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disorders"},{"issue":"7487","key":"ref77","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nature12929","article-title":"De novo mutations in schizophrenia implicate synaptic networks","volume":"506","author":"M Fromer","year":"2014","journal-title":"Nature"},{"issue":"1","key":"ref78","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/s41398-018-0113-y","article-title":"An examination of multiple classes of rare variants in extended families with bipolar disorder","volume":"8","author":"C Toma","year":"2018","journal-title":"Translational psychiatry"},{"issue":"10","key":"ref79","doi-asserted-by":"crossref","first-page":"e1001154","DOI":"10.1371\/journal.pgen.1001154","article-title":"Characterising and predicting haploinsufficiency in the human genome","volume":"6","author":"N Huang","year":"2010","journal-title":"PLoS genetics"},{"key":"ref80","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.bandl.2017.07.005","article-title":"Common variation in the autism risk gene CNTNAP2, brain structural connectivity and multisensory speech integration","volume":"174","author":"LA Ross","year":"2017","journal-title":"Brain and language"},{"issue":"2","key":"ref81","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1097\/YPG.0b013e32835d6fc6","article-title":"Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2","volume":"23","author":"C Toma","year":"2013","journal-title":"Psychiatric genetics"},{"issue":"3","key":"ref82","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1007\/s00702-015-1458-5","article-title":"CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches","volume":"123","author":"AM Werling","year":"2016","journal-title":"J Neural Transm (Vienna)"},{"issue":"2","key":"ref83","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/aur.1662","article-title":"Lack of replication of previous autism spectrum disorder GWAS hits in European populations","volume":"10","author":"B Torrico","year":"2017","journal-title":"Autism Res"},{"issue":"1","key":"ref84","doi-asserted-by":"crossref","first-page":"e1004852","DOI":"10.1371\/journal.pgen.1004852","article-title":"No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins","volume":"11","author":"JD Murdoch","year":"2015","journal-title":"PLoS genetics"},{"issue":"11","key":"ref85","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1093\/hmg\/ddy102","article-title":"Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons","volume":"27","author":"G Canali","year":"2018","journal-title":"Human molecular genetics"},{"issue":"4","key":"ref86","doi-asserted-by":"crossref","first-page":"e1004219","DOI":"10.1371\/journal.pcbi.1004219","article-title":"MAGMA: generalized gene-set analysis of GWAS data","volume":"11","author":"CA de Leeuw","year":"2015","journal-title":"PLoS computational biology"},{"key":"ref87","article-title":"Discovery Of The First Genome-Wide Significant Risk Loci For ADHD","author":"D Demontis","year":"2017","journal-title":"bioRxiv"},{"key":"ref88","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s13229-017-0137-9","article-title":"Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia","volume":"8","year":"2017","journal-title":"Molecular autism"},{"issue":"4","key":"ref89","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/mp.2012.21","article-title":"A mega-analysis of genome-wide association studies for major depressive disorder","volume":"18","author":"S Ripke","year":"2013","journal-title":"Molecular psychiatry"},{"issue":"7510","key":"ref90","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/nature13595","article-title":"Biological insights from 108 schizophrenia-associated genetic loci","volume":"511","year":"2014","journal-title":"Nature"},{"key":"ref91","article-title":"Genomewide association study identifies 30 loci associated with bipolar disorder","author":"E Stahl","year":"2017","journal-title":"bioRxiv"},{"issue":"5","key":"ref92","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1038\/mp.2017.154","article-title":"Revealing the complex genetic architecture of obsessive-compulsive disorder using meta-analysis","volume":"23","year":"2018","journal-title":"Molecular psychiatry"},{"issue":"9","key":"ref93","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1176\/appi.ajp.2017.16121402","article-title":"Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa","volume":"174","author":"L Duncan","year":"2017","journal-title":"The American journal of psychiatry"},{"issue":"3","key":"ref94","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"S Purcell","year":"2007","journal-title":"American journal of human genetics"},{"issue":"5","key":"ref95","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1093\/molbev\/msw005","article-title":"267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation","volume":"33","author":"J Dopazo","year":"2016","journal-title":"Molecular biology and evolution"},{"issue":"7574","key":"ref96","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1038\/nature14666","article-title":"Non-coding recurrent mutations in chronic lymphocytic leukaemia","volume":"526","author":"XS Puente","year":"2015","journal-title":"Nature"},{"issue":"7","key":"ref97","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1038\/mp.2013.106","article-title":"Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations","volume":"19","author":"C Toma","year":"2014","journal-title":"Molecular psychiatry"},{"issue":"2","key":"ref98","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/mp.2015.40","article-title":"Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database","volume":"21","author":"J Li","year":"2016","journal-title":"Molecular psychiatry"},{"issue":"D1","key":"ref99","doi-asserted-by":"crossref","first-page":"D804","DOI":"10.1093\/nar\/gkw865","article-title":"denovo-db: a compendium of human de novo variants","volume":"45","author":"TN Turner","year":"2017","journal-title":"Nucleic acids research"},{"issue":"5","key":"ref100","doi-asserted-by":"crossref","first-page":"1084","DOI":"10.1086\/301826","article-title":"A susceptibility locus for bipolar affective disorder on chromosome 4q35","volume":"62","author":"LJ Adams","year":"1998","journal-title":"Am J Hum Genet"},{"issue":"1","key":"ref101","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1002\/ajmg.b.10023","article-title":"Genetic refinement and physical mapping of a 2.3 Mb probable disease region associated with a bipolar affective disorder susceptibility locus on chromosome 4q35","volume":"117","author":"RF Badenhop","year":"2003","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"5","key":"ref102","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1016\/j.biopsych.2009.10.022","article-title":"Two-Dimensional Genome Scan Identifies Multiple Genetic Interactions in Bipolar Affective Disorder","volume":"67","author":"JM Fullerton","year":"2010","journal-title":"Biol Psychiatry"},{"issue":"4","key":"ref103","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1097\/YPG.0b013e3282fa1861","article-title":"Genome screen of 15 Australian bipolar affective disorder pedigrees supports previously identified loci for bipolar susceptibility genes","volume":"18","author":"JM Fullerton","year":"2008","journal-title":"Psychiatr Genet"},{"issue":"5","key":"ref104","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1038\/sj.mp.4002146","article-title":"A genome screen of 35 bipolar affective disorder pedigrees provides significant evidence for a susceptibility locus on chromosome 15q25-26","volume":"14","author":"EZ McAuley","year":"2009","journal-title":"Mol Psychiatry"},{"key":"ref105","unstructured":"National Institute of Mental Health. NIMH Genetics Initiative: Family Interview for Genetic Studies (FIGS). Rockville, MD1992."},{"issue":"11","key":"ref106","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1001\/archpsyc.1994.03950110009002","article-title":"Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative","volume":"51","author":"JI Nurnberger Jr.","year":"1994","journal-title":"Archives of general psychiatry"}],"updated-by":[{"DOI":"10.1371\/journal.pgen.1007535","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2019,1,8]],"date-time":"2019-01-08T00:00:00Z","timestamp":1546905600000}}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1007535","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,8]],"date-time":"2020-05-08T17:29:47Z","timestamp":1588958987000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1007535"}},"subtitle":[],"editor":[{"given":"Gregory S.","family":"Barsh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2018,12,26]]},"references-count":106,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2018,12,26]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1007535","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/363846","asserted-by":"object"}]},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,26]]}}}