{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T06:00:52Z","timestamp":1794031252363,"version":"4.8.0"},"reference-count":40,"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":[[2016,10,7]],"date-time":"2016-10-07T00:00:00Z","timestamp":1475798400000},"content-version":"vor","delay-in-days":189,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1016\/j.ajhg.2016.02.010","type":"journal-article","created":{"date-parts":[[2016,3,24]],"date-time":"2016-03-24T12:02:07Z","timestamp":1458820927000},"page":"643-652","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":75,"title":["Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice"],"prefix":"10.1016","volume":"98","author":[{"given":"Ranad","family":"Shaheen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shams","family":"Anazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tawfeg","family":"Ben-Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed\u00a0Zain","family":"Seidahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.\u00a0Brianna","family":"Caddle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Palmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rehab","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarfa","family":"Alshidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samya","family":"Hagos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Goodwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mais","family":"Hashem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salma\u00a0M.","family":"Wakil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Abouelhoda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek","family":"Colak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen\u00a0A.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan\u00a0S.","family":"Alkuraya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2016.02.010_bib1","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1126\/science.337.6099.1159","article-title":"Genomics. ENCODE project writes eulogy for junk DNA","volume":"7","author":"Pennisi","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2016.02.010_bib2","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/nrg3863","article-title":"RNA-mediated epigenetic regulation of gene expression","volume":"16","author":"Holoch","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2016.02.010_bib3","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1042\/BJ20100699","article-title":"NMD: RNA biology meets human genetic medicine","volume":"430","author":"Bhuvanagiri","year":"2010","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2016.02.010_bib4","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.tcb.2008.04.005","article-title":"The meaning of nonsense","volume":"18","author":"Stalder","year":"2008","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib5","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1146\/annurev.biochem.76.050106.093909","article-title":"The nonsense-mediated decay RNA surveillance pathway","volume":"76","author":"Chang","year":"2007","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.ajhg.2016.02.010_bib6","doi-asserted-by":"crossref","first-page":"1833","DOI":"10.1101\/gad.1566807","article-title":"Quality control of eukaryotic mRNA: safeguarding cells from abnormal mRNA function","volume":"21","author":"Isken","year":"2007","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2016.02.010_bib7","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.gde.2011.03.008","article-title":"Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question","volume":"21","author":"Hwang","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ajhg.2016.02.010_bib8","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1101\/gad.1407606","article-title":"Quality control of gene expression: a stepwise assembly pathway for the surveillance complex that triggers nonsense-mediated mRNA decay","volume":"20","author":"Behm-Ansmant","year":"2006","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2016.02.010_bib9","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1016\/S0092-8674(00)00214-2","article-title":"Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon","volume":"103","author":"Lykke-Andersen","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2016.02.010_bib10","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1016\/S1097-2765(03)00443-X","article-title":"Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7","volume":"12","author":"Ohnishi","year":"2003","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2016.02.010_bib11","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1101\/gad.1389006","article-title":"Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay","volume":"20","author":"Kashima","year":"2006","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2016.02.010_bib12","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1101\/gad.1767209","article-title":"SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay","volume":"23","author":"Yamashita","year":"2009","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2016.02.010_bib13","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1038\/emboj.2009.175","article-title":"Unusual bipartite mode of interaction between the nonsense-mediated decay factors, UPF1 and UPF2","volume":"28","author":"Clerici","year":"2009","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2016.02.010_bib14","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1093\/nar\/gkr791","article-title":"N- and C-terminal Upf1 phosphorylations create binding platforms for SMG-6 and SMG-5:SMG-7 during NMD","volume":"40","author":"Okada-Katsuhata","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2016.02.010_bib15","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1038\/nrm3454","article-title":"NMD: a multifaceted response to premature translational termination","volume":"13","author":"Kervestin","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib16","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1261\/rna.038893.113","article-title":"Comparison of EJC-enhanced and EJC-independent NMD in human cells reveals two partially redundant degradation pathways","volume":"19","author":"Metze","year":"2013","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2016.02.010_bib17","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/ng1429","article-title":"Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise","volume":"36","author":"Mendell","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.02.010_bib18","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1128\/MCB.26.4.1272-1287.2006","article-title":"hUPF2 silencing identifies physiologic substrates of mammalian nonsense-mediated mRNA decay","volume":"26","author":"Wittmann","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib19","doi-asserted-by":"crossref","first-page":"1820","DOI":"10.1038\/sj.emboj.7601628","article-title":"An alternative branch of the nonsense-mediated decay pathway","volume":"26","author":"Chan","year":"2007","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2016.02.010_bib20","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1038\/nature03060","article-title":"A faux 3\u2032-UTR promotes aberrant termination and triggers nonsense-mediated mRNA decay","volume":"432","author":"Amrani","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2016.02.010_bib21","doi-asserted-by":"crossref","first-page":"e92","DOI":"10.1371\/journal.pbio.0060092","article-title":"Posttranscriptional gene regulation by spatial rearrangement of the 3\u2032 untranslated region","volume":"6","author":"Eberle","year":"2008","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib22","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1038\/emboj.2008.17","article-title":"Interactions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathways","volume":"27","author":"Ivanov","year":"2008","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2016.02.010_bib23","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.ceb.2009.02.007","article-title":"Execution of nonsense-mediated mRNA decay: what defines a substrate?","volume":"21","author":"Rebbapragada","year":"2009","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib24","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1097\/GIM.0b013e3181fbfcc4","article-title":"Autozygome decoded","volume":"12","author":"Alkuraya","year":"2010","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2016.02.010_bib25","series-title":"Current Protocols in Human Genetics","article-title":"Discovery of rare homozygous mutations from studies of consanguineous pedigrees","author":"Alkuraya","year":"2012"},{"key":"10.1016\/j.ajhg.2016.02.010_bib26","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/humu.20383","article-title":"Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families","volume":"27","author":"Carr","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2016.02.010_bib27","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1093\/bioinformatics\/bti009","article-title":"easyLINKAGE: a\u00a0PERL script for easy and automated two-\/multi-point linkage analyses","volume":"21","author":"Lindner","year":"2005","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2016.02.010_bib28","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J.\u00a0R. Stat. Soc. Series B Methodol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib29","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/gb-2003-4-5-p3","article-title":"DAVID: Database for Annotation, Visualization, and Integrated Discovery","volume":"4","author":"Dennis","year":"2003","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib30","doi-asserted-by":"crossref","first-page":"1260","DOI":"10.1038\/ng.3376","article-title":"MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates","volume":"47","author":"Guimier","year":"2015","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2016.02.010_bib31","doi-asserted-by":"crossref","first-page":"e84321","DOI":"10.1371\/journal.pone.0084321","article-title":"Structural stabilization of tissue for embryo phenotyping using micro-CT with iodine staining","volume":"8","author":"Wong","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2016.02.010_bib32","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1016\/j.ceb.2005.04.005","article-title":"Nonsense-mediated mRNA decay: molecular insights and mechanistic variations across species","volume":"17","author":"Conti","year":"2005","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib33","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1101\/gad.417707","article-title":"Mechanistic insights and identification of two novel factors in the C. elegans NMD pathway","volume":"21","author":"Longman","year":"2007","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2016.02.010_bib34","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1261\/rna.2404211","article-title":"Drosophila Upf1 and Upf2 loss of function inhibits cell growth and causes animal death in a Upf3-independent manner","volume":"17","author":"Avery","year":"2011","journal-title":"RNA"},{"key":"10.1016\/j.ajhg.2016.02.010_bib35","doi-asserted-by":"crossref","first-page":"3517","DOI":"10.1128\/MCB.00177-09","article-title":"Nonsense-mediated\u00a0mRNA decay effectors are essential for zebrafish embryonic development and survival","volume":"29","author":"Wittkopp","year":"2009","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2016.02.010_bib36","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1093\/hmg\/10.2.99","article-title":"Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability","volume":"10","author":"Medghalchi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2016.02.010_bib37","doi-asserted-by":"crossref","first-page":"12186","DOI":"10.1073\/pnas.1007336107","article-title":"Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay","volume":"107","author":"McIlwain","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2016.02.010_bib38","doi-asserted-by":"crossref","first-page":"e11650","DOI":"10.1371\/journal.pone.0011650","article-title":"UPF2 is a critical regulator of liver development, function and regeneration","volume":"5","author":"Thoren","year":"2010","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2016.02.010_bib39","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/nar\/gkq749","article-title":"Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex","volume":"39","author":"Fern\u00e1ndez","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2016.02.010_bib40","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1038\/ng2100","article-title":"Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation","volume":"39","author":"Tarpey","year":"2007","journal-title":"Nat. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716000616?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929716000616?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T04:15:55Z","timestamp":1718424955000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929716000616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4]]},"references-count":40,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"alternative-id":["S0002929716000616"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.02.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2016,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2016.02.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}