{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T14:18:19Z","timestamp":1769264299577,"version":"3.49.0"},"reference-count":15,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004085","name":"Ministry of Education, Science and Technology","doi-asserted-by":"publisher","award":["2009-0093822"],"award-info":[{"award-number":["2009-0093822"]}],"id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004085","name":"Ministry of Education, Science and Technology","doi-asserted-by":"publisher","award":["2010-0007857"],"award-info":[{"award-number":["2010-0007857"]}],"id":[{"id":"10.13039\/501100004085","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002701","name":"Ministry of Education","doi-asserted-by":"publisher","award":["NRF-2012M3A9D1054450"],"award-info":[{"award-number":["NRF-2012M3A9D1054450"]}],"id":[{"id":"10.13039\/501100002701","id-type":"DOI","asserted-by":"publisher"}]},{"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"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","translationalres.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Translational Research"],"published-print":{"date-parts":[[2016,11]]},"DOI":"10.1016\/j.trsl.2016.06.001","type":"journal-article","created":{"date-parts":[[2016,6,19]],"date-time":"2016-06-19T02:55:19Z","timestamp":1466304919000},"page":"31-40.e6","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease"],"prefix":"10.1016","volume":"177","author":[{"given":"Joon Seol","family":"Bae","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"InSong","family":"Koh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun Sub","family":"Cheong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong-Meen","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dae-Yeon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung-Tak","family":"Oh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun-Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyuwhan","family":"Jung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae Hoon","family":"Sul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woong-Yang","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeong-Hyun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1732-7838","authenticated-orcid":false,"given":"Hyoung Doo","family":"Shin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.trsl.2016.06.001_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2007.053959","article-title":"Hirschsprung disease, associated syndromes and genetics: a review","volume":"45","author":"Amiel","year":"2008","journal-title":"J Med Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib2","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1038\/nrn2137","article-title":"Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies","volume":"8","author":"Heanue","year":"2007","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.trsl.2016.06.001_bib3","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1086\/324342","article-title":"Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures","volume":"69","author":"Amiel","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib4","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1136\/jmg.31.4.325","article-title":"Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?","volume":"31","author":"Fewtrell","year":"1994","journal-title":"J Med Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib5","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1136\/jmg.26.2.100","article-title":"Interstitial deletion of distal 13q associated with Hirschsprung's disease","volume":"26","author":"Lamont","year":"1989","journal-title":"J Med Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib6","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<298::AID-AJMG10>3.0.CO;2-F","article-title":"Intersitial deletion of 20p: new candidate region for Hirschsprung disease and autism?","volume":"71","author":"Michaelis","year":"1997","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib7","doi-asserted-by":"crossref","first-page":"e21219","DOI":"10.1371\/journal.pone.0021219","article-title":"Copy number variants in candidate genes are genetic modifiers of Hirschsprung disease","volume":"6","author":"Jiang","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.trsl.2016.06.001_bib8","doi-asserted-by":"crossref","first-page":"e1002687","DOI":"10.1371\/journal.pgen.1002687","article-title":"Genome-wide copy number analysis uncovers a new HSCR gene: NRG3","volume":"8","author":"Tang","year":"2012","journal-title":"PLoS Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib9","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ajhg.2012.06.014","article-title":"Genomic patterns of homozygosity in worldwide human populations","volume":"91","author":"Pemberton","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib10","doi-asserted-by":"crossref","first-page":"e110292","DOI":"10.1371\/journal.pone.0110292","article-title":"A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease","volume":"9","author":"Kim","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.trsl.2016.06.001_bib11","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1038\/ng.327","article-title":"Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants","volume":"41","author":"Kathiresan","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib12","doi-asserted-by":"crossref","first-page":"1790","DOI":"10.1093\/bioinformatics\/bts239","article-title":"CNVRuler: a copy number variation-based case-control association analysis tool","volume":"28","author":"Kim","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.trsl.2016.06.001_bib13","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.ajhg.2010.06.007","article-title":"Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability","volume":"87","author":"Emison","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.trsl.2016.06.001_bib14","doi-asserted-by":"crossref","first-page":"641","DOI":"10.3892\/mmr.2015.4633","article-title":"Detection and preliminary screening of the human gene expression profile for Hirschsprung's disease","volume":"13","author":"Wang","year":"2016","journal-title":"Mol Med Rep"},{"key":"10.1016\/j.trsl.2016.06.001_bib15","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.jpedsurg.2013.10.027","article-title":"A novel stop mutation in the EDNRB gene in a family with Hirschsprung's disease associated with multiple sclerosis","volume":"49","author":"Granstrom","year":"2014","journal-title":"J Pediatr Surg"}],"container-title":["Translational Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1931524416300949?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1931524416300949?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T00:03:53Z","timestamp":1658102633000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1931524416300949"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":15,"alternative-id":["S1931524416300949"],"URL":"https:\/\/doi.org\/10.1016\/j.trsl.2016.06.001","relation":{},"ISSN":["1931-5244"],"issn-type":[{"value":"1931-5244","type":"print"}],"subject":[],"published":{"date-parts":[[2016,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease","name":"articletitle","label":"Article Title"},{"value":"Translational Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.trsl.2016.06.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}