{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T03:21:20Z","timestamp":1779160880077,"version":"3.51.4"},"reference-count":14,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Basic Science Research Program"},{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"publisher","award":["2014R1A1A1007569"],"award-info":[{"award-number":["2014R1A1A1007569"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2016,4]]},"DOI":"10.1016\/j.ejmg.2016.02.005","type":"journal-article","created":{"date-parts":[[2016,2,9]],"date-time":"2016-02-09T13:16:28Z","timestamp":1455023788000},"page":"210-214","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication"],"prefix":"10.1016","volume":"59","author":[{"given":"Cha Gon","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eunhae","family":"Cho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Min","family":"Ahn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2016.02.005_bib1","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1002\/ajmg.a.34434","article-title":"Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies","volume":"158a","author":"Chen","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2016.02.005_bib2","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1002\/ajmg.a.32662","article-title":"Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3","volume":"149a","author":"Dallapiccola","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2016.02.005_bib3","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ejmg.2012.09.005","article-title":"Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype","volume":"56","author":"Demeer","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.005_bib4","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.ejmg.2005.10.131","article-title":"European cytogeneticists association register of unbalanced chromosome aberrations (ECARUCA); an online database for rare chromosome abnormalities","volume":"49","author":"Feenstra","year":"2006","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.005_bib5","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1086\/507471","article-title":"Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation","volume":"79","author":"Friedman","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2016.02.005_bib6","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1089\/gte.1999.3.243","article-title":"Disease genes and chromosomes: disease maps of the human genome. Chromosome 16","volume":"3","author":"Gilbert","year":"1999","journal-title":"Genet. Test."},{"key":"10.1016\/j.ejmg.2016.02.005_bib7","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1016\/j.gene.2013.09.006","article-title":"Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature","volume":"531","author":"Li","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ejmg.2016.02.005_bib8","doi-asserted-by":"crossref","first-page":"2313","DOI":"10.1002\/ajmg.a.32460","article-title":"Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype","volume":"146A","author":"Marangi","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2016.02.005_bib9","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1038\/nature03187","article-title":"The sequence and analysis of duplication-rich human chromosome 16","volume":"432","author":"Martin","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2016.02.005_bib10","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/j.ejmg.2012.09.006","article-title":"Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation","volume":"55","author":"Mattina","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.005_bib11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399407000415","article-title":"Rubinstein-Taybi syndrome: clinical and molecular overview","volume":"9","author":"Roelfsema","year":"2007","journal-title":"Expert Rev. Mol. Med."},{"key":"10.1016\/j.ejmg.2016.02.005_bib12","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1136\/jmg.2009.070573","article-title":"Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome","volume":"47","author":"Thienpont","year":"2010","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2016.02.005_bib13","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1002\/ajmg.a.31893","article-title":"A\u00a0microduplication of CBP in a patient with mental retardation and a congenital heart defect","volume":"143A","author":"Thienpont","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2016.02.005_bib14","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1097\/MCD.0b013e3283554d15","article-title":"A\u00a0microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation","volume":"21","author":"Tuysuz","year":"2012","journal-title":"Clin. Dysmorphol."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300167?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721216300167?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:01Z","timestamp":1761709381000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721216300167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["S1769721216300167"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.005","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}