{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:09:25Z","timestamp":1792166965811,"version":"4.4.0"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"18","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mol. Genet."],"published-print":{"date-parts":[[2016,9,15]]},"DOI":"10.1093\/hmg\/ddw241","type":"journal-article","created":{"date-parts":[[2016,7,27]],"date-time":"2016-07-27T22:19:55Z","timestamp":1469657995000},"page":"4012-4020","source":"Crossref","is-referenced-by-count":47,"title":["<i>IFT52<\/i>mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome"],"prefix":"10.1093","volume":"25","author":[{"given":"Wenjuan","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Paige","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisette","family":"Nevarez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah A.","family":"Nickerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bamshad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"University of Washington Center for Mendelian Genomics Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Krakow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel H.","family":"Cohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,7,27]]},"reference":[{"key":"2017012903300600000_25.18.4012.1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"2017012903300600000_25.18.4012.2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1731-7"},{"key":"2017012903300600000_25.18.4012.3","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/ajmg.c.31336","article-title":"Ciliary disorder of the skeleton","volume":"160C","author":"Huber","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet"},{"key":"2017012903300600000_25.18.4012.4","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3085"},{"key":"2017012903300600000_25.18.4012.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.diff.2011.11.001"},{"key":"2017012903300600000_25.18.4012.6","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200606003"},{"key":"2017012903300600000_25.18.4012.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.015"},{"key":"2017012903300600000_25.18.4012.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.04.016"},{"key":"2017012903300600000_25.18.4012.9","doi-asserted-by":"crossref","unstructured":"Taylor S.P. Dantas T.J. Duran I. Wu S.L. Lachman R.S. Nelson S.F. Cohn D.H. Vallee R.B. Krakow D. Geno U.W.C.M. (2015) Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat. Commun., 6,7092.","DOI":"10.1038\/ncomms8092"},{"key":"2017012903300600000_25.18.4012.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.007"},{"key":"2017012903300600000_25.18.4012.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.022"},{"key":"2017012903300600000_25.18.4012.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.015"},{"key":"2017012903300600000_25.18.4012.13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.03.006"},{"key":"2017012903300600000_25.18.4012.14","doi-asserted-by":"publisher","DOI":"10.4161\/15384101.2014.985066"},{"key":"2017012903300600000_25.18.4012.15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069468"},{"key":"2017012903300600000_25.18.4012.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.12.004"},{"key":"2017012903300600000_25.18.4012.17","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.06.003"},{"key":"2017012903300600000_25.18.4012.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.001"},{"key":"2017012903300600000_25.18.4012.19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.012"},{"key":"2017012903300600000_25.18.4012.20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"2017012903300600000_25.18.4012.21","first-page":"189\u2013196","article-title":"TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum","volume":"43","author":"Davis","year":"2011","journal-title":"Nat. Genet"},{"key":"2017012903300600000_25.18.4012.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.09.012"},{"key":"2017012903300600000_25.18.4012.23","doi-asserted-by":"publisher","DOI":"10.1038\/73508"},{"key":"2017012903300600000_25.18.4012.24","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00178-6"},{"key":"2017012903300600000_25.18.4012.25","unstructured":"Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA (URL: http:\/\/evs.gs.washington.edu\/EVS\/), date last accessed March 2015. in press."},{"key":"2017012903300600000_25.18.4012.26","doi-asserted-by":"crossref","unstructured":"Lek M. Karczewski K. Minikel E. Samocha K. Banks E. Fennell T. O'Donnell-Luria A. Ware J. Hill A. Cummings B. . (2015) Analysis of protein-coding genetic variation in 60,706 humans. bioRxiv, doi: http:\/\/dx.doi.org\/10.1101\/030338.","DOI":"10.1101\/030338"},{"key":"2017012903300600000_25.18.4012.27","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01894"},{"key":"2017012903300600000_25.18.4012.28","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.molbev.a025575"},{"key":"2017012903300600000_25.18.4012.29","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.86"},{"key":"2017012903300600000_25.18.4012.30","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201408002"},{"key":"2017012903300600000_25.18.4012.31","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.023"},{"key":"2017012903300600000_25.18.4012.32","doi-asserted-by":"crossref","unstructured":"Cevik S. Sanders A.A.W.M. Van Wijk E. Boldt K. Clarke L. van Reeuwijk J. Hori Y. Horn N. Hetterschijt L. Wdowicz A. , . (2013) Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B\/ARL-13 to an Inv-like Ciliary Membrane Subdomain. Plos Genet., 9, e1003977. doi: 10.1371\/journal.pgen.1003977 .","DOI":"10.1371\/journal.pgen.1003977"},{"key":"2017012903300600000_25.18.4012.33","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102838"},{"key":"2017012903300600000_25.18.4012.34","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2004.06.002"},{"key":"2017012903300600000_25.18.4012.35","unstructured":"Richey E.A. Qin H.M. (2012) Dissecting the sequential assembly and localization of intraflagellar transport particle complex B in Chlamydomonas. Plos One, 7, 7(8):e43118."},{"key":"2017012903300600000_25.18.4012.36","doi-asserted-by":"publisher","DOI":"10.1016\/0012-1606(86)90314-3"},{"key":"2017012903300600000_25.18.4012.37","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(04)00268-5"},{"key":"2017012903300600000_25.18.4012.38","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00484-5"},{"key":"2017012903300600000_25.18.4012.39","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1111\/cge.12762","article-title":"A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy","volume":"90","author":"Girisha","year":"2016","journal-title":"Clin Genet"},{"key":"2017012903300600000_25.18.4012.40","doi-asserted-by":"crossref","first-page":"11.10.1","DOI":"10.1002\/0471250953.bi1110s43","article-title":"From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"2017012903300600000_25.18.4012.41","first-page":"1297","article-title":"The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome.","volume":"20","author":"McKenna","year":"2010","journal-title":"Res"},{"key":"2017012903300600000_25.18.4012.42","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2089"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article\/2525853\/IFT52-mutations-destabilize-anterograde-complex","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,18]],"date-time":"2024-06-18T10:32:27Z","timestamp":1718706747000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddw241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,27]]},"references-count":42,"journal-issue":{"issue":"18","published-online":{"date-parts":[[2017,1,29]]},"published-print":{"date-parts":[[2016,9,15]]}},"alternative-id":["10.1093\/hmg\/ddw241"],"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddw241","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,27]]}}}