{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:27:58Z","timestamp":1792783678592,"version":"4.5.0"},"reference-count":106,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2014,3,1]],"date-time":"2014-03-01T00:00:00Z","timestamp":1393632000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["MH085953"],"award-info":[{"award-number":["MH085953"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"crossref","award":["5 T32 MH082719-04"],"award-info":[{"award-number":["5 T32 MH082719-04"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institutes of Health\/National Institute of Child Health and Human Development Grant","award":["P50-HD-055784"],"award-info":[{"award-number":["P50-HD-055784"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biological Psychiatry"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1016\/j.biopsych.2013.07.019","type":"journal-article","created":{"date-parts":[[2013,8,27]],"date-time":"2013-08-27T23:07:26Z","timestamp":1377644846000},"page":"351-360","source":"Crossref","is-referenced-by-count":186,"title":["The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan"],"prefix":"10.1016","volume":"75","author":[{"given":"Rachel K.","family":"Jonas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline A.","family":"Montojo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie E.","family":"Bearden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.biopsych.2013.07.019_bib1","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelmann","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib2","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/j.ijdevneu.2010.09.007","article-title":"The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders","volume":"29","author":"Drew","year":"2011","journal-title":"Int J Dev Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib3","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/S0140-6736(02)07604-3","article-title":"Schizophrenia and velo-cardio-facial syndrome","volume":"359","author":"Murphy","year":"2002","journal-title":"Lancet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib4","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1002\/(SICI)1096-8628(200021)97:1<45::AID-AJMG6>3.0.CO;2-9","article-title":"Chromosomal abnormalities and schizophrenia","volume":"97","author":"Bassett","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib5","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1097\/CHI.0b013e3181b76683","article-title":"Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 Deletion) syndrome","volume":"48","author":"Green","year":"2009","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib6","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1038\/nrn2841","article-title":"22q11.2 microdeletions: Linking DNA structural variation to brain dysfunction and schizophrenia","volume":"11","author":"Karayiorgou","year":"2010","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib7","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11 deletion syndrome","volume":"138","author":"Bassett","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib8","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":"10.1016\/j.biopsych.2013.07.019_bib9","doi-asserted-by":"crossref","first-page":"16434","DOI":"10.1073\/pnas.0905696106","article-title":"Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion\/DiGeorge syndrome","volume":"106","author":"Meechan","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib10","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1016\/j.amjcard.2010.01.333","article-title":"Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome","volume":"105","author":"Momma","year":"2010","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.biopsych.2013.07.019_bib11","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1024\/1422-4917.32.2.107","article-title":"Chromosome 22q11 deletion syndrome and its relevance for child and adolescent psychiatry. An overview of etiology, physical symptoms, aspects of child development and psychiatric disorders [German]","volume":"32","author":"Briegel","year":"2004","journal-title":"Z Kinder Jugendpsychiatr Psychother"},{"key":"10.1016\/j.biopsych.2013.07.019_bib12","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1007\/s10038-006-0058-5","article-title":"Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia","volume":"51","author":"Arinami","year":"2006","journal-title":"J Hum Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib13","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1001\/archpsyc.56.10.940","article-title":"High rates of schizophrenia in adults with velo-cardio-facial syndrome","volume":"56","author":"Murphy","year":"1999","journal-title":"Arch Gen Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib14","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1097\/WCO.0b013e328352dd58","article-title":"Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome?","volume":"25","author":"Baker","year":"2012","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.biopsych.2013.07.019_bib15","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.tig.2009.10.004","article-title":"Rare structural variants in schizophrenia: One disorder, multiple mutations; one mutation, multiple disorders","volume":"25","author":"Sebat","year":"2009","journal-title":"Trends Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib16","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.jpeds.2012.12.026","article-title":"The longitudinal course of attention deficit\/hyperactivity disorder in velo-cardio-facial syndrome","volume":"163","author":"Antshel","year":"2013","journal-title":"J Pediatr"},{"key":"10.1016\/j.biopsych.2013.07.019_bib17","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.schres.2006.01.019","article-title":"Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications","volume":"84","author":"Debban\u00e9","year":"2006","journal-title":"Schizophr Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib18","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":"Vorstman","year":"2006","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib19","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/j.biopsych.2005.08.028","article-title":"Neuropsychological performance over time in people at high risk of developing schizophrenia and controls","volume":"59","author":"Whyte","year":"2006","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib20","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1176\/appi.ajp.2009.09040574","article-title":"Static and dynamic cognitive deficits in childhood preceding adult schizophrenia: A 30-year study","volume":"167","author":"Reichenberg","year":"2010","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib21","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1016\/j.biopsych.2010.10.027","article-title":"Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): A longitudinal study","volume":"69","author":"Kates","year":"2011","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib22","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1176\/ajp.2007.164.4.663","article-title":"Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome","volume":"164","author":"Gothelf","year":"2007","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib23","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1038\/gim.2012.66","article-title":"Functional outcomes of adults with 22q11.2 deletion syndrome","volume":"14","author":"Butcher","year":"2012","journal-title":"Genet Med"},{"key":"10.1016\/j.biopsych.2013.07.019_bib24","doi-asserted-by":"crossref","first-page":"956","DOI":"10.4065\/73.10.956","article-title":"Childhood-onset schizophrenia associated with parkinsonism in a patient with a microdeletion of chromosome 22","volume":"73","author":"Krahn","year":"1998","journal-title":"Mayo Clin Proc"},{"key":"10.1016\/j.biopsych.2013.07.019_bib25","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/ajmg.a.32650","article-title":"The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome","volume":"149","author":"Zaleski","year":"2009","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib26","doi-asserted-by":"crossref","first-page":"4534","DOI":"10.1073\/pnas.0511340103","article-title":"High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays","volume":"103","author":"Urban","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib27","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1086\/515508","article-title":"Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients","volume":"61","author":"Carlson","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib28","doi-asserted-by":"crossref","first-page":"7612","DOI":"10.1073\/pnas.92.17.7612","article-title":"Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11","volume":"92","author":"Karayiorgou","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib29","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1034\/j.1399-0004.2003.00049.x","article-title":"Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies","volume":"63","author":"Digilio","year":"2003","journal-title":"Clin Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib30","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1073\/pnas.0906222107","article-title":"Evolution in health and medicine Sackler colloquium: Genomic disorders: A window into human gene and genome evolution","volume":"107","author":"Carvalho","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib31","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","article-title":"Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis","volume":"9","author":"Shaikh","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib32","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1038\/35057149","article-title":"A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms","volume":"409","author":"Sachidanandam","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.biopsych.2013.07.019_bib33","doi-asserted-by":"crossref","first-page":"2463","DOI":"10.1093\/hmg\/11.20.2463","article-title":"Epistasis: What it means, what it doesn't mean, and statistical methods to detect it in humans","volume":"11","author":"Cordell","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib34","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1038\/ng.138","article-title":"Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model","volume":"40","author":"Stark","year":"2008","journal-title":"Nat Genet"},{"issue":"suppl","key":"10.1016\/j.biopsych.2013.07.019_bib35","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1038\/ng1803","article-title":"Canalization of development by microRNAs","volume":"38","author":"Hornstein","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib36","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1001\/archpsyc.58.1.64","article-title":"Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: A preliminary study","volume":"58","author":"Eliez","year":"2001","journal-title":"Arch Gen Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib37","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1067\/mpd.2002.124774","article-title":"Language skills in children with velocardiofacial syndrome (deletion 22q11.2)","volume":"140","author":"Glaser","year":"2002","journal-title":"J Pediatr"},{"key":"10.1016\/j.biopsych.2013.07.019_bib38","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1093\/hmg\/ddn307","article-title":"Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome","volume":"17","author":"Bassett","year":"2008","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib39","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1212\/WNL.57.1.141","article-title":"A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease","volume":"57","author":"Riley","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.biopsych.2013.07.019_bib40","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1002\/(SICI)1096-8628(19980605)77:5<356::AID-AJMG3>3.0.CO;2-L","article-title":"Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)]","volume":"77","author":"Ikegawa","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib41","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1007\/s004390100604","article-title":"Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome","volume":"109","author":"Liburd","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib42","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1038\/nn1562","article-title":"Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice","volume":"8","author":"Paterlini","year":"2005","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib43","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1101\/gad.947102","article-title":"DNA methylation patterns and epigenetic memory","volume":"16","author":"Bird","year":"2002","journal-title":"Genes Dev"},{"key":"10.1016\/j.biopsych.2013.07.019_bib44","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/ddrr.9","article-title":"Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome","volume":"14","author":"Gothelf","year":"2008","journal-title":"Dev Disabil Res Revs"},{"key":"10.1016\/j.biopsych.2013.07.019_bib45","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.schres.2009.09.010","article-title":"Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)","volume":"115","author":"Tan","year":"2009","journal-title":"Schizophr Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib46","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1093\/cercor\/bhn064","article-title":"Alterations in midline cortical thickness and gyrification patterns mapped in children with 22q11.2 deletions","volume":"19","author":"Bearden","year":"2008","journal-title":"Cereb Cortex"},{"key":"10.1016\/j.biopsych.2013.07.019_bib47","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.1242\/dev.055392","article-title":"FGF8 acts as a classic diffusible morphogen to pattern the neocortex","volume":"137","author":"Toyoda","year":"2010","journal-title":"Development"},{"key":"10.1016\/j.biopsych.2013.07.019_bib48","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1177\/088307380401900506","article-title":"Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2)","volume":"19","author":"Kates","year":"2004","journal-title":"J Child Neurol"},{"key":"10.1016\/j.biopsych.2013.07.019_bib49","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1097\/01.wnr.0000129855.50780.85","article-title":"Thalamic reductions in children with chromosome 22q11.2 deletion syndrome","volume":"15","author":"Bish","year":"2004","journal-title":"Neuroreport"},{"key":"10.1016\/j.biopsych.2013.07.019_bib50","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.pscychresns.2005.02.003","article-title":"Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome)","volume":"138","author":"Antshel","year":"2005","journal-title":"Psychiatry Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib51","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.brainres.2006.10.082","article-title":"Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome","volume":"1131","author":"Machado","year":"2007","journal-title":"Brain Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib52","doi-asserted-by":"crossref","first-page":"4591","DOI":"10.1242\/dev.129.19.4591","article-title":"An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome","volume":"129","author":"Frank","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.biopsych.2013.07.019_bib53","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1002\/hbm.20405","article-title":"Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome","volume":"28","author":"Gothelf","year":"2007","journal-title":"Hum Brain Mapp"},{"key":"10.1016\/j.biopsych.2013.07.019_bib54","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1007\/s11689-009-9008-9","article-title":"Visuospatial working memory in children and adolescents with 22q11.2 deletion syndrome; an fMRI study","volume":"1","author":"Azuma","year":"2009","journal-title":"J Neurodev Disord"},{"key":"10.1016\/j.biopsych.2013.07.019_bib55","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.neubiorev.2008.09.002","article-title":"Default-mode brain dysfunction in mental disorders: A systematic review","volume":"33","author":"Broyd","year":"2009","journal-title":"Neurosci Biobehav Rev"},{"key":"10.1016\/j.biopsych.2013.07.019_bib56","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.schres.2012.05.021","article-title":"Resting-state networks in adolescents with 22q11.2 deletion syndrome: Associations with prodromal symptoms and executive functions","volume":"139","author":"Debban\u00e9","year":"2012","journal-title":"Schizophr Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib57","doi-asserted-by":"crossref","first-page":"e1000252","DOI":"10.1371\/journal.pgen.1000252","article-title":"Functional polymorphisms in PRODH are associated with risk and protection for schizophrenia and fronto-striatal structure and function","volume":"4","author":"Kempf","year":"2008","journal-title":"PLoS Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib58","doi-asserted-by":"crossref","first-page":"14132","DOI":"10.1523\/JNEUROSCI.1312-12.2012","article-title":"Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia","volume":"32","author":"Earls","year":"2012","journal-title":"J Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib59","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1076\/jcen.23.4.447.1228","article-title":"The neurocognitive phenotype of the 22q11.2 deletion syndrome: Selective deficit in visual-spatial memory","volume":"23","author":"Bearden","year":"2001","journal-title":"J Clin Exp Neuropsychol"},{"key":"10.1016\/j.biopsych.2013.07.019_bib60","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.34.6.453","article-title":"Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS","volume":"34","author":"Swillen","year":"1997","journal-title":"J Med Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib61","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1007\/s10519-011-9468-z","article-title":"Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome","volume":"41","author":"Philip","year":"2011","journal-title":"Behav Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib62","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0920-9964(03)00187-7","article-title":"Neuropsychological deficits in children associated with increased familial risk for schizophrenia","volume":"67","author":"Davalos","year":"2004","journal-title":"Schizophr Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib63","first-page":"333","article-title":"Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: A 3-year follow-up study","volume":"49","author":"Antshel","year":"2010","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib64","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/0006-3223(87)90188-0","article-title":"Neurophysiological assessment of sensory gating in psychiatric inpatients: Comparison between schizophrenia and other diagnoses","volume":"22","author":"Baker","year":"1987","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib65","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1176\/appi.ajp.162.6.1090","article-title":"Lower prepulse inhibition in children with the 22q11 deletion syndrome","volume":"162","author":"Sobin","year":"2005","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib66","doi-asserted-by":"crossref","first-page":"4775","DOI":"10.1093\/hmg\/ddr404","article-title":"Tbx1: Identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model","volume":"20","author":"Hiramoto","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib67","doi-asserted-by":"crossref","first-page":"3489","DOI":"10.1093\/hmg\/dds180","article-title":"Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain","volume":"21","author":"Harper","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib68","doi-asserted-by":"crossref","first-page":"7729","DOI":"10.1073\/pnas.0600206103","article-title":"Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome","volume":"103","author":"Paylor","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib69","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1001\/archgenpsychiatry.2012.169","article-title":"The nature of dopamine dysfunction in schizophrenia and what this means for treatment","volume":"69","author":"Howes","year":"2012","journal-title":"Arch Gen Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib70","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/978-1-59745-205-2_9","article-title":"Epigenetic alterations of the dopaminergic system in major psychiatric disorders","volume":"448","author":"Abdolmaleky","year":"2008","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.biopsych.2013.07.019_bib71","doi-asserted-by":"crossref","first-page":"10196","DOI":"10.1523\/JNEUROSCI.0665-07.2007","article-title":"Site-specific role of catechol-O-methyltransferase in dopamine overflow within prefrontal cortex and dorsal striatum","volume":"27","author":"Yavich","year":"2007","journal-title":"J Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib72","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1086\/425589","article-title":"Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): Effects on mRNA, protein, and enzyme activity in postmortem human brain","volume":"75","author":"Chen","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib73","doi-asserted-by":"crossref","first-page":"6917","DOI":"10.1073\/pnas.111134598","article-title":"Effect of COMT Val108\/158 Met genotype on frontal lobe function and risk for schizophrenia","volume":"98","author":"Egan","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib74","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1017\/S1092852900014863","article-title":"Warriors versus worriers: The role of COMT gene variants","volume":"11","author":"Stein","year":"2006","journal-title":"CNS Spectr"},{"issue":"229","key":"10.1016\/j.biopsych.2013.07.019_bib75","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/sj.mp.4001616","article-title":"Catechol-O-methyl transferase Val158Met gene polymorphism in schizophrenia: Working memory, frontal lobe MRI morphology and frontal cerebral blood flow","volume":"10","author":"Ho","year":"2005","journal-title":"Mol Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib76","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1038\/nn1572","article-title":"COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome","volume":"8","author":"Gothelf","year":"2005","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib77","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1001\/archpsyc.56.10.940","article-title":"High rates of schizophrenia in adults with velo-cardio-facial syndrome","volume":"56","author":"Murphy","year":"1999","journal-title":"Arch Gen Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib78","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1176\/appi.ajp.163.3.537","article-title":"No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome","volume":"163","author":"Glaser","year":"2006","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib79","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1111\/j.1399-0004.2006.00569.x","article-title":"Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome","volume":"69","author":"Shashi","year":"2006","journal-title":"Clin Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib80","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.biopsych.2005.03.020","article-title":"COMT Val108\/158Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome","volume":"58","author":"Baker","year":"2005","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib81","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1038\/nn1572","article-title":"COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome","volume":"8","author":"Gothelf","year":"2005","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib82","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1177\/0269881111400644","article-title":"Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia - relationship with COMT Val108\/158 Met polymorphism, gender and symptomatology","volume":"25","author":"Boot","year":"2011","journal-title":"J Psychopharmacol"},{"key":"10.1016\/j.biopsych.2013.07.019_bib83","doi-asserted-by":"crossref","first-page":"1525","DOI":"10.1177\/0269881109104854","article-title":"Striatal D2 receptor binding in 22q11 deletion syndrome: An [123I]IBZM SPECT study","volume":"24","author":"Boot","year":"2010","journal-title":"J Psychopharmacol"},{"key":"10.1016\/j.biopsych.2013.07.019_bib84","first-page":"246","article-title":"Brain catecholamine metabolism in catechol-O-methyltransferase (COMT)-deficient mice","volume":"15","author":"Huotari","year":"2002"},{"key":"10.1016\/j.biopsych.2013.07.019_bib85","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1002\/ajmg.b.30648","article-title":"PRODH gene is associated with executive function in schizophrenic families","volume":"147B","author":"Li","year":"2008","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib86","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1093\/hmg\/11.19.2243","article-title":"PRODH mutations and hyperprolinemia in a subset of schizophrenic patients","volume":"11","author":"Jacquet","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib87","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1038\/nn1562","article-title":"Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice","volume":"8","author":"Paterlini","year":"2005","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib88","doi-asserted-by":"crossref","first-page":"8709","DOI":"10.1523\/JNEUROSCI.2077-08.2008","article-title":"Genetic dissection of the role of catechol-O-methyltransferase in cognition and stress reactivity in mice","volume":"28","author":"Papaleo","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.biopsych.2013.07.019_bib89","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/npp.2008.132","article-title":"Proline affects brain function in 22q11DS children with the low activity COMT 158 allele","volume":"34","author":"Vorstman","year":"2009","journal-title":"Neuropsychopharmacology"},{"key":"10.1016\/j.biopsych.2013.07.019_bib90","doi-asserted-by":"crossref","first-page":"e25882","DOI":"10.1371\/journal.pone.0025882","article-title":"Proline and COMT status affect visual connectivity in children with 22q11.2 deletion syndrome","volume":"6","author":"Magn\u00e9e","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.biopsych.2013.07.019_bib91","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/S0140-6736(03)12323-9","article-title":"Neuroanatomical abnormalities before and after onset of psychosis: A cross-sectional and longitudinal MRI comparison","volume":"361","author":"Pantelis","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.biopsych.2013.07.019_bib92","doi-asserted-by":"crossref","first-page":"399","DOI":"10.2174\/138161212799316019","article-title":"Neurocognition in the psychosis risk syndrome: A quantitative and qualitative review","volume":"18","author":"Giuliano","year":"2012","journal-title":"Curr Pharm Des"},{"key":"10.1016\/j.biopsych.2013.07.019_bib93","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/j.biopsych.2011.03.012","article-title":"Clinical and genetic high-risk paradigms: Converging paths to psychosis meet in the temporal lobes","volume":"69","author":"Jalbrzikowski","year":"2011","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib94","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1176\/appi.ajp.160.9.1580","article-title":"The schizophrenia phenotype in 22q11 deletion syndrome","volume":"160","author":"Bassett","year":"2003","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib95","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1192\/bjp.bp.111.097139","article-title":"Cognitive development in children with 22q11.2 deletion syndrome","volume":"200","author":"Duijff","year":"2012","journal-title":"Br J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib96","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1016\/j.schres.2006.04.007","article-title":"Neurocognitive profile in 22q11 deletion syndrome and schizophrenia","volume":"87","author":"Chow","year":"2006","journal-title":"Schizophr Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib97","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.schres.2003.10.004","article-title":"Cognitive deficits associated with schizophrenia in velo-cardio-facial syndrome","volume":"70","author":"van Amelsvoort","year":"2004","journal-title":"Schizophr Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib98","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1192\/bjp.167.6.786","article-title":"Obstetric complications and schizophrenia: A meta-analysis","volume":"167","author":"Geddes","year":"1995","journal-title":"Br J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib99","doi-asserted-by":"crossref","first-page":"163","DOI":"10.2174\/2210676611202020163","article-title":"Environmental risk and protective factors and their influence on the emergence of psychosis","volume":"2","author":"Schlosser","year":"2012","journal-title":"Adolesc Psychiatry (Hilversum)"},{"key":"10.1016\/j.biopsych.2013.07.019_bib100","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s11689-010-9069-9","article-title":"How might stress contribute to increased risk for schizophrenia in children with chromosome 22q11.2 deletion syndrome?","volume":"3","author":"Beaton","year":"2011","journal-title":"J Neurodev Disord"},{"key":"10.1016\/j.biopsych.2013.07.019_bib101","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1001\/archgenpsychiatry.2010.66","article-title":"Neuropsychology of the prodrome to psychosis in the NAPLS consortium: Relationship to family history and conversion to psychosis","volume":"67","author":"Seidman","year":"2010","journal-title":"Arch Gen Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib102","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1101\/gr.5986507","article-title":"Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms","volume":"17","author":"Shaikh","year":"2007","journal-title":"Genome Res"},{"key":"10.1016\/j.biopsych.2013.07.019_bib103","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.ridd.2008.10.007","article-title":"Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome","volume":"30","author":"Niklasson","year":"2009","journal-title":"Res Dev Disabil"},{"key":"10.1016\/j.biopsych.2013.07.019_bib104","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1176\/appi.ajp.2010.09101463","article-title":"Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome","volume":"167","author":"Fung","year":"2010","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.biopsych.2013.07.019_bib105","doi-asserted-by":"crossref","first-page":"4447","DOI":"10.1073\/pnas.1101219108","article-title":"Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex","volume":"108","author":"Fenelon","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.biopsych.2013.07.019_bib106","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1176\/appi.ajp.160.4.636","article-title":"The endophenotype concept in psychiatry: Etymology and strategic intentions","volume":"160","author":"Gottesman","year":"2003","journal-title":"Am J Psychiatry"}],"container-title":["Biological Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006322313006720?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006322313006720?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,3,4]],"date-time":"2022-03-04T19:00:30Z","timestamp":1646420430000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006322313006720"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3]]},"references-count":106,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["S0006322313006720"],"URL":"https:\/\/doi.org\/10.1016\/j.biopsych.2013.07.019","relation":{},"ISSN":["0006-3223"],"issn-type":[{"value":"0006-3223","type":"print"}],"subject":[],"published":{"date-parts":[[2014,3]]}}}