{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T04:58:07Z","timestamp":1793681887791,"version":"4.5.1"},"reference-count":25,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2012,2,1]],"date-time":"2012-02-01T00:00:00Z","timestamp":1328054400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,2,1]],"date-time":"2012-02-01T00:00:00Z","timestamp":1328054400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T00:00:00Z","timestamp":1373932800000},"content-version":"vor","delay-in-days":531,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2012,2]]},"DOI":"10.1016\/j.ajhg.2011.12.023","type":"journal-article","created":{"date-parts":[[2012,2,2]],"date-time":"2012-02-02T19:23:09Z","timestamp":1328210589000},"page":"369-377","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":201,"title":["Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly"],"prefix":"10.1016","volume":"90","author":[{"given":"Matthew\u00a0A.","family":"Lines","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijia","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Schwartzentruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart L.","family":"Douglas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle\u00a0C.","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chandree","family":"Beaulieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria\u00a0Leine","family":"Guion-Almeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseli\u00a0Maria","family":"Zechi-Ceide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca","family":"Gener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen-Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Usha","family":"Kini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almuth","family":"Caliebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulen\u00a0Eda","family":"Utine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Kohlhase","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur\u00a0W.","family":"Grix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dietmar\u00a0R.","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Hehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"B\u00f6hm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Majewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis\u00a0E.","family":"Bulman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kym\u00a0M.","family":"Boycott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.12.023_bib1","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng0296-130","article-title":"Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome","volume":"12","year":"1996","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.12.023_bib2","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1038\/ng.724","article-title":"Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome","volume":"43","author":"Dauwerse","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.12.023_bib3","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng.499","article-title":"Exome sequencing identifies the cause of a mendelian disorder","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.12.023_bib4","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1097\/01.mcd.0000220603.09661.7e","article-title":"A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate","volume":"15","author":"Guion-Almeida","year":"2006","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ajhg.2011.12.023_bib5","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1002\/ajmg.a.32747","article-title":"Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome","volume":"149A","author":"Wieczorek","year":"2009","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.12.023_bib6","doi-asserted-by":"crossref","first-page":"2762","DOI":"10.1002\/ajmg.a.32816","article-title":"Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?","volume":"149A","author":"Guion-Almeida","year":"2009","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.12.023_bib7","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2011.12.023_bib8","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2011.12.023_bib9","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.12.023_bib10","doi-asserted-by":"crossref","first-page":"4092","DOI":"10.1093\/emboj\/16.13.4092","article-title":"An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2","volume":"16","author":"Fabrizio","year":"1997","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2011.12.023_bib11","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1038\/nsmb.1506","article-title":"Localization of Prp8, Brr2, Snu114 and U4\/U6 proteins in the yeast tri-snRNP by electron microscopy","volume":"15","author":"H\u00e4cker","year":"2008","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2011.12.023_bib12","doi-asserted-by":"crossref","first-page":"6756","DOI":"10.1128\/MCB.18.11.6756","article-title":"The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein","volume":"18","author":"Achsel","year":"1998","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2011.12.023_bib13","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1093\/embo-reports\/kvf172","article-title":"The ribosomal translocase homologue Snu114p is involved in unwinding U4\/U6 RNA during activation of the spliceosome","volume":"3","author":"Bartels","year":"2002","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2011.12.023_bib14","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/j.molcel.2006.05.043","article-title":"The EF-G-like GTPase Snu114p regulates spliceosome dynamics mediated by Brr2p, a DExD\/H box ATPase","volume":"23","author":"Small","year":"2006","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2011.12.023_bib15","doi-asserted-by":"crossref","first-page":"28324","DOI":"10.1074\/jbc.M303043200","article-title":"Mutagenesis suggests several roles of Snu114p in pre-mRNA splicing","volume":"278","author":"Bartels","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.12.023_bib16","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1534\/genetics.105.042044","article-title":"Genetic analysis reveals a role for the C terminus of the Saccharomyces cerevisiae GTPase Snu114 during spliceosome activation","volume":"170","author":"Brenner","year":"2005","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2011.12.023_bib17","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/nsb923","article-title":"Two crystal structures demonstrate large conformational changes in the eukaryotic ribosomal translocase","volume":"10","author":"J\u00f8rgensen","year":"2003","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.ajhg.2011.12.023_bib18","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/S1097-2765(01)00305-7","article-title":"A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)","volume":"8","author":"Vithana","year":"2001","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2011.12.023_bib19","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1093\/hmg\/10.15.1555","article-title":"Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)","volume":"10","author":"McKie","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2011.12.023_bib20","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/j.ajhg.2009.09.020","article-title":"Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4\/U6 snRNAs","volume":"85","author":"Zhao","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.12.023_bib21","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ajhg.2011.04.008","article-title":"A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa","volume":"88","author":"Tanackovic","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.12.023_bib22","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1126\/science.1200587","article-title":"Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I","volume":"332","author":"He","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.12.023_bib23","doi-asserted-by":"crossref","first-page":"3219","DOI":"10.1128\/MCB.22.10.3219-3229.2002","article-title":"Human U4\/U6.U5 and U4atac\/U6atac.U5 tri-snRNPs exhibit similar protein compositions","volume":"22","author":"Schneider","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2011.12.023_bib24","doi-asserted-by":"crossref","first-page":"13403","DOI":"10.1073\/pnas.0603730103","article-title":"Tcof1\/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities","volume":"103","author":"Dixon","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2011.12.023_bib25","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.ajhg.2008.11.004","article-title":"Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients","volume":"83","author":"Gazda","year":"2008","journal-title":"Am. J. Hum. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712000407?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929712000407?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:11:36Z","timestamp":1757574696000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929712000407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,2]]}},"alternative-id":["S0002929712000407"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.12.023","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.13784956.15212056","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2012,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly","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.2011.12.023","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society of Human Genetics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}