{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T03:54:47Z","timestamp":1783396487559,"version":"3.54.6"},"reference-count":48,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T00:00:00Z","timestamp":1520553600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T00:00:00Z","timestamp":1520553600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"E. Mulder and his \u201cDutch tough mudder team\u201d"},{"DOI":"10.13039\/501100003142","name":"Fonds NutsOhra","doi-asserted-by":"publisher","award":["1103-054"],"award-info":[{"award-number":["1103-054"]}],"id":[{"id":"10.13039\/501100003142","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1002\/humu.23403","type":"journal-article","created":{"date-parts":[[2018,1,24]],"date-time":"2018-01-24T03:23:00Z","timestamp":1516764180000},"page":"653-665","source":"Crossref","is-referenced-by-count":45,"title":["Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients"],"prefix":"10.1155","volume":"39","author":[{"given":"Tamara","family":"Paff","sequence":"first","affiliation":[{"name":"Department of Pulmonary Diseases; VU University Medical Center; Amsterdam The Netherlands"},{"name":"Department of Pediatric Pulmonology; VU University Medical Center; Amsterdam The Netherlands"},{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irsan E.","family":"Kooi","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youssef","family":"Moutaouakil","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Riesebos","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik A.","family":"Sistermans","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans J. M. A.","family":"Daniels","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Diseases; VU University Medical Center; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janneke M. M.","family":"Weiss","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans H. W. M.","family":"Niessen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cardiac Surgery; VU University Medical Center; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric G.","family":"Haarman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology; VU University Medical Center; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Pals","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7890-4411","authenticated-orcid":false,"given":"Dimitra","family":"Micha","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics; VU University Medical Center; Amsterdam Movement Sciences; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,9]]},"reference":[{"key":"10.1002\/humu.23403-BIB0001|humu23403-cit-0001","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/humu.22957","article-title":"Systematic analysis of CCNO variants in a defined population: Implications for clinical phenotype and differential diagnosis","volume":"37","author":"Amirav","year":"2016","journal-title":"Human Mutation"},{"key":"10.1002\/humu.23403-BIB0002|humu23403-cit-0002","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","article-title":"HTSeq-A Python framework to work with high-throughput sequencing data","volume":"31","author":"Anders","year":"2015","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.23403-BIB0003|humu23403-cit-0003","unstructured":"Andrews , S. 2010 FastQC: A quality control tool for high throughput sequence data www.bioinformatics.babraham.ac.uk\/projects\/fastqc"},{"key":"10.1002\/humu.23403-BIB0004|humu23403-cit-0004","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1186\/2046-2530-3-9","article-title":"Remodeling Cildb, a popular database for cilia and links for ciliopathies","volume":"3","author":"Arnaiz","year":"2014","journal-title":"Cilia"},{"key":"10.1002\/humu.23403-BIB0005|humu23403-cit-0005","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1183\/09031936.00176608","article-title":"Primary ciliary dyskinesia: A consensus statement on diagnostic and treatment approaches in children","volume":"34","author":"Barbato","year":"2009","journal-title":"European Respiratory Journal"},{"key":"10.1002\/humu.23403-BIB0006|humu23403-cit-0006","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng.727","article-title":"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation","volume":"43","author":"Becker-Heck","year":"2010","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23403-BIB0007|humu23403-cit-0007","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1183\/13993003.02018-2015","article-title":"Diagnosing primary ciliary dyskinesia: An international patient perspective","volume":"48","author":"Behan","year":"2016","journal-title":"European Respiratory Journsl"},{"key":"10.1002\/humu.23403-BIB0008|humu23403-cit-0008","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1136\/jmedgenet-2012-100867","article-title":"Delineation of CCDC39\/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia","volume":"49","author":"Blanchon","year":"2012","journal-title":"Journal of Medical Genetics"},{"key":"10.1002\/humu.23403-BIB0009|humu23403-cit-0009","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1016\/j.jmoldx.2016.07.002","article-title":"Diagnosis of primary ciliary dyskinesia by a targeted next-generation sequencing panel: Molecular and clinical findings in Italian patients","volume":"18","author":"Boaretto","year":"2016","journal-title":"Journal of Molecular Diagnostics"},{"key":"10.1002\/humu.23403-BIB0010|humu23403-cit-0010","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: A flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.23403-BIB0011|humu23403-cit-0011","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1164\/rccm.201409-1672OC","article-title":"Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype","volume":"191","author":"Davis","year":"2015","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1002\/humu.23403-BIB0012|humu23403-cit-0012","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1002\/ppul.23261","article-title":"An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia","volume":"51","author":"Djakow","year":"2016","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/humu.23403-BIB0013|humu23403-cit-0013","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: Ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.23403-BIB0014|humu23403-cit-0014","doi-asserted-by":"crossref","first-page":"3336","DOI":"10.1073\/pnas.0611405104","article-title":"A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia","volume":"104","author":"Duriez","year":"2007","journal-title":"Proceedings of National Academy of Sciences United States of America"},{"key":"10.1002\/humu.23403-BIB0015|humu23403-cit-0015","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1165\/rcmb.2009-0453OC","article-title":"Do airway epithelium air-liquid cultures represent the in vivo airway epithelium transcriptome?","volume":"44","author":"Dvorak","year":"2011","journal-title":"American Journal of Respiratory and Cell Molecular Biology"},{"key":"10.1002\/humu.23403-BIB0016|humu23403-cit-0016","doi-asserted-by":"crossref","first-page":"2376","DOI":"10.1183\/09031936.97.10102376","article-title":"Longitudinal study of lung function in a cohort of primary ciliary dyskinesia","volume":"10","author":"Ellerman","year":"1997","journal-title":"European Respiratory Journal"},{"key":"10.1002\/humu.23403-BIB0017|humu23403-cit-0017","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":"Journal of Medical Genetics"},{"key":"10.1002\/humu.23403-BIB0018|humu23403-cit-0018","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":"Nature Reviews Molecular Cell Biology"},{"key":"10.1002\/humu.23403-BIB0019|humu23403-cit-0019","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1161\/CIRCGENETICS.114.000950","article-title":"Beneficial outcome of Losartan therapy depends on type of FBN1 mutation in Marfan syndrome","volume":"8","author":"Franken","year":"2015","journal-title":"Circulation. Cardiovascular Genetics"},{"key":"10.1002\/humu.23403-BIB0020|humu23403-cit-0020","doi-asserted-by":"crossref","first-page":"1601181","DOI":"10.1183\/13993003.01181-2016","article-title":"The international primary ciliary dyskinesia cohort (iPCD Cohort): Methods and first results","volume":"49","author":"Goutaki","year":"2017","journal-title":"European Respiratory Journal"},{"key":"10.1002\/humu.23403-BIB0021|humu23403-cit-0021","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1183\/13993003.00736-2016","article-title":"Clinical manifestations in primary ciliary dyskinesia: Systematic review and meta-analysis","volume":"48","author":"Goutaki","year":"2016","journal-title":"European Respiratory Journal"},{"key":"10.1002\/humu.23403-BIB0022|humu23403-cit-0022","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s004310050843","article-title":"Primary ciliary dyskinesia: Evolution of pulmonary function","volume":"157","author":"Hellinckx","year":"1998","journal-title":"European Journal of Pediatrics"},{"key":"10.1002\/humu.23403-BIB0023|humu23403-cit-0023","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.prrv.2015.09.001","article-title":"Genetics and biology of primary ciliary dyskinesia","author":"Horani","year":"2016","journal-title":"Paediatric Respiratory Review"},{"key":"10.1002\/humu.23403-BIB0024|humu23403-cit-0024","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":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1002\/humu.23403-BIB0025|humu23403-cit-0025","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2016.06.022","article-title":"Mutations in DNAJB13, Encoding an HSP40 family member, cause primary ciliary dyskinesia and male infertility","volume":"99","author":"El Khouri","year":"2016","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23403-BIB0026|humu23403-cit-0026","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.ajhg.2013.07.025","article-title":"Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms 2013","volume":"93","author":"Knowles","year":"2013","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23403-BIB0027|humu23403-cit-0027","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1164\/rccm.201311-2047OC","article-title":"Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype","volume":"189","author":"Knowles","year":"2014","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1002\/humu.23403-BIB0028|humu23403-cit-0028","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":"European Respiratory Journal"},{"key":"10.1002\/humu.23403-BIB0029|humu23403-cit-0029","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.ajhg.2009.10.018","article-title":"Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects","volume":"85","author":"Loges","year":"2009","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23403-BIB0030|humu23403-cit-0030","first-page":"8","article-title":"Diagnostic methods in primary ciliary dyskinesia","author":"Lucas","year":"2016a","journal-title":"Paediatics Research"},{"issue":"1","key":"10.1002\/humu.23403-BIB0031|humu23403-cit-0031","doi-asserted-by":"crossref","first-page":"1601090","DOI":"10.1183\/13993003.01090-2016","article-title":"European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia","volume":"49","author":"Lucas","year":"2016b","journal-title":"European Respiratory Journal"},{"key":"10.1002\/humu.23403-BIB0032|humu23403-cit-0032","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1016\/j.prrv.2015.07.017","article-title":"Diagnostic methods in primary ciliary dyskinesia","volume":"18","author":"Lucas","year":"2017","journal-title":"Paediatics Respiratory Reviews"},{"key":"10.1002\/humu.23403-BIB0033|humu23403-cit-0033","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1534\/g3.115.019851","article-title":"Whole Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia","volume":"5","author":"Marshall","year":"2015","journal-title":"G3 (Bethesda)"},{"key":"10.1002\/humu.23403-BIB0034|humu23403-cit-0034","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1164\/rccm.200811-1731OC","article-title":"Lung function in patients with primary ciliary dyskinesia: A cross-sectional and 3-decade longitudinal study","volume":"181","author":"Marthin","year":"2010","journal-title":"American Journal of Respiratory and Critical Care Medicine"},{"key":"10.1002\/humu.23403-BIB0035|humu23403-cit-0035","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng817","article-title":"Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry","volume":"30","author":"Olbrich","year":"2002","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23403-BIB0036|humu23403-cit-0036","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2012.08.016","article-title":"Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry","volume":"91","author":"Olbrich","year":"2012","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23403-BIB0037|humu23403-cit-0037","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ajhg.2012.11.002","article-title":"Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia","volume":"92","author":"Onoufriadis","year":"2013","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23403-BIB0038|humu23403-cit-0038","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1074\/mcp.M200037-MCP200","article-title":"A proteomic analysis of human cilia: Identification of novel components","volume":"1","author":"Ostrowski","year":"2002","journal-title":"Molecular & Cellular Proteomics"},{"issue":"1","key":"10.1002\/humu.23403-BIB0039|humu23403-cit-0039","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ajhg.2016.11.019","article-title":"Mutations in PIH1D3 Cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects","volume":"100","author":"Paff","year":"2016","journal-title":"American Journal of Human Genetics"},{"issue":"1","key":"10.1002\/humu.23403-BIB0049|humu23403-cit-0049","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.ajhg.2016.11.019","article-title":"Mutations in PIH1D3 Cause X-linked primary ciliary dyskinesia with outer and inner dynein arm defects","volume":"100","author":"Paff","year":"2017","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23403-BIB0040|humu23403-cit-0040","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/ng.2277","article-title":"CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms","volume":"44","author":"Panizzi","year":"2012","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23403-BIB0041|humu23403-cit-0041","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1086\/302683","article-title":"Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia","volume":"65","author":"Pennarun","year":"1999","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23403-BIB0042|humu23403-cit-0042","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"edgeR: A bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1002\/humu.23403-BIB0043|humu23403-cit-0043","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1165\/rcmb.2006-0466OC","article-title":"Transcriptional profiling of mucociliary differentiation in human airway epithelial cells","volume":"37","author":"Ross","year":"2007","journal-title":"American Journal of Respiratory Cell and Molecular Biology"},{"key":"10.1002\/humu.23403-BIB0044|humu23403-cit-0044","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1183\/13993003.00209-2016","article-title":"A longitudinal study characterising a large adult primary ciliary dyskinesia population","volume":"48","author":"Shah","year":"2016","journal-title":"European Respiratory Journal"},{"key":"10.1002\/humu.23403-BIB0045|humu23403-cit-0045","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ppul.23304","article-title":"Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review","volume":"51","author":"Shapiro","year":"2016","journal-title":"Pediatric Pulmonology"},{"key":"10.1002\/humu.23403-BIB0046|humu23403-cit-0046","doi-asserted-by":"crossref","first-page":"2184","DOI":"10.1093\/bioinformatics\/bts356","article-title":"RSeQC: Quality control of RNA-seq experiments","volume":"28","author":"Wang","year":"2012","journal-title":"Bioinformatics"},{"issue":"Suppl 2","key":"10.1002\/humu.23403-BIB0047|humu23403-cit-0047","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.jcf.2004.05.011","article-title":"Sequential monolayer-suspension culture of human airway epithelial cells","volume":"3","author":"Willems","year":"2004","journal-title":"Journal of Cystic Fibrosis"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23403","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:56:23Z","timestamp":1672332983000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,9]]},"references-count":48,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23403","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3,9]]}}}