{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T23:12:09Z","timestamp":1773702729577,"version":"3.50.1"},"reference-count":19,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2019,1]]},"DOI":"10.1016\/j.ejmg.2018.05.003","type":"journal-article","created":{"date-parts":[[2018,5,22]],"date-time":"2018-05-22T09:08:25Z","timestamp":1526980105000},"page":"55-60","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"title":["De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder"],"prefix":"10.1016","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3779-0451","authenticated-orcid":false,"given":"Wei","family":"Shen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patti","family":"Krautscheid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey M.","family":"Rutz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pinar","family":"Bayrak-Toydemir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah L.","family":"Dugan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.ejmg.2018.05.003_bib1","doi-asserted-by":"crossref","first-page":"8369","DOI":"10.1074\/jbc.M110.203380","article-title":"Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism","volume":"286","author":"An","year":"2011","journal-title":"J. Biol. Chem."},{"issue":"6","key":"10.1016\/j.ejmg.2018.05.003_bib2","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The genotype-tissue expression (GTEx) project","volume":"45","author":"Consortium","year":"2013","journal-title":"Nat. Genet."},{"issue":"20","key":"10.1016\/j.ejmg.2018.05.003_bib3","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","article-title":"Diagnostic exome sequencing in persons with severe intellectual disability","volume":"367","author":"de Ligt","year":"2012","journal-title":"N. Engl. J. Med."},{"issue":"7526","key":"10.1016\/j.ejmg.2018.05.003_bib4","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"},{"issue":"7642","key":"10.1016\/j.ejmg.2018.05.003_bib5","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":"Deciphering Developmental Disorders","year":"2017","journal-title":"Nature"},{"issue":"9","key":"10.1016\/j.ejmg.2018.05.003_bib6","doi-asserted-by":"crossref","first-page":"1842","DOI":"10.1016\/j.bbagen.2015.05.013","article-title":"Kinetic characterization of human histone H3 lysine 36 methyltransferases, ASH1L and SETD2","volume":"1850","author":"Eram","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"issue":"1","key":"10.1016\/j.ejmg.2018.05.003_bib7","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.ajhg.2017.11.013","article-title":"Histone lysine methylases and demethylases in the landscape of human developmental disorders","volume":"102","author":"Faundes","year":"2018","journal-title":"Am. J. Hum. Genet."},{"issue":"24","key":"10.1016\/j.ejmg.2018.05.003_bib8","doi-asserted-by":"crossref","first-page":"8466","DOI":"10.1128\/MCB.00993-07","article-title":"Mammalian ASH1L is a histone methyltransferase that occupies the transcribed region of active genes","volume":"27","author":"Gregory","year":"2007","journal-title":"Mol. Cell Biol."},{"issue":"6265","key":"10.1016\/j.ejmg.2018.05.003_bib9","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1126\/science.aac9396","article-title":"De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies","volume":"350","author":"Homsy","year":"2015","journal-title":"Science"},{"issue":"7","key":"10.1016\/j.ejmg.2018.05.003_bib10","doi-asserted-by":"crossref","DOI":"10.3390\/ijms18071404","article-title":"Histone lysine methylation and neurodevelopmental disorders","volume":"18","author":"Kim","year":"2017","journal-title":"Int. J. Mol. Sci."},{"issue":"10","key":"10.1016\/j.ejmg.2018.05.003_bib11","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006864","article-title":"Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder","volume":"13","author":"Koemans","year":"2017","journal-title":"PLoS Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2018.05.003_bib12","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1038\/ng.3303","article-title":"Excess of rare, inherited truncating mutations in autism","volume":"47","author":"Krumm","year":"2015","journal-title":"Nat. Genet."},{"issue":"7495","key":"10.1016\/j.ejmg.2018.05.003_bib13","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1038\/nature13185","article-title":"Transcriptional landscape of the prenatal human brain","volume":"508","author":"Miller","year":"2014","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.ejmg.2018.05.003_bib14","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1002\/ajmg.a.38193","article-title":"Novel MCA\/ID syndrome with ASH1L mutation","volume":"173","author":"Okamoto","year":"2017","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2018.05.003_bib15","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1038\/nn.4524","article-title":"Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder","volume":"20","author":"RK","year":"2017","journal-title":"Nat. Neurosci."},{"issue":"4","key":"10.1016\/j.ejmg.2018.05.003_bib16","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."},{"issue":"5","key":"10.1016\/j.ejmg.2018.05.003_bib17","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.ajhg.2017.03.010","article-title":"Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability","volume":"100","author":"Tatton-Brown","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.05.003_bib18","doi-asserted-by":"crossref","first-page":"13316","DOI":"10.1038\/ncomms13316","article-title":"De novo genic mutations among a Chinese autism spectrum disorder cohort","volume":"7","author":"Wang","year":"2016","journal-title":"Nat. Commun."},{"issue":"7","key":"10.1016\/j.ejmg.2018.05.003_bib19","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1158\/2159-8290.CD-16-0058","article-title":"ASH1L links histone H3 lysine 36 dimethylation to MLL leukemia","volume":"6","author":"Zhu","year":"2016","journal-title":"Canc. Discov."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217308789?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217308789?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:46:27Z","timestamp":1761709587000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217308789"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["S1769721217308789"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.05.003","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2019,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.05.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}