title":"J Autism Dev Disord"},{"issue":"4","key":"613_CR262","doi-asserted-by":"publisher","first-page":"1997","DOI":"10.1007\/s12035-022-03202-w","volume":"60","author":"NA Meguid","year":"2023","unstructured":"Meguid NA, Hashem HS, Ghanem MH, Helal SA, Semenova Y, Hashem S, et al. Evaluation of branched-chain amino acids in children with autism spectrum disorder and epilepsy. Mol Neurobiol. 2023;60(4):1997\u20132004. https:\/\/doi.org\/10.1007\/s12035-022-03202-w.","journal-title":"Mol Neurobiol"},{"key":"613_CR263","doi-asserted-by":"publisher","first-page":"1629","DOI":"10.2147\/NDT.S371013","volume":"18","author":"J Maniram","year":"2022","unstructured":"Maniram J, Karrim SBS, Oosthuizen F, Wiafe E. Pharmacological Management of Core Symptoms and Comorbidities of Autism Spectrum Disorder in Children and Adolescents: A Systematic Review. Neuropsychiatr Dis Treat. 2022;18:1629\u201344. https:\/\/doi.org\/10.2147\/NDT.S371013.","journal-title":"Neuropsychiatr Dis Treat"},{"issue":"1","key":"613_CR264","doi-asserted-by":"publisher","first-page":"138","DOI":"10.1007\/s10803-018-3689-4","volume":"49","author":"C de Giambattista","year":"2019","unstructured":"de Giambattista C, Ventura P, Trerotoli P, Margari M, Palumbi R, Margari L. Subtyping the Autism Spectrum Disorder: Comparison of Children with High Functioning Autism and Asperger Syndrome. J Autism Dev Disord. 2019;49(1):138\u201350. https:\/\/doi.org\/10.1007\/s10803-018-3689-4.","journal-title":"J Autism Dev Disord"},{"issue":"4","key":"613_CR265","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1016\/j.pediatrneurol.2012.05.007","volume":"47","author":"S Kotagal","year":"2012","unstructured":"Kotagal S, Broomall E. Sleep in children with autism spectrum disorder. Pediatr Neurol. 2012;47(4):242\u201351. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2012.05.007.","journal-title":"Pediatr Neurol"},{"issue":"3","key":"613_CR266","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1177\/13623613241285974","volume":"29","author":"M McKinlay","year":"2025","unstructured":"McKinlay M, Thorpe D, Cage E, Grainger C, Jasper C, Stewart M. A systematic review: which psycho-social-environmental factors do autistic students identify as being important for positive experiences in mainstream secondary school? Autism. 2025;29(3):566\u201378. https:\/\/doi.org\/10.1177\/13623613241285974.","journal-title":"Autism"},{"key":"613_CR267","doi-asserted-by":"publisher","first-page":"1193166","DOI":"10.3389\/fpsyt.2023.1193166","volume":"14","author":"ML Scattoni","year":"2023","unstructured":"Scattoni ML, Shih A, Schendel D. Editorial: Pathway of care and gaps in services for children and adults with autism spectrum disorder. Front Psychiatry. 2023;14:1193166. https:\/\/doi.org\/10.3389\/fpsyt.2023.1193166.","journal-title":"Front Psychiatry"},{"issue":"10321","key":"613_CR268","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/S0140-6736(21)01541-5","volume":"399","author":"C Lord","year":"2022","unstructured":"Lord C, Charman T, Havdahl A, Carbone P, Anagnostou E, Boyd B, et al. The Lancet commission on the future of care and clinical research in autism. Lancet. 2022;399(10321):271\u2013334. https:\/\/doi.org\/10.1016\/S0140-6736(21)01541-5.","journal-title":"Lancet"},{"issue":"10","key":"613_CR269","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1007\/s11920-021-01278-0","volume":"23","author":"BB Maddox","year":"2021","unstructured":"Maddox BB, Dickson KS, Stadnick NA, Mandell DS, Brookman-Frazee L. Mental health services for autistic individuals across the lifespan: recent advances and current gaps. Curr Psychiatry Rep. 2021;23(10):66. https:\/\/doi.org\/10.1007\/s11920-021-01278-0.","journal-title":"Curr Psychiatry Rep"},{"issue":"8","key":"613_CR270","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1002\/aur.1786","volume":"10","author":"JKY Lai","year":"2017","unstructured":"Lai JKY, Weiss JA. Priority service needs and receipt across the lifespan for individuals with autism spectrum disorder. Autism Res. 2017;10(8):1436\u201347. https:\/\/doi.org\/10.1002\/aur.1786.","journal-title":"Autism Res"},{"issue":"2","key":"613_CR271","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1007\/s00330-021-08371-1","volume":"32","author":"JS Tang","year":"2022","unstructured":"Tang JS. Editorial comment on \u201cDiagnosing autism spectrum disorder in children using conventional MRI and apparent diffusion coefficient based deep learning algorithms.\u201d Eur Radiol. 2022;32(2):759\u201360. https:\/\/doi.org\/10.1007\/s00330-021-08371-1.","journal-title":"Eur Radiol"},{"issue":"11","key":"613_CR272","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000019484","volume":"99","author":"W Cheng","year":"2020","unstructured":"Cheng W, Zhou S, Zhou J, Wang X. Identification of a robust non-coding RNA signature in diagnosing autism spectrum disorder by cross-validation of microarray data from peripheral blood samples. Medicine (Baltimore). 2020;99(11):e19484. https:\/\/doi.org\/10.1097\/MD.0000000000019484.","journal-title":"Medicine (Baltimore)"},{"issue":"4","key":"613_CR273","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1089\/omi.2015.0020","volume":"19","author":"R Higdon","year":"2015","unstructured":"Higdon R, Earl RK, Stanberry L, Hudac CM, Montague E, Stewart E, et al. The promise of multi-omics and clinical data integration to identify and target personalized healthcare approaches in autism spectrum disorders. OMICS. 2015;19(4):197\u2013208. https:\/\/doi.org\/10.1089\/omi.2015.0020.","journal-title":"OMICS"},{"key":"613_CR274","doi-asserted-by":"publisher","first-page":"1628216","DOI":"10.3389\/fpsyt.2025.1628216","volume":"16","author":"JS Sohn","year":"2025","unstructured":"Sohn JS, Lee E, Kim JJ, Oh HK, Kim E. Implementation of generative AI for the assessment and treatment of autism spectrum disorders: a scoping review. Front Psychiatry. 2025;16:1628216. https:\/\/doi.org\/10.3389\/fpsyt.2025.1628216.","journal-title":"Front Psychiatry"}],"container-title":["Molecular Biomedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s43556-026-00613-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s43556-026-00613-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s43556-026-00613-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T21:02:33Z","timestamp":1792530153000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s43556-026-00613-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,20]]},"references-count":274,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["613"],"URL":"https:\/\/doi.org\/10.1186\/s43556-026-00613-2","relation":{},"ISSN":["2662-8651"],"issn-type":[{"value":"2662-8651","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,20]]},"assertion":[{"value":"28 November 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 September 2026","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 September 2026","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 October 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"218"}}