{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:36:44Z","timestamp":1790768204895,"version":"4.1.0"},"reference-count":49,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,11,7]],"date-time":"2021-11-07T00:00:00Z","timestamp":1636243200000},"content-version":"vor","delay-in-days":190,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 HD096326"],"award-info":[{"award-number":["R01 HD096326"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 MH106826"],"award-info":[{"award-number":["R01 MH106826"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2021,5]]},"DOI":"10.1016\/j.ajhg.2021.03.017","type":"journal-article","created":{"date-parts":[[2021,4,2]],"date-time":"2021-04-02T10:34:02Z","timestamp":1617359642000},"page":"929-941","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Haploinsufficiency of the Sin3\/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability\/autism spectrum disorder"],"prefix":"10.1016","volume":"108","author":[{"given":"Xenia","family":"Latypova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Moll\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oluwadamilare A.","family":"Adebambo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Fourgeux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahir N.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Caro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Rosello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Orellana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitriy","family":"Niyazov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Lederer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Deprez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yline","family":"Capri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kannu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne Claude","family":"Tabet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmelien","family":"Aten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolette","family":"den Hollander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miranda","family":"Splitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jagdeep","family":"Walia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ladonna L.","family":"Immken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pawel","family":"Stankiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsty","family":"McWalter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Suchy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond J.","family":"Louie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Bell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E.","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Rousseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Willem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Retiere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang-Jiao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamran","family":"Moradkhani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sol\u00e8ne","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas","family":"Katsanis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"B\u00e9zieau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremie","family":"Poschmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica E.","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2021.03.017_bib1","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1159\/000448747","article-title":"Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes","volume":"7","author":"Izumi","year":"2016","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ajhg.2021.03.017_bib2","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1097\/WCO.0000000000000069","article-title":"The developmental transcriptome of the human brain: implications for neurodevelopmental disorders","volume":"27","author":"Tebbenkamp","year":"2014","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.ajhg.2021.03.017_bib3","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1152\/jn.00067.2017","article-title":"Transcribing the connectome: roles for transcription factors and chromatin regulators in activity-dependent synapse development","volume":"118","author":"Chen","year":"2017","journal-title":"J.\u00a0Neurophysiol."},{"key":"10.1016\/j.ajhg.2021.03.017_bib4","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/cge.13365","article-title":"Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms","volume":"95","author":"Larizza","year":"2019","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib5","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/B978-0-12-800977-2.00006-1","article-title":"Epigenetic factors in intellectual disability: the Rubinstein-Taybi syndrome as a paradigm of neurodevelopmental disorder with epigenetic origin","volume":"128","author":"Lopez-Atalaya","year":"2014","journal-title":"Prog. Mol. Biol. Transl. Sci."},{"key":"10.1016\/j.ajhg.2021.03.017_bib6","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1101\/gr.190629.115","article-title":"The Mendelian disorders of the epigenetic machinery","volume":"25","author":"Bjornsson","year":"2015","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2021.03.017_bib7","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/30764","article-title":"Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex","volume":"393","author":"Nan","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.03.017_bib8","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S0092-8674(00)80216-0","article-title":"Histone deacetylases and SAP18, a novel polypeptide, are components of a human Sin3 complex","volume":"89","author":"Zhang","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.03.017_bib9","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/S0092-8674(00)81531-7","article-title":"Sin meets NuRD and other tails of repression","volume":"99","author":"Knoepfler","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.03.017_bib10","doi-asserted-by":"crossref","first-page":"9461","DOI":"10.1074\/jbc.275.13.9461","article-title":"The co-repressor mSin3A is a functional component of the REST-CoREST repressor complex","volume":"275","author":"Grimes","year":"2000","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2021.03.017_bib11","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.ejcb.2013.09.001","article-title":"Sin3: insight into its transcription regulatory functions","volume":"92","author":"Kadamb","year":"2013","journal-title":"Eur. J. Cell Biol."},{"key":"10.1016\/j.ajhg.2021.03.017_bib12","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.molcel.2008.10.015","article-title":"A role for mammalian Sin3 in permanent gene silencing","volume":"32","author":"van Oevelen","year":"2008","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2021.03.017_bib13","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1128\/MCB.22.8.2743-2750.2002","article-title":"Identification of mammalian Sds3 as an integral component of the Sin3\/histone deacetylase corepressor complex","volume":"22","author":"Alland","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2021.03.017_bib14","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/S0092-8674(00)80215-9","article-title":"Histone deacetylases associated with the mSin3 corepressor mediate mad transcriptional repression","volume":"89","author":"Laherty","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.03.017_bib15","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1038\/ng.3619","article-title":"Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity","volume":"48","author":"Witteveen","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib16","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1002\/ajmg.a.32748","article-title":"Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?","volume":"149A","author":"Aten","year":"2009","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2021.03.017_bib17","doi-asserted-by":"crossref","first-page":"e501","DOI":"10.1016\/j.ejmg.2011.05.004","article-title":"A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation","volume":"54","author":"Bens","year":"2011","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib18","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.03.017_bib19","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/76074","article-title":"Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination","volume":"25","author":"Gripp","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib20","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1016\/j.ajhg.2016.09.022","article-title":"Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis","volume":"99","author":"Cheong","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib21","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1136\/jmedgenet-2016-103964","article-title":"High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing","volume":"54","author":"Mart\u00ednez","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib22","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2021.03.017_bib23","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/j.ajhg.2019.03.018","article-title":"A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development","volume":"104","author":"De Franco","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib24","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1016\/j.ajhg.2019.03.017","article-title":"A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly","volume":"104","author":"Kruszka","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib25","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ajhg.2020.05.017","article-title":"De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay","volume":"107","author":"Vissers","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib26","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1002\/dvdy.24581","article-title":"Zebrafish sin3b mutants are viable but have size, skeletal, and locomotor defects","volume":"246","author":"Moravec","year":"2017","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ajhg.2021.03.017_bib27","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/ng.3743","article-title":"SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome","volume":"49","author":"Shaw","year":"2017","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib28","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng.757","article-title":"Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome","volume":"43","author":"Rooryck","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib29","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/j.ajhg.2012.12.011","article-title":"Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus","volume":"92","author":"Beunders","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib30","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.ajhg.2017.08.014","article-title":"Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features","volume":"101","author":"Stankiewicz","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib31","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.ajhg.2017.01.003","article-title":"De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder","volume":"100","author":"K\u00fcry","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib32","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1136\/jmedgenet-2016-104296","article-title":"A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis","volume":"54","author":"Frosk","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib33","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1016\/j.ajhg.2015.10.014","article-title":"Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type","volume":"97","author":"Isrie","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib34","doi-asserted-by":"crossref","first-page":"e47394","DOI":"10.1371\/journal.pone.0047394","article-title":"Skeletogenic fate of zebrafish cranial and trunk neural crest","volume":"7","author":"Kague","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2021.03.017_bib35","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/j.ajhg.2019.04.002","article-title":"Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features","volume":"104","author":"Ansar","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib36","first-page":"e50338","article-title":"In\u00a0vivo modeling of the morbid human genome using Danio rerio","volume":"78","author":"Niederriter","year":"2013","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2021.03.017_bib37","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/nature11247","article-title":"An integrated encyclopedia of DNA elements in the human genome","volume":"489","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.03.017_bib38","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1038\/nature14248","article-title":"Integrative analysis of 111 reference human epigenomes","volume":"518","author":"Kundaje","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.03.017_bib39","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1038\/s41593-018-0253-7","article-title":"A histone acetylome-wide association study of Alzheimer\u2019s disease identifies disease-associated H3K27ac differences in the entorhinal cortex","volume":"21","author":"Marzi","year":"2018","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2021.03.017_bib40","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1016\/j.cell.2016.10.031","article-title":"Histone Acetylome-wide Association Study of Autism Spectrum Disorder","volume":"167","author":"Sun","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2021.03.017_bib41","doi-asserted-by":"crossref","first-page":"2797","DOI":"10.1016\/j.celrep.2018.11.024","article-title":"The HDAC-Associated Sin3B Protein Represses DREAM Complex Targets and Cooperates with APC\/C to Promote Quiescence","volume":"25","author":"Bainor","year":"2018","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2021.03.017_bib42","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1038\/nbt.2596","article-title":"Uniform, optimal signal processing of mapped deep-sequencing data","volume":"31","author":"Kumar","year":"2013","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.ajhg.2021.03.017_bib43","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ajhg.2015.04.002","article-title":"A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology","volume":"96","author":"Migliavacca","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib44","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1038\/ejhg.2012.240","article-title":"Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4","volume":"21","author":"Villavicencio-Lorini","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib45","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1002\/ajmg.a.36542","article-title":"Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals","volume":"164A","author":"Wheeler","year":"2014","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2021.03.017_bib46","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/jmedgenet-2012-100921","article-title":"X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face","volume":"49","author":"Harakalova","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2021.03.017_bib47","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/nature11316","article-title":"HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle","volume":"489","author":"Deardorff","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2021.03.017_bib48","doi-asserted-by":"crossref","first-page":"7876","DOI":"10.1073\/pnas.0902750106","article-title":"Histone deacetylases 1 and 2 control the progression of neural precursors to neurons during brain development","volume":"106","author":"Montgomery","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2021.03.017_bib49","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1073\/pnas.0710285105","article-title":"Specific requirement of the chromatin modifier mSin3B in cell cycle exit and cellular differentiation","volume":"105","author":"David","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929721001014?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929721001014?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:21:30Z","timestamp":1757575290000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929721001014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":49,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["S0002929721001014"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.03.017","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2021,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Haploinsufficiency of the Sin3\/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability\/autism spectrum disorder","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2021.03.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}