{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T22:36:09Z","timestamp":1773268569307,"version":"3.50.1"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1016\/j.gene.2017.04.030","type":"journal-article","created":{"date-parts":[[2017,4,27]],"date-time":"2017-04-27T05:15:26Z","timestamp":1493270126000},"page":"50-55","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios"],"prefix":"10.1016","volume":"624","author":[{"given":"Ingunn","family":"Holm","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Spildrejorde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbro","family":"Stadheim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin L.","family":"Eiklid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pubudu S.","family":"Samarakoon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2017.04.030_bb0005","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.gene.2017.04.030_bb0010","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1148\/rg.332125046","article-title":"Anorectal malformations: finding the pathway out of the labyrinth","volume":"33","author":"Alamo","year":"2013","journal-title":"RadioGraphics"},{"key":"10.1016\/j.gene.2017.04.030_bb0020","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1091\/mbc.E10-07-0566","article-title":"Arid5a cooperates with Sox9 to stimulate chondrocyte-specific transcription","volume":"22","author":"Amano","year":"2011","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.gene.2017.04.030_bb0025","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1038\/nature16965","article-title":"Genomic analyses identify molecular subtypes of pancreatic cancer","volume":"531","author":"Bailey","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.gene.2017.04.030_bb0030","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1086\/302723","article-title":"Involvement of the HLXB9 homeobox gene in Currarino syndrome","volume":"66","author":"Belloni","year":"2000","journal-title":"Am. J. Hum. Genet."},{"issue":"7","key":"10.1016\/j.gene.2017.04.030_bb0035","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1002\/humu.20718","article-title":"Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation","volume":"29","author":"Cr\u00e9tolle","year":"2008","journal-title":"Hum. Mutat."},{"issue":"21","key":"10.1016\/j.gene.2017.04.030_bb0040","doi-asserted-by":"crossref","DOI":"10.1242\/dev.067736","article-title":"Zebrafish mnx1 controls cell fate choice in the developing endocrine pancreas","volume":"138","author":"Dalgin","year":"2011","journal-title":"Development"},{"key":"10.1016\/j.gene.2017.04.030_bb0045","doi-asserted-by":"crossref","first-page":"4861","DOI":"10.1158\/0008-5472.CAN-16-0481","article-title":"Reduced Expression of Histone Methyltransferases KMT2C and KMT2D Correlates with Improved Outcome in Pancreatic Ductal Adenocarcinoma","volume":"76","author":"Dawkins","year":"2016","journal-title":"Cancer Res."},{"key":"10.1016\/j.gene.2017.04.030_bb0050","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1111\/cge.12848","article-title":"Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2","volume":"91","author":"Dworschak","year":"2017","journal-title":"Clin. Genet."},{"key":"10.1016\/j.gene.2017.04.030_bb0055","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/humu.22033","article-title":"Detecting false positive signals in exome sequencing","volume":"33","author":"Fajardo","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2017.04.030_bb0060","doi-asserted-by":"crossref","first-page":"1892","DOI":"10.1016\/j.jpedsurg.2009.03.039","article-title":"MNX1 (HLXB9) mutations in Currarino patients","volume":"44","author":"Garcia-Barcel\u00f3","year":"2009","journal-title":"J. Pediatr. Surg."},{"issue":"8","key":"10.1016\/j.gene.2017.04.030_bb0065","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1136\/jmg.37.8.561","article-title":"Autosomal dominant sacral agenesis; Currarino syndrome","volume":"37","author":"Lynch","year":"2000","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2017.04.030_bb0070","first-page":"2264","article-title":"Currarino syndrome at Rikshospitalet 1961\u20132012","volume":"133","author":"Monclair","year":"2013","journal-title":"Tidsskrift for Den norske legeforening"},{"key":"10.1016\/j.gene.2017.04.030_bb0075","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res."},{"key":"10.1016\/j.gene.2017.04.030_bb0080","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1016\/S0092-8674(03)00724-4","article-title":"Differential contributions of condensin I and condensin II to mitotic chromosome architecture in vertebrate cells","volume":"115","author":"Ono","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.gene.2017.04.030_bb0085","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1093\/nar\/gki145","article-title":"DNA-binding properties of ARID family proteins","volume":"33","author":"Patsialou","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.gene.2017.04.030_bb0090","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/nbt.1754","article-title":"Integrative genomics viewer","volume":"29","author":"Robinson","year":"2011","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.gene.2017.04.030_bb0095","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2007.04.002","article-title":"Associated malformations in patients with anorectal anomalies","author":"Stoll","year":"2007","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.gene.2017.04.030_bb0100","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1128\/MCB.06318-11","article-title":"RNA profiling and chromatin immunoprecipitation-sequencing reveal that PTF1a stabilizes pancreas progenitor identity via the control of MNX1\/HLXB9 and a network of other transcription factors","volume":"32","author":"Thompson","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.gene.2017.04.030_bb0105","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1055\/s-0031-1273691","article-title":"PCSK5 and GDF11 expression in the hindgut region of mouse embryos with anorectal malformations","volume":"21","author":"Tsuda","year":"2011","journal-title":"Eur. J. Pediatr. Surg."},{"key":"10.1016\/j.gene.2017.04.030_bb0110","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1093\/bioinformatics\/btw046","article-title":"FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector","volume":"32","author":"Vigeland","year":"2016","journal-title":"Bioinformatics"},{"key":"10.1016\/j.gene.2017.04.030_bb0115","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1007\/s00383-010-2688-0","article-title":"Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations","volume":"26","author":"Wijers","year":"2010","journal-title":"Pediatr. Surg. Int."},{"key":"10.1016\/j.gene.2017.04.030_bb0120","article-title":"Highly conserved non-coding sequences are associated with vertebrate development","volume":"3","author":"Woolfe","year":"2005","journal-title":"PLoS Biol."},{"key":"10.1016\/j.gene.2017.04.030_bb0125","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1016\/j.jpedsurg.2011.02.039","article-title":"Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome","volume":"46","author":"Zu","year":"2011","journal-title":"J. Pediatr. Surg."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917302810?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111917302810?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,9,22]],"date-time":"2019-09-22T03:31:25Z","timestamp":1569123085000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111917302810"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8]]},"references-count":24,"alternative-id":["S0378111917302810"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2017.04.030","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2017,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole exome sequencing of sporadic patients with Currarino Syndrome: A report of three trios","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2017.04.030","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}