{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:24Z","timestamp":1790768904957,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,4]]},"DOI":"10.1002\/humu.22957","type":"journal-article","created":{"date-parts":[[2016,1,18]],"date-time":"2016-01-18T00:00:45Z","timestamp":1453075245000},"page":"396-405","source":"Crossref","is-referenced-by-count":93,"title":["Systematic Analysis of<i>CCNO<\/i>Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis"],"prefix":"10.1155","volume":"37","author":[{"given":"Israel","family":"Amirav","sequence":"first","affiliation":[{"name":"Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed 13100, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wallmeier","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki T.","family":"Loges","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabea","family":"Menchen","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Pennekamp","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huda","family":"Mussaffi","sequence":"additional","affiliation":[{"name":"Pulmonary Institute, Schneider Children's Medical Center of Israel and Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Revital","family":"Abitbul","sequence":"additional","affiliation":[{"name":"Ziv Medical Center, Faculty of Medicine, Bar IIan University, Safed 13100, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avraham","family":"Avital","sequence":"additional","affiliation":[{"name":"Institute of Pulmonology; Hadassah-Hebrew University Medical Centers; Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lea","family":"Bentur","sequence":"additional","affiliation":[{"name":"Rambam Medical Center; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard W.","family":"Dougherty","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elias","family":"Nael","sequence":"additional","affiliation":[{"name":"Saint Vincent De-Paul Hospital; Nazareth Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moran","family":"Lavie","sequence":"additional","affiliation":[{"name":"Edmond & Lili Safra Children's Hospital; Sheba Medical Center; Tel Hashomer Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Olbrich","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudius","family":"Werner","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Kintner","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology Laboratory; Salk Institute for Biological Studies; San Diego California 92186"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics; University Children's Hospital Muenster; Muenster 48149 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Israeli PCD Consortium Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,4]]},"reference":[{"key":"10.1002\/humu.22957-BIB0001|humu22957-cit-0001","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1164\/rccm.200406-710ST","article-title":"ATS\/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005","volume":"171","author":"American Thoracic Society; European Respiratory Society","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1002\/humu.22957-BIB0002|humu22957-cit-0002","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/s13104-015-0999-x","article-title":"A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis","volume":"8","author":"Amirav","year":"2015","journal-title":"BMC Res Notes"},{"key":"10.1002\/humu.22957-BIB0003|humu22957-cit-0003","doi-asserted-by":"crossref","first-page":"4418","DOI":"10.1038\/ncomms5418","article-title":"MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"5","author":"Boon","year":"2014","journal-title":"Nat Commun"},{"key":"10.1002\/humu.22957-BIB0004|humu22957-cit-0004","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1038\/ejhg.2014.79","article-title":"Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population","volume":"23","author":"Casey","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22957-BIB0005|humu22957-cit-0005","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1183\/09031936.00088614","article-title":"Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis","volume":"44","author":"Collins","year":"2014","journal-title":"Eur Respir J"},{"key":"10.1002\/humu.22957-BIB0006|humu22957-cit-0006","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1136\/jmg.2008.061176","article-title":"Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia","volume":"46","author":"Failly","year":"2009","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22957-BIB0007|humu22957-cit-0007","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1002\/humu.22957-BIB0008|humu22957-cit-0008","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.15252\/embj.201490805","article-title":"Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells","volume":"34","author":"Funk","year":"2015","journal-title":"EMBO J"},{"key":"10.1002\/humu.22957-BIB0009|humu22957-cit-0009","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1164\/rccm.200601-084OC","article-title":"DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects","volume":"174","author":"Hornef","year":"2006","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1002\/humu.22957-BIB0010|humu22957-cit-0010","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1093\/hmg\/ddh219","article-title":"Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation","volume":"13","author":"Iba\u00f1ez-Tallon","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22957-BIB0011|humu22957-cit-0011","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1183\/09031936.00001010","article-title":"Factors influencing age at diagnosis of primary ciliary dyskinesia in European children","volume":"36","author":"Kuehni","year":"2010","journal-title":"Eur Respir J"},{"key":"10.1002\/humu.22957-BIB0012|humu22957-cit-0012","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1513\/AnnalsATS.201305-110OC","article-title":"Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia","volume":"10","author":"Leigh","year":"2013","journal-title":"Ann Am Thorac Soc"},{"key":"10.1002\/humu.22957-BIB0013|humu22957-cit-0013","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/cpf.12085","article-title":"Mucociliary clearance: pathophysiological aspects","volume":"34","author":"Munkholm","year":"2014","journal-title":"Clin Physiol Funct Imaging"},{"key":"10.1002\/humu.22957-BIB0014|humu22957-cit-0014","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0092-8674(00)81705-5","article-title":"Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein","volume":"95","author":"Nonaka","year":"1998","journal-title":"Cell"},{"key":"10.1002\/humu.22957-BIB0015|humu22957-cit-0015","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0091-679X(08)91007-4","article-title":"Immunofluorescence staining of ciliated respiratory epithelial cells","volume":"91","author":"Omran","year":"2009","journal-title":"Methods Cell Biol"},{"key":"10.1002\/humu.22957-BIB0016|humu22957-cit-0016","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1038\/ncb2406","article-title":"Multicilin promotes centriole assembly and ciliogenesis during multiciliate cell differentiation","volume":"14","author":"Stubbs","year":"2012","journal-title":"Nat Cell Biol"},{"key":"10.1002\/humu.22957-BIB0017|humu22957-cit-0017","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/ng.2707","article-title":"DYX1C1 is required for axonemal dynein assembly and ciliary motility","volume":"45","author":"Tarkar","year":"2013","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22957-BIB0018|humu22957-cit-0018","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1038\/ng.2961","article-title":"Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"46","author":"Wallmeier","year":"2014","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22957-BIB0019|humu22957-cit-0019","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13630-014-0011-8","article-title":"Diagnosis and management of primary ciliary dyskinesia","volume":"4","author":"Werner","year":"2015","journal-title":"Cilia"},{"key":"10.1002\/humu.22957-BIB0020|humu22957-cit-0020","unstructured":"Zariwala MA Leigh MW Pittman JE Carson JL Hazucha MJ Wallmeier J Loges NT Olbrich H Omran H Knowles MR 2014 th st"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22957","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22957\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T11:54:07Z","timestamp":1672314847000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22957"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,4]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,4]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22957","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2016,2,4]]}}}