{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T19:17:55Z","timestamp":1774552675974,"version":"3.50.1"},"reference-count":88,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2012,2,9]],"date-time":"2012-02-09T00:00:00Z","timestamp":1328745600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1002521","type":"journal-article","created":{"date-parts":[[2012,2,9]],"date-time":"2012-02-09T17:09:57Z","timestamp":1328807397000},"page":"e1002521","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":347,"title":["Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders"],"prefix":"10.1371","volume":"8","author":[{"given":"Claire S.","family":"Leblond","sequence":"first","affiliation":[]},{"given":"Jutta","family":"Heinrich","sequence":"additional","affiliation":[]},{"given":"Richard","family":"Delorme","sequence":"additional","affiliation":[]},{"given":"Christian","family":"Proepper","sequence":"additional","affiliation":[]},{"given":"Catalina","family":"Betancur","sequence":"additional","affiliation":[]},{"given":"Guillaume","family":"Huguet","sequence":"additional","affiliation":[]},{"given":"Marina","family":"Konyukh","sequence":"additional","affiliation":[]},{"given":"Pauline","family":"Chaste","sequence":"additional","affiliation":[]},{"given":"Elodie","family":"Ey","sequence":"additional","affiliation":[]},{"given":"Maria","family":"Rastam","sequence":"additional","affiliation":[]},{"given":"Henrik","family":"Anckars\u00e4ter","sequence":"additional","affiliation":[]},{"given":"Gudrun","family":"Nygren","sequence":"additional","affiliation":[]},{"given":"I. Carina","family":"Gillberg","sequence":"additional","affiliation":[]},{"given":"Jonas","family":"Melke","sequence":"additional","affiliation":[]},{"given":"Roberto","family":"Toro","sequence":"additional","affiliation":[]},{"given":"Beatrice","family":"Regnault","sequence":"additional","affiliation":[]},{"given":"Fabien","family":"Fauchereau","sequence":"additional","affiliation":[]},{"given":"Oriane","family":"Mercati","sequence":"additional","affiliation":[]},{"given":"Nathalie","family":"Lemi\u00e8re","sequence":"additional","affiliation":[]},{"given":"David","family":"Skuse","sequence":"additional","affiliation":[]},{"given":"Martin","family":"Poot","sequence":"additional","affiliation":[]},{"given":"Richard","family":"Holt","sequence":"additional","affiliation":[]},{"given":"Anthony P.","family":"Monaco","sequence":"additional","affiliation":[]},{"given":"Irma","family":"J\u00e4rvel\u00e4","sequence":"additional","affiliation":[]},{"given":"Katri","family":"Kantoj\u00e4rvi","sequence":"additional","affiliation":[]},{"given":"Raija","family":"Vanhala","sequence":"additional","affiliation":[]},{"given":"Sarah","family":"Curran","sequence":"additional","affiliation":[]},{"given":"David A.","family":"Collier","sequence":"additional","affiliation":[]},{"given":"Patrick","family":"Bolton","sequence":"additional","affiliation":[]},{"given":"Andreas","family":"Chiocchetti","sequence":"additional","affiliation":[]},{"given":"Sabine M.","family":"Klauck","sequence":"additional","affiliation":[]},{"given":"Fritz","family":"Poustka","sequence":"additional","affiliation":[]},{"given":"Christine M.","family":"Freitag","sequence":"additional","affiliation":[]},{"given":"Regina","family":"Waltes","sequence":"additional","affiliation":[]},{"given":"Marnie","family":"Kopp","sequence":"additional","affiliation":[]},{"given":"Eftichia","family":"Duketis","sequence":"additional","affiliation":[]},{"given":"Elena","family":"Bacchelli","sequence":"additional","affiliation":[]},{"given":"Fiorella","family":"Minopoli","sequence":"additional","affiliation":[]},{"given":"Liliana","family":"Ruta","sequence":"additional","affiliation":[]},{"given":"Agatino","family":"Battaglia","sequence":"additional","affiliation":[]},{"given":"Luigi","family":"Mazzone","sequence":"additional","affiliation":[]},{"given":"Elena","family":"Maestrini","sequence":"additional","affiliation":[]},{"given":"Ana F.","family":"Sequeira","sequence":"additional","affiliation":[]},{"given":"Barbara","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Astrid","family":"Vicente","sequence":"additional","affiliation":[]},{"given":"Guiomar","family":"Oliveira","sequence":"additional","affiliation":[]},{"given":"Dalila","family":"Pinto","sequence":"additional","affiliation":[]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[]},{"given":"Diana","family":"Zelenika","sequence":"additional","affiliation":[]},{"given":"Marc","family":"Delepine","sequence":"additional","affiliation":[]},{"given":"Mark","family":"Lathrop","sequence":"additional","affiliation":[]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[]},{"given":"Vincent","family":"Guinchat","sequence":"additional","affiliation":[]},{"given":"Fran\u00e7oise","family":"Devillard","sequence":"additional","affiliation":[]},{"given":"Brigitte","family":"Assouline","sequence":"additional","affiliation":[]},{"given":"Marie-Christine","family":"Mouren","sequence":"additional","affiliation":[]},{"given":"Marion","family":"Leboyer","sequence":"additional","affiliation":[]},{"given":"Christopher","family":"Gillberg","sequence":"additional","affiliation":[]},{"given":"Tobias M.","family":"Boeckers","sequence":"additional","affiliation":[]},{"given":"Thomas","family":"Bourgeron","sequence":"additional","affiliation":[]}],"member":"340","published-online":{"date-parts":[[2012,2,9]]},"reference":[{"key":"ref1","article-title":"Diagnostic and Statistical Manual of Mental Disorders, 4th Ed","year":"1994"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1016\/j.ridd.2010.01.007","article-title":"Autism spectrum disorder diagnoses in Stockholm preschoolers.","volume":"31","author":"E Fernell","year":"2010","journal-title":"Res Dev Disabil"},{"key":"ref3","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":"ref4","article-title":"Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism.","author":"J Hallmayer","year":"2011","journal-title":"Arch Gen Psychiatry"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.conb.2009.06.003","article-title":"A synaptic trek to autism.","volume":"19","author":"T Bourgeron","year":"2009","journal-title":"Curr Opin Neurobiol"},{"key":"ref6","article-title":"Key role for gene dosage and synaptic homeostasis in autism spectrum disorders.","author":"R Toro","year":"2010","journal-title":"Trends Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1933","article-title":"Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.","volume":"39","author":"CM Durand","year":"2007","journal-title":"Nat Genet"},{"key":"ref8","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":"S Jamain","year":"2003","journal-title":"Nat Genet"},{"key":"ref9","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":"D Pinto","year":"2010","journal-title":"Nature"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/ng1985","article-title":"Mapping autism risk loci using genetic linkage and chromosomal rearrangements.","volume":"39","author":"P Szatmari","year":"2007","journal-title":"Nat Genet"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/1471-2350-6-3","article-title":"Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder.","volume":"6","author":"KS Reddy","year":"2005","journal-title":"BMC Med Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/ng.835","article-title":"Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.","volume":"43","author":"BJ O'Roak","year":"2011","journal-title":"Nat Genet"},{"key":"ref13","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":"SJ Sanders","year":"2011","journal-title":"Neuron"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1016\/j.neuron.2011.05.015","article-title":"Rare de novo and transmitted copy-number variation in autistic spectrum disorders.","volume":"70","author":"D Levy","year":"2011","journal-title":"Neuron"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s10048-009-0205-1","article-title":"Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.","volume":"11","author":"M Poot","year":"2010","journal-title":"Neurogenetics"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"3366","DOI":"10.1093\/hmg\/ddr243","article-title":"Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.","volume":"20","author":"CP Schaaf","year":"2011","journal-title":"Hum Mol Genet"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1038\/ng.534","article-title":"A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.","volume":"42","author":"S Girirajan","year":"2010","journal-title":"Nat Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.brainres.2010.11.078","article-title":"Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting.","volume":"1380","author":"C Betancur","year":"2011","journal-title":"Brain Res"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1016\/j.neuron.2011.05.021","article-title":"Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.","volume":"70","author":"SR Gilman","year":"2011","journal-title":"Neuron"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1038\/ng.909","article-title":"A copy number variation morbidity map of developmental delay.","volume":"43","author":"GM Cooper","year":"2011","journal-title":"Nat Genet"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/nature07456","article-title":"Neuroligins and neurexins link synaptic function to cognitive disease.","volume":"455","author":"TC Sudhof","year":"2008","journal-title":"Nature"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.conb.2009.07.002","article-title":"Dendritic signalling and homeostatic adaptation.","volume":"19","author":"LM Yu","year":"2009","journal-title":"Curr Opin Neurobiol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1086\/522590","article-title":"Contribution of SHANK3 mutations to autism spectrum disorder.","volume":"81","author":"R Moessner","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"7863","DOI":"10.1073\/pnas.0906232107","article-title":"De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.","volume":"107","author":"J Gauthier","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.ajhg.2011.02.001","article-title":"Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.","volume":"88","author":"FF Hamdan","year":"2011","journal-title":"Am J Hum Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/ng.589","article-title":"Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.","volume":"42","author":"S Berkel","year":"2010","journal-title":"Nat Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.tins.2006.05.010","article-title":"Searching for ways out of the autism maze: genetic, epigenetic and environmental clues.","volume":"29","author":"AM Persico","year":"2006","journal-title":"Trends Neurosci"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"6506","DOI":"10.1523\/JNEUROSCI.19-15-06506.1999","article-title":"Proline-rich synapse-associated protein-1\/cortactin binding protein 1 (ProSAP1\/CortBP1) is a PDZ-domain protein highly enriched in the postsynaptic density.","volume":"19","author":"TM Boeckers","year":"1999","journal-title":"J Neurosci"},{"issue":"Pt 11","key":"ref29","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1242\/jcs.113.11.1851","article-title":"The Shank family of scaffold proteins.","volume":"113","author":"M Sheng","year":"2000","journal-title":"J Cell Sci"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1042\/bj20031577","article-title":"Characterization of an ankyrin repeat-containing Shank2 isoform (Shank2E) in liver epithelial cells.","volume":"380","author":"RR McWilliams","year":"2004","journal-title":"Biochem J"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1006\/bbrc.1999.1489","article-title":"Proline-rich synapse-associated proteins ProSAP1 and ProSAP2 interact with synaptic proteins of the SAPAP\/GKAP family.","volume":"264","author":"TM Boeckers","year":"1999","journal-title":"Biochem Biophys Res Commun"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"29510","DOI":"10.1074\/jbc.274.41.29510","article-title":"Characterization of the Shank family of synaptic proteins. Multiple genes, alternative splicing, and differential expression in brain and development.","volume":"274","author":"S Lim","year":"1999","journal-title":"J Biol Chem"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/ajmg.b.30229","article-title":"Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders.","volume":"141","author":"CM Durand","year":"2006","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"2042","DOI":"10.1111\/j.1460-9568.2009.07007.x","article-title":"Activity-driven mobilization of post-synaptic proteins.","volume":"30","author":"RC Gutierrez","year":"2009","journal-title":"Eur J Neurosci"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1159\/000322054","article-title":"Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.","volume":"1","author":"A Wischmeijer","year":"2010","journal-title":"Mol Syndromol"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1002\/cne.20194","article-title":"The postsynaptic scaffold proteins ProSAP1\/Shank2 and Homer1 are associated with glutamate receptor complexes at rat retinal synapses.","volume":"475","author":"JH Brandstatter","year":"2004","journal-title":"J Comp Neurol"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1002\/j.1550-8528.1998.tb00361.x","article-title":"Psychiatric ill-health of women and its relationship to obesity and body fat distribution.","volume":"6","author":"R Rosmond","year":"1998","journal-title":"Obes Res"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1001\/archpsyc.1993.01820240059008","article-title":"A psychobiological model of temperament and character.","volume":"50","author":"CR Cloninger","year":"1993","journal-title":"Arch Gen Psychiatry"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1111\/j.1600-0447.1987.tb02881.x","article-title":"Markers for vulnerability to psychopathology: temperament traits associated with platelet MAO activity.","volume":"76","author":"D Schalling","year":"1987","journal-title":"Acta Psychiatr Scand"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1001\/archpsyc.60.10.1017","article-title":"A polymorphism in the serotonin receptor 3A (HTR3A) gene and its association with harm avoidance in women.","volume":"60","author":"J Melke","year":"2003","journal-title":"Arch Gen Psychiatry"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations.","volume":"7","author":"IA Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"ref42","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":"ref43","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":"DT Miller","year":"2009","journal-title":"J Med Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.biopsych.2009.01.025","article-title":"Screening for genomic rearrangements and methylation abnormalities of the 15q11\u2013q13 region in autism spectrum disorders.","volume":"66","author":"C Depienne","year":"2009","journal-title":"Biol Psychiatry"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/ajmg.b.31055","article-title":"A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.","volume":"153B","author":"B van der Zwaag","year":"2010","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"ref46","doi-asserted-by":"crossref","first-page":"e727","DOI":"10.1542\/peds.2009-1684","article-title":"Clinical genetic testing for patients with autism spectrum disorders.","volume":"125","author":"Y Shen","year":"2010","journal-title":"Pediatrics"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/ng.93","article-title":"A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.","volume":"40","author":"AJ Sharp","year":"2008","journal-title":"Nat Genet"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1111\/j.1399-0004.2010.01374.x","article-title":"Delineation of 15q13.3 microdeletions.","volume":"78","author":"A Masurel-Paulet","year":"2010","journal-title":"Clin Genet"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/j.ejmg.2009.03.010","article-title":"Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.","volume":"52","author":"M Doornbos","year":"2009","journal-title":"Eur J Med Genet"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1038\/ng.292","article-title":"15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.","volume":"41","author":"I Helbig","year":"2009","journal-title":"Nat Genet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1002\/humu.21284","article-title":"Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?","volume":"31","author":"P Szafranski","year":"2010","journal-title":"Hum Mutat"},{"key":"ref52","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1136\/jmg.2008.064378","article-title":"Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.","volume":"46","author":"S Ben-Shachar","year":"2009","journal-title":"J Med Genet"},{"key":"ref53","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/nature07229","article-title":"Large recurrent microdeletions associated with schizophrenia.","volume":"455","author":"H Stefansson","year":"2008","journal-title":"Nature"},{"key":"ref54","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nature07239","article-title":"Rare chromosomal deletions and duplications increase risk of schizophrenia.","volume":"455","year":"2008","journal-title":"Nature"},{"key":"ref55","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1042\/BST0380445","article-title":"Confirmed rare copy number variants implicate novel genes in schizophrenia.","volume":"38","author":"GW Tam","year":"2010","journal-title":"Biochem Soc Trans"},{"key":"ref56","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1159\/000097433","article-title":"Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi\/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.","volume":"116","author":"SK Murthy","year":"2007","journal-title":"Cytogenet Genome Res"},{"key":"ref57","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1038\/ng.481","article-title":"A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.","volume":"41","author":"M Shinawi","year":"2009","journal-title":"Nat Genet"},{"key":"ref58","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1136\/jmg.2008.063412","article-title":"Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.","volume":"46","author":"BW van Bon","year":"2009","journal-title":"J Med Genet"},{"key":"ref59","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1038\/ejhg.2008.228","article-title":"A 15q13.3 microdeletion segregating with autism.","volume":"17","author":"AT Pagnamenta","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"ref60","doi-asserted-by":"crossref","first-page":"1497","DOI":"10.1093\/hmg\/ddp043","article-title":"Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.","volume":"18","author":"G Kirov","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/brain\/awp262","article-title":"Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.","volume":"133","author":"CG de Kovel","year":"2010","journal-title":"Brain"},{"key":"ref62","article-title":"Contactin 4 as an autism susceptibility locus.","author":"CE Cottrell","year":"2010","journal-title":"Autism Res"},{"key":"ref63","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1097\/GIM.0b013e3181f0c5f3","article-title":"Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.","volume":"12","author":"JA Rosenfeld","year":"2010","journal-title":"Genet Med"},{"key":"ref64","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/j.biopsych.2008.01.009","article-title":"Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.","volume":"63","author":"SL Christian","year":"2008","journal-title":"Biol Psychiatry"},{"key":"ref65","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1016\/j.ajhg.2008.09.011","article-title":"Recurrent CNVs disrupt three candidate genes in schizophrenia patients.","volume":"83","author":"T Vrijenhoek","year":"2008","journal-title":"Am J Hum Genet"},{"key":"ref66","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.bbrc.2007.01.127","article-title":"Neuroligins 3 and 4X interact with syntrophin-gamma2, and the interactions are affected by autism-related mutations.","volume":"355","author":"H Yamakawa","year":"2007","journal-title":"Biochem Biophys Res Commun"},{"key":"ref67","doi-asserted-by":"crossref","first-page":"3084","DOI":"10.1016\/j.yexcr.2006.06.019","article-title":"gamma-Syntrophin scaffolding is spatially and functionally distinct from that of the alpha\/beta syntrophins.","volume":"312","author":"A Alessi","year":"2006","journal-title":"Exp Cell Res"},{"key":"ref68","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/nature08797","article-title":"Direct conversion of fibroblasts to functional neurons by defined factors.","volume":"463","author":"T Vierbuchen","year":"2010","journal-title":"Nature"},{"key":"ref69","article-title":"SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism.","author":"CM Durand","year":"2011","journal-title":"Mol Psychiatry"},{"key":"ref70","article-title":"Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.","author":"S Berkel","year":"2011","journal-title":"Hum Mol Genet"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A map of human genome variation from population-scale sequencing.","volume":"467","author":"RM Durbin","year":"2010","journal-title":"Nature"},{"key":"ref72","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nature07239","article-title":"Rare chromosomal deletions and duplications increase risk of schizophrenia.","volume":"455","year":"2008","journal-title":"Nature"},{"key":"ref73","article-title":"15q11.2\u201313.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.","author":"DH Yasui","year":"2011","journal-title":"Hum Mol Genet"},{"key":"ref74","doi-asserted-by":"crossref","first-page":"3798","DOI":"10.1093\/hmg\/ddr298","article-title":"Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome.","volume":"20","author":"M Meguro-Horike","year":"2011","journal-title":"Hum Mol Genet"},{"key":"ref75","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1136\/jmg.2008.061580","article-title":"Chromosome 15q11\u201313 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted from copy number.","volume":"46","author":"A Hogart","year":"2009","journal-title":"J Med Genet"},{"key":"ref76","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.mcn.2008.05.017","article-title":"Multiple cell adhesion molecules shaping a complex nicotinic synapse on neurons.","volume":"39","author":"GB Triana-Baltzer","year":"2008","journal-title":"Mol Cell Neurosci"},{"key":"ref77","doi-asserted-by":"crossref","first-page":"23251","DOI":"10.1074\/jbc.M109.017384","article-title":"Presynaptic targeting of alpha4beta 2 nicotinic acetylcholine receptors is regulated by neurexin-1beta.","volume":"284","author":"SB Cheng","year":"2009","journal-title":"J Biol Chem"},{"key":"ref78","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1038\/aps.2009.52","article-title":"Postsynaptic scaffolds for nicotinic receptors on neurons.","volume":"30","author":"RA Neff 3rd","year":"2009","journal-title":"Acta Pharmacol Sin"},{"key":"ref79","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1016\/S0896-6273(03)00354-4","article-title":"CYFIP\/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.","volume":"38","author":"A Schenck","year":"2003","journal-title":"Neuron"},{"key":"ref80","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/j.cell.2008.10.017","article-title":"The autistic neuron: troubled translation?","volume":"135","author":"RJ Kelleher 3rd","year":"2008","journal-title":"Cell"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1046\/j.1471-4159.2002.00931.x","article-title":"ProSAP\/Shank proteins - a family of higher order organizing molecules of the postsynaptic density with an emerging role in human neurological disease.","volume":"81","author":"TM Boeckers","year":"2002","journal-title":"J Neurochem"},{"key":"ref82","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1038\/nmeth783","article-title":"Determination of absolute protein numbers in single synapses by a GFP-based calibration technique.","volume":"2","author":"Y Sugiyama","year":"2005","journal-title":"Nat Methods"},{"key":"ref83","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.yexcr.2009.10.009","article-title":"Syntrophin-2 is required for eye development in Drosophila.","volume":"316","author":"R Nagai","year":"2010","journal-title":"Exp Cell Res"},{"key":"ref84","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.neuron.2007.12.001","article-title":"Correction of fragile X syndrome in mice.","volume":"56","author":"G Dolen","year":"2007","journal-title":"Neuron"},{"key":"ref85","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1038\/ng.712","article-title":"A de novo paradigm for mental retardation.","volume":"42","author":"LE Vissers","year":"2010","journal-title":"Nat Genet"},{"key":"ref86","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1093\/nar\/gkm076","article-title":"QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.","volume":"35","author":"S Colella","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"ref87","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1101\/gr.6861907","article-title":"PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.","volume":"17","author":"K Wang","year":"2007","journal-title":"Genome Res"},{"key":"ref88","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1111\/j.1471-4159.2004.02910.x","article-title":"C-terminal synaptic targeting elements for postsynaptic density proteins ProSAP1\/Shank2 and ProSAP2\/Shank3.","volume":"92","author":"TM Boeckers","year":"2005","journal-title":"J Neurochem"}],"container-title":["PLoS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1002521","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T05:03:30Z","timestamp":1713503010000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1002521"}},"subtitle":[],"editor":[{"given":"Matthew","family":"State","sequence":"first","affiliation":[]}],"short-title":[],"issued":{"date-parts":[[2012,2,9]]},"references-count":88,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,2,9]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1002521","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.14209959.15721077","asserted-by":"object"}]},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,9]]}}}