{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T02:35:16Z","timestamp":1793932516301,"version":"4.8.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100014370","name":"Simons Foundation Autism Research Initiative","doi-asserted-by":"publisher","award":["SFARI 303241"],"award-info":[{"award-number":["SFARI 303241"]}],"id":[{"id":"10.13039\/100014370","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000276","name":"Department of Health and Social Care","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000276","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100019896","name":"Ministrstvo za zdravje","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100019896","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01MH101221"],"award-info":[{"award-number":["R01MH101221"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["biologicalpsychiatryjournal.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biological Psychiatry"],"published-print":{"date-parts":[[2019,2]]},"DOI":"10.1016\/j.biopsych.2018.02.1173","type":"journal-article","created":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T19:45:07Z","timestamp":1521143107000},"page":"287-297","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":158,"title":["Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP"],"prefix":"10.1016","volume":"85","author":[{"given":"Anke","family":"Van Dijck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneke T.","family":"Vulto-van Silfhout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Cappuyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse M.","family":"van der Werf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grazia M.","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6840-965X","authenticated-orcid":false,"given":"Andreas","family":"Tzschach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1854-2804","authenticated-orcid":false,"given":"Raphael","family":"Bernier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9796-2430","authenticated-orcid":false,"given":"Illana","family":"Gozes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evan E.","family":"Eichler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1049-0683","authenticated-orcid":false,"given":"Corrado","family":"Romano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5602","authenticated-orcid":false,"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Nordgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhura","family":"Bakshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yemina","family":"Berman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Fransen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Helsmoortel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenneke","family":"Van den Ende","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Van der Aa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina J.","family":"van de Wijdeven","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Rosenblum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fab\u00edola","family":"Monteiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"Quercia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Bowdin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Dyment","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebba","family":"Alkhunaizi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne E.","family":"Boonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurelia","family":"Jacquette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephane","family":"Bezieau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelika","family":"Rie\u00df","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Moog","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terri","family":"McVeigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Elpeleg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie Falkenberg","family":"Smeland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine","family":"Fannemel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arie","family":"van Haeringen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saskia M.","family":"Maas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.E.","family":"Veenstra-Knol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meyke","family":"Schouten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolein H.","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo L.","family":"Marcelis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Ockeloen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineke","family":"van der Burgt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"Feenstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasper","family":"van der Smagt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Jezela-Stanek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata","family":"Krajewska-Walasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domingo","family":"Gonz\u00e1lez-Lamu\u00f1o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Britt-Marie","family":"Anderlid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Malmgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magnus","family":"Nordenskj\u00f6ld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Clement","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay","family":"Metcalfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Lachlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura G.","family":"Hendon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A.","family":"Abdulrahman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Morrow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clare","family":"McMillan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Gerdts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Peeden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha A.","family":"Schrier Vergano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Valentino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jillian R.","family":"Ozmore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Bedrosian-Sermone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Dennis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayla","family":"Treat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan Starling","family":"Hughes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Safina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Le Pichon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"McGuire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Infante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan-Khetarpal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Desai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Benke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyson","family":"Krokosky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Cristian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Gripp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly A.","family":"Stessman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Eichenberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parul","family":"Jayakar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Pizzino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie Ann","family":"Manning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah","family":"Slattery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malin","family":"Kvarnung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B.A.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije E.","family":"Meuwissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6262-6522","authenticated-orcid":false,"given":"Geert","family":"Vandeweyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Frank","family":"Kooy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.biopsych.2018.02.1173_bib1","series-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"American Psychiatric Association","year":"2013"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib2","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1146\/annurev-publhealth-031816-044318","article-title":"The changing epidemiology of autism spectrum disorders","volume":"38","author":"Lyall","year":"2016","journal-title":"Annu Rev Public Health"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib3","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1038\/ng.3039","article-title":"Most genetic risk for autism resides with common variation","volume":"46","author":"Gaugler","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib4","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/nature13908","article-title":"The contribution of de novo coding mutations to autism spectrum disorder","volume":"515","author":"Iossifov","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib5","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1038\/nature13772","article-title":"Synaptic, transcriptional and chromatin genes disrupted in autism","volume":"515","author":"De Rubeis","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib6","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/nature21062","article-title":"Prevalence and architecture of de novo mutations in developmental disorders","volume":"542","author":"Study","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib7","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib8","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.tins.2013.11.005","article-title":"A\u00a0de novo convergence of autism genetics and molecular neuroscience","volume":"37","author":"Krumm","year":"2014","journal-title":"Trends Neurosci"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib9","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.conb.2010.08.009","article-title":"The genetics of neurodevelopmental disease","volume":"21","author":"Mitchell","year":"2011","journal-title":"Curr Opin Neurobiol"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib10","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/nn.4205","article-title":"Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease","volume":"19","author":"Johnson","year":"2016","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib11","doi-asserted-by":"crossref","first-page":"477","DOI":"10.3389\/fnins.2015.00477","article-title":"Mutations and modeling of the chromatin remodeler CHD8 define an emerging autism etiology","volume":"9","author":"Barnard","year":"2015","journal-title":"Front Neurosci"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib12","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.cell.2014.06.017","article-title":"Disruptive CHD8 mutations define a subtype of autism early in development","volume":"158","author":"Bernier","year":"2014","journal-title":"Cell"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib13","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1038\/mp.2015.5","article-title":"Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID","volume":"21","author":"van Bon","year":"2016","journal-title":"Mol Psychiatry"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib14","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13073-016-0278-z","article-title":"Molecular subtyping and improved treatment of neurodevelopmental disease","volume":"8","author":"Stessman","year":"2016","journal-title":"Genome Med"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib15","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1074\/jbc.M007416200","article-title":"Cloning and characterization of the human activity-dependent neuroprotective protein","volume":"276","author":"Zamostiano","year":"2001","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib16","doi-asserted-by":"crossref","first-page":"e15894","DOI":"10.1371\/journal.pone.0015894","article-title":"HP1 recruits activity-dependent neuroprotective protein to H3K9me3 marked pericentromeric heterochromatin for silencing of major satellite repeats","volume":"6","author":"Mosch","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib17","doi-asserted-by":"crossref","first-page":"34448","DOI":"10.1074\/jbc.M704756200","article-title":"Activity-dependent neuroprotective protein constitutes a novel element in the SWI\/SNF chromatin remodeling complex","volume":"282","author":"Mandel","year":"2007","journal-title":"J\u00a0Biol Chem"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib18","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/S0165-3806(03)00162-7","article-title":"Activity-dependent neuroprotective protein: A novel gene essential for brain formation","volume":"144","author":"Pinhasov","year":"2003","journal-title":"Brain Res Dev Brain Res"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib19","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1038\/ng.2899","article-title":"A\u00a0SWI\/SNF-related autism syndrome caused by de novo mutations in ADNP","volume":"46","author":"Helsmoortel","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib20","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1136\/jmedgenet-2014-102444","article-title":"Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein","volume":"51","author":"Pescosolido","year":"2014","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib21","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ajmg.c.31413","article-title":"The transcriptional regulator ADNP links the BAF (SWI\/SNF) complexes with autism","volume":"166","author":"Vandeweyer","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib22","doi-asserted-by":"crossref","first-page":"1647","DOI":"10.1002\/ajmg.a.37641","article-title":"Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene","volume":"170","author":"Krajewska-Walasek","year":"2016","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib23","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1007\/s12031-015-0586-6","article-title":"The compassionate side of neuroscience: Tony Sermone's undiagnosed genetic journey\u2014ADNP mutation","volume":"56","author":"Gozes","year":"2015","journal-title":"J\u00a0Mol Neurosci"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib24","unstructured":"ADNP Syndrome Parents Group. Available at: https:\/\/www.facebook.com\/groups\/ADNPkids\/. Accessed July 1, 2016."},{"key":"10.1016\/j.biopsych.2018.02.1173_bib25","series-title":"qvalue: Q-value estimation for false discovery rate control","author":"Dabney","year":"2016"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib26","series-title":"R: A language and environment for statistical computing","author":"R Development Core Team","year":"2016"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib27","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1111\/j.1651-2227.2006.tb02379.x","article-title":"WHO Motor Development Study: Windows of achievement for\u00a0six gross motor development milestones","volume":"450","author":"World Health Organization Multicentre Growth Reference Study Group","year":"2006","journal-title":"Acta Paediatr Suppl"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib28","unstructured":"World Health Organization (2017): The WHO child growth standards. Available at: http:\/\/www.who.int\/childgrowth\/en. Accessed January 31, 2017."},{"key":"10.1016\/j.biopsych.2018.02.1173_bib29","doi-asserted-by":"crossref","first-page":"e1043","DOI":"10.1038\/tp.2017.27","article-title":"Premature primary tooth eruption in cognitive\/motor-delayed ADNP-mutated children","volume":"7","author":"Gozes","year":"2017","journal-title":"Transl Psychiatry"},{"key":"10.1016\/j.biopsych.2018.02.1173_bib30","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/s12031-015-0640-4","article-title":"ADNP\/ADNP2 expression in oligodendrocytes: Implication for myelin-related neurodevelopment","volume":"57","author":"Malishkevich","year":"2015","journal-title":"J\u00a0Mol Neurosci"}],"container-title":["Biological Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006322318313039?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006322318313039?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T16:01:15Z","timestamp":1762099275000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006322318313039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["S0006322318313039"],"URL":"https:\/\/doi.org\/10.1016\/j.biopsych.2018.02.1173","relation":{},"ISSN":["0006-3223"],"issn-type":[{"value":"0006-3223","type":"print"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP","name":"articletitle","label":"Article Title"},{"value":"Biological Psychiatry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.biopsych.2018.02.1173","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}