{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T08:33:36Z","timestamp":1792139616941,"version":"4.4.0"},"reference-count":146,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2023,11,26]],"date-time":"2023-11-26T00:00:00Z","timestamp":1700956800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Autism spectrum disorder (ASD) is a neurodevelopmental condition with symptoms that affect the whole personality and all aspects of life. Although there is a high degree of heterogeneity in both its etiology and its characteristic behavioral patterns, the disorder is well-captured along the autistic triad. Currently, ASD status can be confirmed following an assessment of behavioral features, but there is a growing emphasis on conceptualizing autism as a spectrum, which allows for establishing a diagnosis based on the level of support need, free of discrete categories. Since ASD has a high genetic predominance, the number of genetic variations identified in the background of the condition is increasing exponentially as genetic testing methods are rapidly evolving. However, due to the huge amount of data to be analyzed, grouping the different DNA variations is still challenging. Therefore, in the present review, a multidimensional classification scheme was developed to accommodate most of the currently known genetic variants associated with autism. Genetic variations have been grouped according to six criteria (extent, time of onset, information content, frequency, number of genes involved, inheritance pattern), which are themselves not discrete categories, but form a coherent continuum in line with the autism spectrum approach.<\/jats:p>","DOI":"10.3390\/ijms242316768","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T03:32:03Z","timestamp":1701055923000},"page":"16768","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Diversity and Classification of Genetic Variations in Autism Spectrum Disorder"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4778-3332","authenticated-orcid":false,"given":"\u00c9va","family":"Kereszturi","sequence":"first","affiliation":[{"name":"Department of Molecular Biology, Semmelweis University, H-1085 Budapest, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/526029a","article-title":"Human Genome Project: Twenty-five years of big biology","volume":"526","author":"Green","year":"2015","journal-title":"Nature"},{"key":"ref_2","first-page":"217","article-title":"Autistic Disturbance of Affective Contact","volume":"2","author":"Kanner","year":"1943","journal-title":"Nerv. Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1007\/BF01837709","article-title":"Die \u2018Autistischen Psychopathen\u2019 im Kindesalter","volume":"117","author":"Asperger","year":"1944","journal-title":"Arch. F\u00fcr Psychiatr. Und Nervenkrankh."},{"key":"ref_4","unstructured":"(2023, January 19). Eg\u00e9szs\u00e9g\u00fcgyi Szakmai Ir\u00e1nyelv\u2014Az Autizmusr\u00f3l\/Autizmus Spektrum Zavarokr\u00f3l. Emberi Er\u0151forr\u00e1sok Miniszt\u00e9riuma\u2014Eg\u00e9szs\u00e9g\u00fcgy\u00e9rt Felel\u0151s \u00c1llamtitk\u00e1rs\u00e1g. Available online: https:\/\/kollegium.aeek.hu\/Iranyelvek\/Index."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1326","DOI":"10.1007\/s10803-011-1360-4","article-title":"Autism spectrum disorder: Does neuroimaging support the DSM-5 proposal for a symptom dyad? A systematic review of functional magnetic resonance imaging and diffusion tensor imaging studies","volume":"42","author":"Villero","year":"2012","journal-title":"J. Autism Dev. Disord."},{"key":"ref_6","unstructured":"Monika, B.J.M. (2015). A Gyermek- \u00e9s Ifj\u00fakor Pszich\u00e9s Zavarainak Tank\u00f6nyve, Semmelweis Kiad\u00f3."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3178","DOI":"10.1038\/s41380-020-0748-y","article-title":"Autism spectrum heterogeneity: Fact or artifact?","volume":"25","author":"Mottron","year":"2020","journal-title":"Mol. Psychiatry"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/aur.239","article-title":"Global prevalence of autism and other pervasive developmental disorders","volume":"5","author":"Elsabbagh","year":"2012","journal-title":"Autism Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1002\/aur.2696","article-title":"Global prevalence of autism: A systematic review update","volume":"15","author":"Zeidan","year":"2022","journal-title":"Autism Res."},{"key":"ref_10","first-page":"1","article-title":"Prevalence of autism spectrum disorder among children aged 8 years\u2014Autism and developmental disabilities monitoring network, 11 sites, United States, 2010","volume":"63","author":"Baio","year":"2014","journal-title":"MMWR Surveill. Summ."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss6503a1","article-title":"Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years--Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012","volume":"65","author":"Christensen","year":"2016","journal-title":"MMWR Surveill. Summ."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss6706a1","article-title":"Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years\u2014Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014","volume":"67","author":"Baio","year":"2018","journal-title":"MMWR Surveill. Summ."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss6904a1","article-title":"Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years\u2014Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016","volume":"69","author":"Maenner","year":"2020","journal-title":"MMWR Surveill. Summ."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss7011a1","article-title":"Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years\u2014Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018","volume":"70","author":"Maenner","year":"2021","journal-title":"MMWR Surveill. Summ."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss7202a1","article-title":"Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years\u2014Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020","volume":"72","author":"Maenner","year":"2023","journal-title":"MMWR Surveill. Summ."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1007\/s10803-019-04328-y","article-title":"Prevalence of Autism Spectrum Disorder in 7-9-Year-Old Children in Denmark, Finland, France and Iceland: A Population-Based Registries Approach Within the ASDEU Project","volume":"50","author":"Saemundsen","year":"2020","journal-title":"J. Autism Dev. Disord."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"717","DOI":"10.7150\/ijbs.24063","article-title":"The prevalence of autism spectrum disorders in China: A comprehensive meta-analysis","volume":"14","author":"Wang","year":"2018","journal-title":"Int. J. Biol. Sci."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Chiarotti, F., and Venerosi, A. (2020). Epidemiology of Autism Spectrum Disorders: A Review of Worldwide Prevalence Estimates Since 2014. Brain Sci., 10.","DOI":"10.3390\/brainsci10050274"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1017\/S003329171400172X","article-title":"The epidemiology and global burden of autism spectrum disorders","volume":"45","author":"Baxter","year":"2015","journal-title":"Psychol. Med."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1146\/annurev-publhealth-031816-044318","article-title":"The Changing Epidemiology of Autism Spectrum Disorders","volume":"38","author":"Lyall","year":"2017","journal-title":"Annu. Rev. Public Health"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.jaac.2017.03.013","article-title":"What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis","volume":"56","author":"Loomes","year":"2017","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1001\/jama.289.1.49","article-title":"Prevalence of autism in a US metropolitan area","volume":"289","author":"Rice","year":"2003","journal-title":"JAMA"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1108110","DOI":"10.3389\/fpsyt.2023.1108110","article-title":"Camouflage and masking behavior in adult autism","volume":"14","author":"Motamed","year":"2023","journal-title":"Front. Psychiatry"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1097\/YCO.0000000000000575","article-title":"Sex and gender impacts on the behavioural presentation and recognition of autism","volume":"33","author":"Lai","year":"2020","journal-title":"Curr. Opin. Psychiatry"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1177\/1362361316671012","article-title":"Quantifying and exploring camouflaging in men and women with autism","volume":"21","author":"Lai","year":"2017","journal-title":"Autism"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1177\/1362361316671845","article-title":"The art of camouflage: Gender differences in the social behaviors of girls and boys with autism spectrum disorder","volume":"21","author":"Dean","year":"2017","journal-title":"Autism"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"737","DOI":"10.12740\/PP\/OnlineFirst\/95098","article-title":"Girls and women with autism","volume":"53","author":"Rynkiewicz","year":"2019","journal-title":"Psychiatr. Pol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1002\/aur.2859","article-title":"The relationship between camouflaging and mental health in autistic children and adolescents","volume":"16","author":"Ross","year":"2023","journal-title":"Autism Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1177\/13623613221098240","article-title":"Sex differences in predictors and outcomes of camouflaging: Comparing diagnosed autistic, high autistic trait and low autistic trait young adults","volume":"27","author":"Milner","year":"2023","journal-title":"Autism"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"e488","DOI":"10.1542\/peds.2010-2825","article-title":"Recurrence risk for autism spectrum disorders: A Baby Siblings Research Consortium study","volume":"128","author":"Ozonoff","year":"2011","journal-title":"Pediatrics"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1001\/jamapediatrics.2017.2832","article-title":"Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings","volume":"171","author":"Palmer","year":"2017","journal-title":"JAMA Pediatr."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"13217","DOI":"10.3390\/ijms160613217","article-title":"Broader Autism Phenotype in Siblings of Children with ASD\u2014A Review","volume":"16","author":"Pisula","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/j.jaac.2018.11.017","article-title":"Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study","volume":"58","author":"Hansen","year":"2019","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1001\/jama.2017.12141","article-title":"The Heritability of Autism Spectrum Disorder","volume":"318","author":"Sandin","year":"2017","journal-title":"JAMA"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/978-3-030-30402-7_2","article-title":"New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder","volume":"24","author":"Alsharshani","year":"2020","journal-title":"Adv. Neurobiol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.ghir.2017.12.003","article-title":"Genetic short stature","volume":"38","author":"Grunauer","year":"2018","journal-title":"Growth Horm. IGF Res."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1007\/s11920-020-1141-x","article-title":"Genetics of ADHD: What Should the Clinician Know?","volume":"22","author":"Grimm","year":"2020","journal-title":"Curr. Psychiatry Rep."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0140-6736(13)61539-1","article-title":"Autism","volume":"383","author":"Lai","year":"2014","journal-title":"Lancet"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s13229-017-0121-4","article-title":"Environmental risk factors for autism: An evidence-based review of systematic reviews and meta-analyses","volume":"8","author":"Modabbernia","year":"2017","journal-title":"Mol. Autism"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1007\/s00018-018-2988-4","article-title":"The contribution of environmental exposure to the etiology of autism spectrum disorder","volume":"76","author":"Girdler","year":"2019","journal-title":"Cell Mol. Life Sci."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/S2215-0366(19)30181-6","article-title":"Environmental risk factors and biomarkers for autism spectrum disorder: An umbrella review of the evidence","volume":"6","author":"Kim","year":"2019","journal-title":"Lancet Psychiatry"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"104863","DOI":"10.1016\/j.earlhumdev.2019.104863","article-title":"Potential explanations of behavioural and other differences and similarities between males and females with autism spectrum disorder","volume":"140","author":"James","year":"2020","journal-title":"Early Hum. Dev."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1542\/peds.2010-1036","article-title":"Perinatal and neonatal risk factors for autism: A comprehensive meta-analysis","volume":"128","author":"Gardener","year":"2011","journal-title":"Pediatrics"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"3043","DOI":"10.1038\/s41467-019-11039-6","article-title":"Paternal-age-related de novo mutations and risk for five disorders","volume":"10","author":"Taylor","year":"2019","journal-title":"Nat. Commun."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e6696","DOI":"10.1097\/MD.0000000000006696","article-title":"Prenatal, perinatal, and postnatal factors associated with autism: A meta-analysis","volume":"96","author":"Wang","year":"2017","journal-title":"Medicine"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1007\/s00702-020-02188-w","article-title":"Genetic and environmental factors of schizophrenia and autism spectrum disorder: Insights from twin studies","volume":"127","author":"Imamura","year":"2020","journal-title":"J. Neural Transm."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1111\/jcpp.12499","article-title":"Heritability of autism spectrum disorders: A meta-analysis of twin studies","volume":"57","author":"Tick","year":"2016","journal-title":"J. Child Psychol. Psychiatry"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1001\/archgenpsychiatry.2011.76","article-title":"Genetic heritability and shared environmental factors among twin pairs with autism","volume":"68","author":"Hallmayer","year":"2011","journal-title":"Arch. Gen. Psychiatry"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1001\/jamapsychiatry.2014.3028","article-title":"Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample","volume":"72","author":"Colvert","year":"2015","journal-title":"JAMA Psychiatry"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1001\/archpediatrics.2009.98","article-title":"Characteristics and concordance of autism spectrum disorders among 277 twin pairs","volume":"163","author":"Rosenberg","year":"2009","journal-title":"Arch. Pediatr. Adolesc. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1177\/0883073815580645","article-title":"The Relationship Among Genetic Heritability, Environmental Effects, and Autism Spectrum Disorders: 37 Pairs of Ascertained Twin Study","volume":"30","author":"Deng","year":"2015","journal-title":"J. Child Neurol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1001\/jamapediatrics.2018.4076","article-title":"Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit\/Hyperactivity Disorder and Autism Spectrum Disorder","volume":"173","author":"Miller","year":"2019","journal-title":"JAMA Pediatr."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1002\/aur.1414","article-title":"Evidence for ASD recurrence rates and reproductive stoppage from large UK ASD research family databases","volume":"8","author":"Wood","year":"2015","journal-title":"Autism Res."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-3-030-30402-7_1","article-title":"Overview and Introduction to Autism Spectrum Disorder (ASD)","volume":"24","author":"Styles","year":"2020","journal-title":"Adv. Neurobiol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/ajmg.b.32542","article-title":"Imaging genetics in neurodevelopmental psychopathology","volume":"174","author":"Klein","year":"2017","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1111\/epi.13381","article-title":"Primer Part 1-The building blocks of epilepsy genetics","volume":"57","author":"Helbig","year":"2016","journal-title":"Epilepsia"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.jpsychires.2013.10.001","article-title":"Klinefelter syndrome and risk of psychosis, autism and ADHD","volume":"48","author":"Larsson","year":"2014","journal-title":"J. Psychiatr. Res."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1111\/dmcn.13217","article-title":"Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: A population-based study","volume":"59","author":"Oxelgren","year":"2017","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_59","unstructured":"Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (1993). GeneReviews, University of Washington."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.schres.2012.10.010","article-title":"Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion","volume":"143","author":"Vorstman","year":"2013","journal-title":"Schizophr. Res."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.schres.2017.01.032","article-title":"Autism Spectrum and psychosis risk in the 22q11.2 deletion syndrome. Findings from a prospective longitudinal study","volume":"188","author":"Fiksinski","year":"2017","journal-title":"Schizophr. Res."},{"key":"ref_62","first-page":"211","article-title":"Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome","volume":"6","author":"Jalbrzikowski","year":"2021","journal-title":"Biol. Psychiatry Cogn. Neurosci. Neuroimaging"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1007\/s10803-017-3439-z","article-title":"Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome","volume":"48","author":"Mervis","year":"2018","journal-title":"J. Autism Dev. Disord."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/S2215-0366(15)00376-4","article-title":"Prevalence of autism spectrum disorder phenomenology in genetic disorders: A systematic review and meta-analysis","volume":"2","author":"Richards","year":"2015","journal-title":"Lancet Psychiatry"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1177\/08830738040190090701","article-title":"Autism and tuberous sclerosis","volume":"19","author":"Wiznitzer","year":"2004","journal-title":"J. Child Neurol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1177\/0883073807309788","article-title":"Characterization of autism in young children with tuberous sclerosis complex","volume":"23","author":"Jeste","year":"2008","journal-title":"J. Child Neurol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"355","DOI":"10.3389\/fgene.2014.00355","article-title":"The fragile X syndrome-autism comorbidity: What do we really know?","volume":"5","author":"Abbeduto","year":"2014","journal-title":"Front. Genet."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1007\/s10803-014-2321-5","article-title":"Autism spectrum disorder profile in neurofibromatosis type I","volume":"45","author":"Garg","year":"2015","journal-title":"J. Autism Dev. Disord."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Robert, C., Pasquier, L., Cohen, D., Fradin, M., Canitano, R., Damaj, L., Odent, S., and Tordjman, S. (2017). Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18030618"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1146\/annurev-genom-121219-082309","article-title":"Recent Advances in Understanding the Genetic Architecture of Autism","volume":"21","author":"Dias","year":"2020","journal-title":"Annu. Rev. Genom. Hum. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"353","DOI":"10.31887\/DCNS.2017.19.4\/sscherer","article-title":"Syndromic autism spectrum disorders: Moving from a clinically defined to a molecularly defined approach","volume":"19","author":"Fernandez","year":"2017","journal-title":"Dialogues Clin. Neurosci."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1097\/YCO.0000000000000471","article-title":"A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY)","volume":"32","year":"2019","journal-title":"Curr. Opin. Psychiatry"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1016\/j.ridd.2012.02.013","article-title":"Social deficits in male children and adolescents with sex chromosome aneuploidy: A comparison of XXY, XYY, and XXYY syndromes","volume":"33","author":"Cordeiro","year":"2012","journal-title":"Res. Dev. Disabil."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1007\/s10803-013-1860-5","article-title":"The social behavioral phenotype in boys and girls with an extra X chromosome (Klinefelter syndrome and Trisomy X): A comparison with autism spectrum disorder","volume":"44","author":"Stockmann","year":"2014","journal-title":"J. Autism Dev. Disord."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1097\/DBP.0000000000000429","article-title":"Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY\/Klinefelter Syndrome, XYY, and XXYY","volume":"38","author":"Tartaglia","year":"2017","journal-title":"J. Dev. Behav. Pediatr."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"2870","DOI":"10.1002\/ajmg.a.37688","article-title":"Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis","volume":"170","author":"Wigby","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/j.jpeds.2013.05.037","article-title":"47,XYY syndrome: Clinical phenotype and timing of ascertainment","volume":"163","author":"Bardsley","year":"2013","journal-title":"J. Pediatr."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1542\/peds.2011-0719","article-title":"Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome","volume":"129","author":"Ross","year":"2012","journal-title":"Pediatrics"},{"key":"ref_79","first-page":"601","article-title":"Empathy, autistic traits, and motor resonance in adults with Turner syndrome","volume":"9","author":"Lepage","year":"2014","journal-title":"Soc. Neurosci."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/ajmg.c.31448","article-title":"Jacobsen syndrome: Advances in our knowledge of phenotype and genotype","volume":"169","author":"Favier","year":"2015","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1352\/0895-8017(2008)113[278:POASPI]2.0.CO;2","article-title":"Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes","volume":"113","author":"Moss","year":"2008","journal-title":"Am. J. Ment. Retard."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1136\/jmg.34.9.719","article-title":"Translocations involving 4p16.3 in three families: Deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome","volume":"34","author":"Partington","year":"1997","journal-title":"J. Med. Genet."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1002\/ajmg.a.38171","article-title":"De novo unbalanced translocation (4p duplication\/8p deletion) in a patient with autism, OCD, and overgrowth syndrome","volume":"173","author":"Sagar","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1007\/s13311-015-0352-z","article-title":"Phelan-McDermid Syndrome and SHANK3: Implications for Treatment","volume":"12","author":"Costales","year":"2015","journal-title":"Neurotherapeutics"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"2936","DOI":"10.1002\/ajmg.a.37286","article-title":"Autism spectrum disorder in Prader-Willi syndrome: A systematic review","volume":"167a","author":"Bennett","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1002\/1096-8628(20000612)96:3<432::AID-AJMG39>3.0.CO;2-T","article-title":"Autistic symptoms in isodicentric 15 syndrome: Response to Wolpert et al","volume":"96","author":"Simon","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1159\/000490838","article-title":"Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue","volume":"156","author":"Bramswig","year":"2018","journal-title":"Cytogenet. Genome Res."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"e198","DOI":"10.3928\/19382359-20180419-01","article-title":"An Update on Common Chromosome Microdeletion and Microduplication Syndromes","volume":"47","author":"Goldenberg","year":"2018","journal-title":"Pediatr. Ann."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/nrg3871","article-title":"A copy number variation map of the human genome","volume":"16","author":"Zarrei","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.crvi.2016.05.004","article-title":"Current knowledge on the genetics of autism and propositions for future research","volume":"339","author":"Bourgeron","year":"2016","journal-title":"Comptes Rendus Biol."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/j.jaac.2013.05.013","article-title":"Copy number variation: What is it and what has it told us about child psychiatric disorders?","volume":"52","author":"Thapar","year":"2013","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ajhg.2007.12.009","article-title":"Structural variation of chromosomes in autism spectrum disorder","volume":"82","author":"Marshall","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/j.pnpbp.2019.02.012","article-title":"Copy number variants in autism spectrum disorders","volume":"92","author":"Vicari","year":"2019","journal-title":"Prog. Neuropsychopharmacol. Biol. Psychiatry"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/cge.12101","article-title":"Autism spectrum disorder in the genetics clinic: A review","volume":"83","author":"Carter","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.ajhg.2012.05.011","article-title":"Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders","volume":"91","author":"Luo","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1111\/dmcn.13717","article-title":"Progress in the genetics of autism spectrum disorder","volume":"60","author":"Scherer","year":"2018","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.conb.2012.12.006","article-title":"The social phenotype of Williams syndrome","volume":"23","author":"Korenberg","year":"2013","journal-title":"Curr. Opin. Neurobiol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1016\/j.neuron.2011.05.002","article-title":"Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism","volume":"70","author":"Sanders","year":"2011","journal-title":"Neuron"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1056\/NEJMoa051962","article-title":"Severe expressive-language delay related to duplication of the Williams-Beuren locus","volume":"353","author":"Somerville","year":"2005","journal-title":"N. Engl. J. Med."},{"key":"ref_100","first-page":"321","article-title":"What does Williams syndrome reveal about the determinants of social behavior?","volume":"7","author":"Bellugi","year":"2013","journal-title":"Front. Hum. Neurosci."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1038\/nature08727","article-title":"A new highly penetrant form of obesity due to deletions on chromosome 16p11.2","volume":"463","author":"Walters","year":"2010","journal-title":"Nature"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1001\/jamapsychiatry.2015.2123","article-title":"Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities","volume":"73","author":"Lebon","year":"2016","journal-title":"JAMA Psychiatry"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"2678","DOI":"10.1016\/j.celrep.2017.11.037","article-title":"Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder","volume":"21","author":"Deshpande","year":"2017","journal-title":"Cell Rep."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","article-title":"Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism","volume":"180","author":"Satterstrom","year":"2020","journal-title":"Cell"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/s41576-020-0231-2","article-title":"A framework for an evidence-based gene list relevant to autism spectrum disorder","volume":"21","author":"Schaaf","year":"2020","journal-title":"Nat. Rev. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nature13772","article-title":"Synaptic, transcriptional and chromatin genes disrupted in autism","volume":"515","author":"He","year":"2014","journal-title":"Nature"},{"key":"ref_107","doi-asserted-by":"crossref","unstructured":"Leblond, C.S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., and Mouzat, K. (2014). Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A gradient of severity in cognitive impairments. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004580"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/nrn.2016.183","article-title":"SHANK proteins: Roles at the synapse and in autism spectrum disorder","volume":"18","author":"Monteiro","year":"2017","journal-title":"Nat. Rev. Neurosci."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ng1136","article-title":"Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism","volume":"34","author":"Jamain","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1002\/humu.23836","article-title":"Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment","volume":"40","author":"Quartier","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Freed, D., and Pevsner, J. (2016). The Contribution of Mosaic Variants to Autism Spectrum Disorder. PLoS Genet., 12.","DOI":"10.1371\/journal.pgen.1006245"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1038\/nn.4598","article-title":"Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder","volume":"20","author":"Lim","year":"2017","journal-title":"Nat. Neurosci."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1126\/science.1138659","article-title":"Strong association of de novo copy number mutations with autism","volume":"316","author":"Sebat","year":"2007","journal-title":"Science"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/ng.3303","article-title":"Excess of rare, inherited truncating mutations in autism","volume":"47","author":"Krumm","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.neuron.2013.01.010","article-title":"Rare inherited variation in autism: Beginning to see the forest and a few trees","volume":"77","author":"Stein","year":"2013","journal-title":"Neuron"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1176\/ajp.142.2.187","article-title":"Evidence for autosomal recessive inheritance in 46 families with multiple incidences of autism","volume":"142","author":"Ritvo","year":"1985","journal-title":"Am. J. Psychiatry"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1126\/science.1157657","article-title":"Identifying autism loci and genes by tracing recent shared ancestry","volume":"321","author":"Morrow","year":"2008","journal-title":"Science"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.neuron.2012.12.029","article-title":"Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders","volume":"77","author":"Lim","year":"2013","journal-title":"Neuron"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"1204","DOI":"10.1016\/j.ajhg.2018.05.002","article-title":"Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum","volume":"102","author":"Ganna","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1254806","DOI":"10.1126\/science.1254806","article-title":"RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease","volume":"347","author":"Xiong","year":"2015","journal-title":"Science"},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1038\/s41380-018-0049-x","article-title":"An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder","volume":"24","author":"Williams","year":"2019","journal-title":"Mol. Psychiatry"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/aur.1475","article-title":"Meta-Analysis of Gene Expression in Autism Spectrum Disorder","volume":"8","author":"Kwok","year":"2015","journal-title":"Autism Res."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/aur.73","article-title":"Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: Evidence for circadian rhythm dysfunction in severe autism","volume":"2","author":"Hu","year":"2009","journal-title":"Autism Res."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.bbrc.2014.08.108","article-title":"Genomic and genetic aspects of autism spectrum disorder","volume":"452","author":"Liu","year":"2014","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"2146","DOI":"10.4238\/2015.March.27.1","article-title":"Meta-analysis of differentially expressed genes in autism based on gene expression data","volume":"14","author":"Ning","year":"2015","journal-title":"Genet. Mol. Res."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/2040-2392-4-23","article-title":"Increased gene expression of FOXP1 in patients with autism spectrum disorders","volume":"4","author":"Chien","year":"2013","journal-title":"Mol. Autism"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"5748","DOI":"10.1038\/ncomms6748","article-title":"Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism","volume":"5","author":"Gupta","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_128","doi-asserted-by":"crossref","unstructured":"Wu, X., Li, W., and Zheng, Y. (2020). Recent Progress on Relevant microRNAs in Autism Spectrum Disorders. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21165904"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s12031-021-01934-3","article-title":"Emerging Role of Non-coding RNAs in Autism Spectrum Disorder","volume":"72","author":"Noroozi","year":"2022","journal-title":"J. Mol. Neurosci."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.tins.2018.11.002","article-title":"The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders","volume":"42","author":"Turner","year":"2019","journal-title":"Trends Neurosci."},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1038\/nature09146","article-title":"Functional impact of global rare copy number variation in autism spectrum disorders","volume":"466","author":"Pinto","year":"2010","journal-title":"Nature"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.ajhg.2014.03.018","article-title":"Convergence of genes and cellular pathways dysregulated in autism spectrum disorders","volume":"94","author":"Pinto","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1038\/ng.3039","article-title":"Most genetic risk for autism resides with common variation","volume":"46","author":"Gaugler","year":"2014","journal-title":"Nat. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/2040-2392-3-9","article-title":"Common genetic variants, acting additively, are a major source of risk for autism","volume":"3","author":"Klei","year":"2012","journal-title":"Mol. Autism"},{"key":"ref_135","doi-asserted-by":"crossref","unstructured":"Weuring, W., Geerligs, J., and Koeleman, B.P.C. (2021). Gene Therapies for Monogenic Autism Spectrum Disorders. Genes., 12.","DOI":"10.3390\/genes12111667"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/s41588-022-01064-5","article-title":"A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex","volume":"54","author":"Antaki","year":"2022","journal-title":"Nat. Genet."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"16035","DOI":"10.1038\/nrdp.2016.35","article-title":"Tuberous sclerosis complex","volume":"2","author":"Henske","year":"2016","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/s11689-016-9145-x","article-title":"Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: An update","volume":"8","author":"Thurm","year":"2016","journal-title":"J. Neurodev. Disord."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"17065","DOI":"10.1038\/nrdp.2017.65","article-title":"Fragile X syndrome","volume":"3","author":"Hagerman","year":"2017","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_140","doi-asserted-by":"crossref","unstructured":"Kyle, S.M., Vashi, N., and Justice, M.J. (2018). Rett syndrome: A neurological disorder with metabolic components. Open Biol., 8.","DOI":"10.1098\/rsob.170216"},{"key":"ref_141","unstructured":"Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (1993). GeneReviews, University of Washington."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"eaap8757","DOI":"10.1126\/science.aap8757","article-title":"Analysis of shared heritability in common disorders of the brain","volume":"360","author":"Anttila","year":"2018","journal-title":"Science"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/j.cell.2019.07.037","article-title":"Getting to the Cores of Autism","volume":"178","author":"Iakoucheva","year":"2019","journal-title":"Cell"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.jcomdis.2018.05.003","article-title":"Genetic testing and autism: Tutorial for communication sciences and disorders","volume":"74","author":"DeThorne","year":"2018","journal-title":"J. Commun. Disord."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s13229-018-0222-8","article-title":"Autism spectrum disorder: Prospects for treatment using gene therapy","volume":"9","author":"Benger","year":"2018","journal-title":"Mol. Autism"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1080\/1061186X.2019.1630415","article-title":"Gene therapy for neurological disorders: Challenges and recent advancements","volume":"28","author":"Pena","year":"2020","journal-title":"J. Drug Target."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/23\/16768\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:30:32Z","timestamp":1760131832000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/24\/23\/16768"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,26]]},"references-count":146,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["ijms242316768"],"URL":"https:\/\/doi.org\/10.3390\/ijms242316768","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,26]]}}}