{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T11:07:53Z","timestamp":1792062473596,"version":"4.4.0"},"reference-count":33,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2010,5,28]],"date-time":"2010-05-28T00:00:00Z","timestamp":1275004800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0010887","type":"journal-article","created":{"date-parts":[[2010,5,28]],"date-time":"2010-05-28T20:49:22Z","timestamp":1275079762000},"page":"e10887","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":83,"title":["Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes"],"prefix":"10.1371","volume":"5","author":[{"given":"Hilgo","family":"Bruining","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo","family":"de Sonneville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"Swaab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maretha","family":"de Jonge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martien","family":"Kas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herman","family":"van Engeland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Vorstman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2010,5,28]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1038\/nrg2346","article-title":"Advances in autism genetics: on the threshold of a new neurobiology.","volume":"9","author":"BS Abrahams","year":"2008","journal-title":"Nat Rev Genet"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"e472","DOI":"10.1542\/peds.113.5.e472","article-title":"The genetics of autism.","volume":"113","author":"R Muhle","year":"2004","journal-title":"Pediatrics"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1038\/nm0507-534","article-title":"Autism: highly heritable but not inherited.","volume":"13","author":"AL Beaudet","year":"2007","journal-title":"Nat Med"},{"key":"ref4","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":"J Sebat","year":"2007","journal-title":"Science"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"e1000536","DOI":"10.1371\/journal.pgen.1000536","article-title":"Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.","volume":"5","author":"M Bucan","year":"2009","journal-title":"PLoS Genet"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","article-title":"Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.","volume":"359","author":"HC Mefford","year":"2008","journal-title":"N Engl J Med"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1016\/j.chc.2007.03.004","article-title":"Rett syndrome.","volume":"16","author":"GB Ben Zeev","year":"2007","journal-title":"Child Adolesc Psychiatr Clin N Am"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1177\/08830738050200082701","article-title":"Natural history of Rett syndrome.","volume":"20","author":"Y Nomura","year":"2005","journal-title":"J Child Neurol"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1086\/320109","article-title":"MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.","volume":"68","author":"R Trappe","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/13810","article-title":"Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.","volume":"23","author":"RE Amir","year":"1999","journal-title":"Nat Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1038\/sj.mp.4001896","article-title":"The genetics of autistic disorders and its clinical relevance: a review of the literature.","volume":"12","author":"CM Freitag","year":"2007","journal-title":"Mol Psychiatry"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O","article-title":"47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling.","volume":"17","author":"L Abramsky","year":"1997","journal-title":"Prenat Diagn"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1210\/jc.2002-021491","article-title":"Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.","volume":"88","author":"A Bojesen","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1136\/jmg.33.8.719","article-title":"Prevalence of 22q11 microdeletion.","volume":"33","author":"MS Tezenas Du","year":"1996","journal-title":"J Med Genet"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1007\/s10803-006-0308-6","article-title":"Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).","volume":"37","author":"KM Antshel","year":"2007","journal-title":"J Autism Dev Disord"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"e865","DOI":"10.1542\/peds.2008-1954","article-title":"Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome.","volume":"123","author":"H Bruining","year":"2009","journal-title":"Pediatrics"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1097\/01.chi.0000228131.56956.c1","article-title":"The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.","volume":"45","author":"JA Vorstman","year":"2006","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1023\/A:1022155201662","article-title":"Chromosomal abnormalities in a series of children with autistic disorder.","volume":"29","author":"MM Konstantareas","year":"1999","journal-title":"J Autism Dev Disord"},{"key":"ref19","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":"CR Marshall","year":"2008","journal-title":"Am J Hum Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s10803-006-0196-9","article-title":"Systematic screening for subtelomeric anomalies in a clinical sample of autism.","volume":"37","author":"TH Wassink","year":"2007","journal-title":"J Autism Dev Disord"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1023\/A:1025014929212","article-title":"Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised.","volume":"33","author":"JN Constantino","year":"2003","journal-title":"J Autism Dev Disord"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1007\/BF02211841","article-title":"Autism diagnostic observation schedule: a standardized observation of communicative and social behavior.","volume":"19","author":"C Lord","year":"1989","journal-title":"J Autism Dev Disord"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/nrg2554","article-title":"Human genetic variation and its contribution to complex traits.","volume":"10","author":"KA Frazer","year":"2009","journal-title":"Nat Rev Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/BF02172145","article-title":"Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders.","volume":"24","author":"C Lord","year":"1994","journal-title":"J Autism Dev Disord"},{"key":"ref25","article-title":"Wechsler preschool and primary scale of intelligence-revised.","author":"D Wechsler","year":"1989"},{"key":"ref26","article-title":"Wechsler Adult Intelligence Scale-Third Edition.","author":"D Wechsler","year":"1997"},{"key":"ref27","article-title":"WISC-III NL, Handleiding.","author":"D Wechsler","year":"2002"},{"key":"ref28","article-title":"Colored progressive matrices sets I and II.","author":"JC Raven","year":"1995"},{"key":"ref29","article-title":"Mullen Scales of Early Learning.","author":"EM Mullen","year":"1995"},{"key":"ref30","article-title":"SON-R 2, 5-7 Niet-verbale Intelligentietest - Revisie [SON-R 2, 5-7 Snijders-Oomen Non-verbal Intelligencetest-Revised].","author":"JT Snijders","year":"2009"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1023\/B:JADD.0000022604.22374.5f","article-title":"Interrelationship between Autism Diagnostic Observation Schedule-Generic (ADOS-G), Autism Diagnostic Interview-Revised (ADI-R), and the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV-TR) classification in children and adolescents with mental retardation.","volume":"34","author":"A de Bildt","year":"2004","journal-title":"J Autism Dev Disord"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1176\/ajp.2006.163.12.2148","article-title":"5-HTTLPR Genotype-Specific Phenotype in Children and Adolescents With Autism.","volume":"163","author":"CW Brune","year":"2006","journal-title":"Am J Psychiatry"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"2642","DOI":"10.1002\/ajmg.a.32012","article-title":"Comparing phenotypes in patients with idiopathic autism to patients with velocardiofacial syndrome (22q11 DS) with and without autism.","volume":"143A","author":"WR Kates","year":"2007","journal-title":"Am J Med Genet A"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0010887","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,9]],"date-time":"2020-05-09T13:09:43Z","timestamp":1589029783000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0010887"}},"subtitle":[],"editor":[{"given":"Syed A.","family":"Aziz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2010,5,28]]},"references-count":33,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2010,5,28]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0010887","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5,28]]}}}