{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T15:23:56Z","timestamp":1792596236207,"version":"4.5.0"},"reference-count":112,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T00:00:00Z","timestamp":1678320000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Autism spectrum disorder (ASD) consists of a group of heterogeneous genetic neurobehavioral disorders associated with developmental impairments in social communication skills and stereotypic, rigid or repetitive behaviors. We review common behavioral, psychiatric and genetic associations related to ASD. Autism affects about 2% of children with 4:1 male-to-female ratio and a heritability estimate between 70 and 90%. The etiology of ASD involves a complex interplay between inheritance and environmental factors influenced by epigenetics. Over 800 genes and dozens of genetic syndromes are associated with ASD. Novel gene\u2013protein interactions with pathway and molecular function analyses have identified at least three functional pathways including chromatin modeling, Wnt, Notch and other signaling pathways and metabolic disturbances involving neuronal growth and dendritic spine profiles. An estimated 50% of individuals with ASD are diagnosed with chromosome deletions or duplications (e.g., 15q11.2, BP1-BP2, 16p11.2 and 15q13.3), identified syndromes (e.g., Williams, Phelan-McDermid and Shprintzen velocardiofacial) or single gene disorders. Behavioral and psychiatric conditions in autism impacted by genetics influence clinical evaluations, counseling, diagnoses, therapeutic interventions and treatment approaches. Pharmacogenetics testing is now possible to help guide the selection of psychotropic medications to treat challenging behaviors or co-occurring psychiatric conditions commonly seen in ASD. In this review of the autism spectrum disorder, behavioral, psychiatric and genetic observations and associations relevant to the evaluation and treatment of individuals with ASD are discussed.<\/jats:p>","DOI":"10.3390\/genes14030677","type":"journal-article","created":{"date-parts":[[2023,3,9]],"date-time":"2023-03-09T02:33:16Z","timestamp":1678329196000},"page":"677","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":206,"title":["The Autism Spectrum: Behavioral, Psychiatric and Genetic Associations"],"prefix":"10.3390","volume":"14","author":[{"given":"Ann","family":"Genovese","sequence":"first","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd., MS 4015, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2911-0524","authenticated-orcid":false,"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd., MS 4015, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,9]]},"reference":[{"key":"ref_1","unstructured":"World Health Organization (2022, October 30). ICD-11: International Classification of Diseases (11th Revision). Available online: https:\/\/icd.who.int\/."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1037\/a0028353","article-title":"Deficit, difference, or both?","volume":"49","author":"Kapp","year":"2013","journal-title":"Autism Neurodivers. Dev. Psychol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s42399-022-01302-1","article-title":"Autism Spectrum Disorder: A Review of Behavioral and Psychiatric Challenges Across the Lifespan","volume":"4","author":"Genovese","year":"2022","journal-title":"SN Compr. Clin. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1080\/09540261.2018.1450229","article-title":"Co-occurring psychiatric conditions in autism spectrum disorder","volume":"30","author":"Rosen","year":"2018","journal-title":"Int. Rev. Psychiatry"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"952","DOI":"10.1016\/j.ridd.2014.02.012","article-title":"Commonly studied comorbid psychopathologies among persons with autism spectrum disorder","volume":"35","author":"Matson","year":"2014","journal-title":"Res. Dev. Disabil."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1916","DOI":"10.1007\/s10803-016-2722-8","article-title":"Psychiatric Co-occurring Symptoms and Disorders in Young, Middle-Aged, and Older Adults with Autism Spectrum Disorder","volume":"46","author":"Lever","year":"2016","journal-title":"J Autism Dev Disord."},{"key":"ref_7","first-page":"1","article-title":"Prevalence and characteristics of autism spectrum disorder among children aged 8 years\u2014Autism and developmental disabilities monitoring network, 11 sites, United States, 2012","volume":"65","author":"Christensen","year":"2016","journal-title":"Morb. Mortal. Wkly. Rep. Surveill. Summ."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"3689","DOI":"10.1007\/s10803-017-3344-5","article-title":"Verbal ability and psychiatric symptoms in clinically referred inpatient and outpatient youth with ASD","volume":"48","author":"Lerner","year":"2018","journal-title":"J. Autism Dev. Disord."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"6464","DOI":"10.3390\/ijms16036464","article-title":"High-resolution chromosome ideogram representation of currently recognized genes for autism spectrum disorders","volume":"16","author":"Butler","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.3390\/ijms17122070","article-title":"Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for neurodevelopmental disorders","volume":"17","author":"Ho","year":"2016","journal-title":"Int. J. Mol. Sci."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Genovese, A., and Butler, M.G. (2020). Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD). Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21134726"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/s10545-017-0128-1","article-title":"The role of the clinician in the multi-omics era: Are you ready?","volume":"41","author":"Wortmann","year":"2018","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/jimd.12008","article-title":"Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era","volume":"42","author":"Wanders","year":"2019","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/jimd.12315","article-title":"Developments in evidence creation for treatments of inborn errors of metabolism","volume":"44","author":"Potter","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1038\/s41436-020-00996-9","article-title":"The role of clinical response to treatment in determining pathogenicity of genomic variants","volume":"23","author":"Shen","year":"2021","journal-title":"Genet. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1186\/s13023-021-01727-2","article-title":"Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app","volume":"16","author":"Wortmann","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.chc.2013.07.002","article-title":"Emotion regulation: Concepts & practice in autism spectrum disorder","volume":"23","author":"Mazefsky","year":"2014","journal-title":"Child Adolesc. Psychiatr. Clin. N. Am."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"125","DOI":"10.2147\/PRBM.S44635","article-title":"The association between self-injurious behaviors and autism spectrum disorders","volume":"7","author":"Minshawi","year":"2014","journal-title":"Psychol. Res. Behav. Manag."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1111\/jir.12490","article-title":"Self-injurious behaviours in children and adults with autism spectrum disorder (ASD)","volume":"62","author":"Gulsrud","year":"2018","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1007\/s10803-016-2951-x","article-title":"Factors associated with self-injurious behaviors in children with autism spectrum disorder: Findings from two large national samples","volume":"47","author":"Soke","year":"2017","journal-title":"J. Autism Dev. Disord."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1017\/S1355617717000601","article-title":"Cross-Disorder Cognitive Impairments in Youth Referred for Neuropsychiatric Evaluation","volume":"24","author":"Doyle","year":"2018","journal-title":"J. Int. Neuropsychol. Soc."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1177\/0963721411429458","article-title":"The Nature and Organization of Individual Differences in Executive Functions: Four General Conclusions","volume":"21","author":"Miyake","year":"2012","journal-title":"Curr. Dir. Psychol. Sci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1097\/CHI.0b013e31816bff88","article-title":"Co-occurrence of motor problems and autistic symptoms in attention-deficit\/hyperactivity disorder","volume":"47","author":"Reiersen","year":"2008","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_24","first-page":"217","article-title":"Autistic disturbances of affective contact","volume":"2","author":"Kanner","year":"1943","journal-title":"Nervous Child"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"31","DOI":"10.2217\/fnl-2017-0030","article-title":"Comorbid autism spectrum disorder and anxiety disorders: A brief review","volume":"13","author":"Zaboski","year":"2018","journal-title":"Future Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1007\/s10567-011-0097-0","article-title":"Anxiety disorders in children and adolescents with autistic spectrum disorders: A meta-analysis","volume":"14","author":"Perrin","year":"2011","journal-title":"Clin. Child Fam. Psychol. Rev."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Afif, I.Y., Farkhan, M., Kurdi, O., Maula, M.I., Ammarullah, M.I., Setiyana, B., Jamari, J., and Winarni, T.I. (2022). Effect of Short-Term Deep-Pressure Portable Seat on Behavioral and Biological Stress in Children with Autism Spectrum Disorders: A Pilot Study. Bioengineering, 9.","DOI":"10.3390\/bioengineering9020048"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Afif, I.Y., Manik, A.R., Munthe, K., Maula, M.I., Ammarullah, M.I., Jamari, J., and Winarni, T.I. (2022). Physiological Effect of Deep Pressure in Reducing Anxiety of Children with ASD during Traveling: A Public Transportation Setting. Bioengineering, 9.","DOI":"10.3390\/bioengineering9040157"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association (2013). Diagnostic and Statistical Manual of Mental Disorders, American Psychiatric Association. [5th ed.].","DOI":"10.1176\/appi.books.9780890425596"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Mazzone, L., and Vitiello, B. (2016). Psychiatric Symptoms and Comorbidities in Autism Spectrum Disorder, Springer.","DOI":"10.1007\/978-3-319-29695-1"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1007\/s11920-017-0846-y","article-title":"Anxiety Disorders and Obsessive-Compulsive Disorder in Individuals with Autism Spectrum Disorder","volume":"19","author":"Postorino","year":"2017","journal-title":"Curr. Psychiatry Rep."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1089\/trgh.2018.0014","article-title":"What is gender dysphoria? A critical systematic narrative review","volume":"3","author":"Davy","year":"2018","journal-title":"Transgender. Health"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"970","DOI":"10.1177\/1362361317714587","article-title":"Gender identity and sexual orientation in autism spectrum disorder","volume":"22","author":"George","year":"2018","journal-title":"Autism"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"3959","DOI":"10.1038\/s41467-020-17794-1","article-title":"Elevated rates of autism, other neurodevelopmental and psychiatric diagnoses, and autistic traits in transgender and gender-diverse individuals","volume":"11","author":"Warrier","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1007\/s10803-019-04298-1","article-title":"Prevalence of autism spectrum disorder and attention-deficit hyperactivity disorder amongst individuals with gender dysphoria: A systematic review","volume":"50","author":"Thrower","year":"2020","journal-title":"J. Autism Dev. Disord."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1080\/15374416.2016.1228462","article-title":"Initial clinical guidelines for co-occurring autism spectrum disorder and gender dysphoria or incongruence in adolescents","volume":"47","author":"Strang","year":"2018","journal-title":"J. Clin. Child Adolesc. Psychol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2307","DOI":"10.1007\/s10508-018-1218-3","article-title":"Prevalence of the wish to be of the opposite gender in adolescents and adults with autism spectrum disorder","volume":"47","author":"Hurley","year":"2018","journal-title":"Arch. Sex. Behav."},{"key":"ref_38","doi-asserted-by":"crossref","unstructured":"Genovese, A.C., Singh, S.C., Casubhoy, I., and Hellings, J.A. (2022). Gender Diverse Autistic Young Adults: A Mental Health Perspective. Arch. Sex. Behav.","DOI":"10.1007\/s10508-022-02443-z"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"e181465","DOI":"10.1001\/jamanetworkopen.2018.1465","article-title":"Association Between Autism Spectrum Disorders with or without Intellectual Disability and Depression in Young Adulthood","volume":"1","author":"Rai","year":"2018","journal-title":"JAMA Netw. Open"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"219","DOI":"10.31887\/DCNS.2015.17.2\/tchandrasekhar","article-title":"Challenges in the diagnosis and treatment of depression in autism spectrum disorders across the lifespan","volume":"17","author":"Chandrasekhar","year":"2015","journal-title":"Dialogues Clin. Neurosci."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1001\/jamapsychiatry.2014.3059","article-title":"Risks for nonaffective psychotic disorder and bipolar disorder in young people with autism spectrum disorder: A population-based study","volume":"72","author":"Selten","year":"2015","journal-title":"JAMA Psychiatry"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.jad.2014.06.042","article-title":"Bipolar disorder in adults with Asperger\u05f3s Syndrome: A systematic review","volume":"168","author":"Vannucchi","year":"2014","journal-title":"J. Affect Disord."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.jaac.2018.03.003","article-title":"Recognizing the problem of suicidality in autism spectrum disorder","volume":"57","year":"2018","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1016\/S2215-0366(14)70248-2","article-title":"Suicidal ideation and suicide plans or attempts in adults with Asperger\u2019s syndrome attending a specialist diagnostic clinic: A clinical cohort study","volume":"1","author":"Cassidy","year":"2014","journal-title":"Lancet Psychiatry"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1192\/bjp.bp.114.160192","article-title":"Premature mortality in autism spectrum disorder","volume":"208","author":"Hirvikoski","year":"2016","journal-title":"Br. J. Psychiatry"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13229-018-0226-4","article-title":"Risk markers for suicidality in autistic adults","volume":"9","author":"Cassidy","year":"2018","journal-title":"Mol. Autism"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1002\/aur.1375","article-title":"What do we know about suicidality in autism spectrum disorders? A systematic review","volume":"7","author":"Segers","year":"2014","journal-title":"Autism Res."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1007\/s10803-016-2914-2","article-title":"Increased risk for substance use-related problems in autism spectrum disorders: A population-based cohort study","volume":"47","author":"Butwicka","year":"2017","journal-title":"J. Autism Dev. Disord."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1089\/aut.2019.0051","article-title":"The critical lack of data on alcohol and marijuana use by adolescents on the autism spectrum","volume":"2","author":"Adhia","year":"2020","journal-title":"Autism Adulthood"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"391","DOI":"10.5498\/wjp.v6.i4.391","article-title":"Catatonia: Our current understanding of its diagnosis, treatment and pathophysiology","volume":"6","author":"Rasmussen","year":"2016","journal-title":"World J. Psychiatry"},{"key":"ref_51","first-page":"89","article-title":"Catatonia in autism spectrum disorders: Review and case-report","volume":"57","author":"Dhossche","year":"2015","journal-title":"Tijdschr. Psychiatr."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/s40263-014-0143-9","article-title":"Catatonia in patients with autism: Prevalence and management","volume":"28","author":"Mazzone","year":"2014","journal-title":"CNS Drugs"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s00787-008-0676-x","article-title":"Catatonia in autism: Implications across the life span","volume":"17","author":"Wachtel","year":"2008","journal-title":"Eur. Child Adolesc. Psychiatry"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1192\/bjp.bp.116.187682","article-title":"Psychosis in autism: Comparison of the features of both conditions in a dually affected cohort","volume":"210","author":"Larson","year":"2017","journal-title":"Br. J. Psychiatry"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1093\/epirev\/mxn001","article-title":"Schizophrenia: A concise overview of incidence, prevalence, and mortality","volume":"30","author":"McGrath","year":"2008","journal-title":"Epidemiol. Rev."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1002\/aur.1977","article-title":"Association between schizophrenia and autism spectrum disorder: A systematic review and meta-analysis","volume":"11","author":"Zheng","year":"2018","journal-title":"Autism Res."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/s10803-017-3328-5","article-title":"Prevalence of Schizophrenia Spectrum Disorders in Average-IQ Adults with Autism Spectrum Disorders: A Meta-analysis","volume":"48","year":"2018","journal-title":"J. Autism Dev. Disord."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1097\/GIM.0b013e31815efdd7","article-title":"Genetics evaluation for the etiologic diagnosis of autism spectrum disorders","volume":"10","author":"Schaefer","year":"2008","journal-title":"Genet. Med."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1038\/gim.2013.32","article-title":"Professional Practice and Guidelines Committee. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions","volume":"15","author":"Schaefer","year":"2013","journal-title":"Genet. Med."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"322","DOI":"10.2174\/138920211796429745","article-title":"Genetics and mitochondrial abnormalities in autism spectrum disorders: A review","volume":"12","author":"Dhillon","year":"2011","journal-title":"Curr. Genom."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1097\/GIM.0b013e3181ff67ba","article-title":"Autism spectrum disorders\u2014A genetics review","volume":"13","author":"Miles","year":"2011","journal-title":"Genet. Med."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s11689-018-9238-9","article-title":"A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees","volume":"10","author":"Paterson","year":"2018","journal-title":"J. Neurodev. Disord."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.2004.024646","article-title":"Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations","volume":"42","author":"Butler","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_64","first-page":"242537","article-title":"Assessment and treatment in autism spectrum disorders: A focus on genetics and psychiatry","volume":"2012","author":"Butler","year":"2012","journal-title":"Autism Res. Treat."},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Masini, E., Loi, E., Vega-Benedetti, A.F., Carta, M., Doneddu, G., Fadda, R., and Zavattari, P. (2020). An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21218290"},{"key":"ref_66","unstructured":"Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators, and Centers for Disease Control and Prevention (CDC) (2009). Prevalence of autism spectrum disorders\u2014Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill. Summ., 58, 1\u201320. Erratum in: MMWR Surveill Summ. 2010, 59."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1007\/s40291-018-0352-x","article-title":"Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder","volume":"22","author":"Rose","year":"2018","journal-title":"Mol. Diagn. Ther."},{"key":"ref_68","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_69","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_70","first-page":"1000150","article-title":"Structural Variants Identified Using Non-Mendelian Inheritance Patterns Advance The Mechanistic Understanding Of Autism Spectrum Disorder","volume":"4","author":"Kainer","year":"2023","journal-title":"HGG Adv."},{"key":"ref_71","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_72","doi-asserted-by":"crossref","unstructured":"McGuire, A.B., Rafi, S.K., Manzardo, A.M., and Butler, M.G. (2016). Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17050673"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1126\/science.283.5407.1482","article-title":"Mitochondrial diseases in mand and mouse","volume":"283","author":"Wallace","year":"1999","journal-title":"Science"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1056\/NEJMra022567","article-title":"Mitochondrial respiratory-chain diseases","volume":"348","author":"DiMauro","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.jpeds.2003.10.023","article-title":"Mitochondrial DNA abnormalities and autistic spectrum disorders","volume":"144","author":"Pons","year":"2004","journal-title":"J. Pediatr."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1172\/JCI200317741","article-title":"Neuronal degeneration and mitochondrial dysfunction","volume":"111","author":"Schon","year":"2003","journal-title":"J. Clin. Investig."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/iub.282","article-title":"Functional organization of mammalian mitochondrial DNA in nucleoids: History, recent developments, and future challenges","volume":"62","author":"Spelbrink","year":"2010","journal-title":"IUBMB Life"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.gde.2012.03.002","article-title":"Genetic architecture in autism spectrum disorder","volume":"22","author":"Delvin","year":"2012","journal-title":"Curr. Opin. Genet. Dev."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1016\/S1474-4422(15)00044-7","article-title":"Gene hunting in autism spectrum disorder: On the path to precision medicine","volume":"14","author":"Geschwind","year":"2015","journal-title":"Lancet Neurol."},{"key":"ref_80","first-page":"e2020003","article-title":"Genetic analysis of intellectual disability and autism","volume":"91","author":"Chiurazzi","year":"2020","journal-title":"Acta Biomed."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/nn.4524","article-title":"Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder","volume":"20","author":"Yuen","year":"2017","journal-title":"Nat. Neurosci."},{"key":"ref_82","doi-asserted-by":"crossref","unstructured":"Khanzada, N.S., Butler, M.G., and Manzardo, A.M. (2017). GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia. Int. J. Mol. Sci., 18.","DOI":"10.3390\/ijms18030527"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/emmm.201100157","article-title":"Links between genetics and pathophysiology in the autism spectrum disorders","volume":"3","author":"Holt","year":"2011","journal-title":"EMBO Molecul. Med."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1038\/s41398-020-01034-7","article-title":"Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders","volume":"10","author":"Baker","year":"2020","journal-title":"Transl. Psychiatry"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1542\/peds.2009-1684","article-title":"Austism Consortium Clinical Genetics\/DNA Diagnostics Collaboration. Clinical genetic testing for patients with autism spectrum disorders","volume":"125","author":"Shen","year":"2010","journal-title":"Pediatrics"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1136\/jmg.2008.059907","article-title":"Microdeletion\/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders","volume":"46","author":"Miller","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.pediatrneurol.2017.01.033","article-title":"Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders","volume":"70","author":"Rossi","year":"2017","journal-title":"Pediatr. Neurol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1001\/jama.2015.10078","article-title":"Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder","volume":"314","author":"Tammimies","year":"2017","journal-title":"JAMA"},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1002\/humu.23822","article-title":"Characterization of intellectual disability and autism comorbidity through gene panel sequencing","volume":"40","author":"Aspromonte","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_90","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_91","doi-asserted-by":"crossref","unstructured":"Veatch, O.J., Butler, M.G., Elsea, S.H., Malow, B.A., Sutcliffe, J.S., and Moore, J.H. (2020). An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21239029"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.3390\/ijms16011312","article-title":"Whole exome sequencing in females with autism implicates novel and candidate genes","volume":"16","author":"Butler","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/epi.16755","article-title":"Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis","volume":"62","author":"Stefanski","year":"2021","journal-title":"Epilepsia"},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.gene.2016.04.011","article-title":"High-resolution chromosome ideogram representation of recognized genes for bipolar disorder","volume":"586","author":"Douglas","year":"2016","journal-title":"Gene"},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1002\/ajmg.b.32391","article-title":"Currently recognized genes for schizophrenia: High-resolution chromosome ideogram representation","volume":"171","author":"Butler","year":"2016","journal-title":"Am. J. Med. Genet. Part B Neuropsychiatr. Genet."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.gene.2017.10.035","article-title":"Functional analysis of schizophrenia genes using GeneAnalytics program and integrated databases","volume":"641","author":"Sundararajan","year":"2018","journal-title":"Gene"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1001\/archgenpsychiatry.2012.730","article-title":"Family history of schizophrenia and bipolar disorder as risk factors for autism","volume":"69","author":"Sullivan","year":"2012","journal-title":"Arch. Gen. Psychiatry"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"112922","DOI":"10.1016\/j.psychres.2020.112922","article-title":"Prevalence of comorbid psychiatric disorders among people with autism spectrum disorder: An umbrella review of systematic reviews and meta-analyses","volume":"287","author":"Hossain","year":"2020","journal-title":"Psychiatry Res."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"1461","DOI":"10.1093\/hmg\/8.8.1461","article-title":"PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome","volume":"8","author":"Marsh","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0092-8674(00)80674-1","article-title":"The multiple roles of PTEN in tumor suppression","volume":"100","author":"Pandolfi","year":"2000","journal-title":"Cell"},{"key":"ref_101","doi-asserted-by":"crossref","unstructured":"Gabrielli, A.P., Manzardo, A.M., and Butler, M.G. (2019). GeneAnalytics Pathways and Profiling of Shared Autism and Cancer Genes. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20051166"},{"key":"ref_102","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_103","doi-asserted-by":"crossref","unstructured":"Wen, Y., Alshikho, M.J., and Herbert, M.R. (2016). Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0153329"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"4321","DOI":"10.1007\/s10803-020-04685-z","article-title":"Genetic Advances in Autism","volume":"51","author":"Thapar","year":"2021","journal-title":"J. Autism Dev. Disord."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1089\/cap.2016.0100","article-title":"Beneficial Effects of Everolimus on Autism and Attention-Deficit\/Hyperactivity Disorder Symptoms in a Group of Patients with Tuberous Sclerosis Complex","volume":"27","author":"Kilincaslan","year":"2017","journal-title":"J. Child Adolesc. Psychopharmacol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"17","DOI":"10.29245\/2578-2959\/2018\/2.1120","article-title":"Pharmacogenetics and Psychiatric Care: A Review and Commentary","volume":"2","author":"Butler","year":"2018","journal-title":"J. Ment. Health Clin. Psychol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/cge.12392","article-title":"The emerging era of pharmacogenomics: Current successes, future potential, and challenges","volume":"86","author":"Lee","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.bbagen.2006.09.019","article-title":"Clinical implications of pharmacogenetics of cytochrome P450 drug metabolizing enzymes","volume":"1770","author":"Kirchheiner","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s40291-013-0028-5","article-title":"Applications of CYP450 testing in the clinical setting","volume":"17","author":"Samer","year":"2013","journal-title":"Mol. Diagn. Ther."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"561","DOI":"10.2174\/1389200023337054","article-title":"The cytochrome P450 superfamily: Biochemistry, evolution and drug metabolism in humans","volume":"3","author":"Danielson","year":"2002","journal-title":"Curr. Drug Metab."},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Forster, J., Duis, J., and Butler, M.G. (2021). Pharmacogenetic Testing of Cytochrome P450 Drug Metabolizing Enzymes in a Case Series of Patients with Prader-Willi Syndrome. Genes, 12.","DOI":"10.3390\/genes12020152"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1186\/1479-7364-1-5-375","article-title":"Human pharmacogenomics: The development of a science","volume":"1","author":"Kalow","year":"2004","journal-title":"Hum. Genom."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/3\/677\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:51:32Z","timestamp":1760122292000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/3\/677"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,9]]},"references-count":112,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["genes14030677"],"URL":"https:\/\/doi.org\/10.3390\/genes14030677","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,9]]}}}