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Article: Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

TitleWhole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes
Authors
Gui, HSchriemer, DCheng, WCChauhan, RKAntinolo, GBerrios, CBleda, MBrooks, ASBrouwer, RWWBurns, AJCherny, SSDopazo, JEggen, BJLGriseri, PJalloh, BLe, TLLui, VCHLuzon-Toro, BMatera, INgan, ESWPelet, ARuiz-Ferrer, MSham, PCShepherd, ITSo, MTSribudiani, YTang, SMvan den Hout, MCGNvan der Linde, HCvan Ham, TJvan IJcken, WFJVerheij, JBGMAmiel, JBorrego, SCeccherini, IChakravarti, ALyonnet, STam, PKHGarcia-Barcelo, MMHofstra, RMW
KeywordsDe novo mutations
ENS
Hirschsprung disease
Neural crest
Issue Date2017
PublisherBioMed Central Ltd. The Journal's web site is located at http://www.genomebiology.com
Citation
Genome Biology, 2017, v. 18 n. 1, p. 48:1-13 How to Cite?
DOI: http://dx.doi.org/10.1186/s13059-017-1174-6
Persistent Identifierhttp://hdl.handle.net/10722/241647
ISSN
1474-7596
2012 Impact Factor: 10.288
2023 SCImago Journal Rankings: 7.197
ISI Accession Number ID
WOS:000397112900001

 

DC FieldValueLanguage
dc.contributor.authorGui, H-
dc.contributor.authorSchriemer, D-
dc.contributor.authorCheng, WC-
dc.contributor.authorChauhan, RK-
dc.contributor.authorAntinolo, G-
dc.contributor.authorBerrios, C-
dc.contributor.authorBleda, M-
dc.contributor.authorBrooks, AS-
dc.contributor.authorBrouwer, RWW-
dc.contributor.authorBurns, AJ-
dc.contributor.authorCherny, SS-
dc.contributor.authorDopazo, J-
dc.contributor.authorEggen, BJL-
dc.contributor.authorGriseri, P-
dc.contributor.authorJalloh, B-
dc.contributor.authorLe, TL-
dc.contributor.authorLui, VCH-
dc.contributor.authorLuzon-Toro, B-
dc.contributor.authorMatera, I-
dc.contributor.authorNgan, ESW-
dc.contributor.authorPelet, A-
dc.contributor.authorRuiz-Ferrer, M-
dc.contributor.authorSham, PC-
dc.contributor.authorShepherd, IT-
dc.contributor.authorSo, MT-
dc.contributor.authorSribudiani, Y-
dc.contributor.authorTang, SM-
dc.contributor.authorvan den Hout, MCGN-
dc.contributor.authorvan der Linde, HC-
dc.contributor.authorvan Ham, TJ-
dc.contributor.authorvan IJcken, WFJ-
dc.contributor.authorVerheij, JBGM-
dc.contributor.authorAmiel, J-
dc.contributor.authorBorrego, S-
dc.contributor.authorCeccherini, I-
dc.contributor.authorChakravarti, A-
dc.contributor.authorLyonnet, S-
dc.contributor.authorTam, PKH-
dc.contributor.authorGarcia-Barcelo, MM-
dc.contributor.authorHofstra, RMW-
dc.date.accessioned2017-06-20T01:46:35Z-
dc.date.available2017-06-20T01:46:35Z-
dc.date.issued2017-
dc.identifier.citationGenome Biology, 2017, v. 18 n. 1, p. 48:1-13-
dc.identifier.issn1474-7596-
dc.identifier.urihttp://hdl.handle.net/10722/241647-
dc.languageeng-
dc.publisherBioMed Central Ltd. The Journal's web site is located at http://www.genomebiology.com-
dc.relation.ispartofGenome Biology-
dc.rightsGenome Biology. Copyright © BioMed Central Ltd.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectDe novo mutations-
dc.subjectENS-
dc.subjectHirschsprung disease-
dc.subjectNeural crest-
dc.titleWhole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes-
dc.typeArticle-
dc.identifier.emailGui, H: kuei1985@hku.hk-
dc.identifier.emailCheng, WC: wwccheng@hku.hk-
dc.identifier.emailCherny, SS: cherny@hku.hk-
dc.identifier.emailLui, VCH: vchlui@hku.hk-
dc.identifier.emailNgan, ESW: engan@hku.hk-
dc.identifier.emailSham, PC: pcsham@hku.hk-
dc.identifier.emailSo, MT: jaymtso@hku.hk-
dc.identifier.emailTang, SM: clalatsm@hku.hk-
dc.identifier.emailTam, PKH: paultam@hku.hk-
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.authorityCherny, SS=rp00232-
dc.identifier.authorityLui, VCH=rp00363-
dc.identifier.authorityNgan, ESW=rp00422-
dc.identifier.authoritySham, PC=rp00459-
dc.identifier.authorityTang, SM=rp02105-
dc.identifier.authorityTam, PKH=rp00060-
dc.identifier.authorityGarcia-Barcelo, MM=rp00445-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1186/s13059-017-1174-6-
dc.identifier.scopuseid_2-s2.0-85014786750-
dc.identifier.hkuros272503-
dc.identifier.volume18-
dc.identifier.issue1-
dc.identifier.spage48:1-
dc.identifier.epage13-
dc.identifier.isiWOS:000397112900001-
dc.publisher.placeUnited Kingdom-
dc.identifier.issnl1474-7596-

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