{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T21:44:40Z","timestamp":1791582280827,"version":"4.3.4"},"reference-count":60,"publisher":"European Respiratory Society (ERS)","issue":"5","license":[{"start":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T00:00:00Z","timestamp":1655769600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.ersjournals.com\/user-licence"}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2022,5,12]]},"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60\u201380% of cases are idiopathic, but a well-recognised genetic cause is the motile ciliopathy, primary ciliary dyskinesia (PCD). Diagnosis of PCD has management implications including addressing comorbidities, implementing genetic and fertility counselling and future access to PCD-specific treatments. Diagnostic testing can be complex; however, PCD genetic testing is moving rapidly from research into clinical diagnostics and would confirm the cause of bronchiectasis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This observational study used genetic data from severe bronchiectasis patients recruited to the UK 100,000 Genomes Project and patients referred for gene panel testing within a tertiary respiratory hospital. Patients referred for genetic testing due to clinical suspicion of PCD were excluded from both analyses. Data were accessed from the British Thoracic Society audit, to investigate whether motile ciliopathies are underdiagnosed in people with bronchiectasis in the UK.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Pathogenic or likely pathogenic variants were identified in motile ciliopathy genes in 17 (12%) out of 142 individuals by whole-genome sequencing. Similarly, in a single centre with access to pathological diagnostic facilities, 5\u201310% of patients received a PCD diagnosis by gene panel, often linked to normal\/inconclusive nasal nitric oxide and cilia functional test results. In 4898 audited patients with bronchiectasis, &lt;2% were tested for PCD and &lt;1% received genetic testing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>PCD is underdiagnosed as a cause of bronchiectasis. Increased uptake of genetic testing may help to identify bronchiectasis due to motile ciliopathies and ensure appropriate management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1183\/13993003.00176-2022","type":"journal-article","created":{"date-parts":[[2022,6,21]],"date-time":"2022-06-21T20:45:19Z","timestamp":1655844319000},"page":"2200176","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":60,"title":["Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis"],"prefix":"10.1183","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7360-6060","authenticated-orcid":false,"given":"Amelia","family":"Shoemark","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Griffin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Wheway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hogg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8701-9975","authenticated-orcid":false,"given":"Jane S.","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carme","family":"Camps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Loebinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James D.","family":"Chalmers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Morris-Rosendahl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah M.","family":"Mitchison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8566-0344","authenticated-orcid":false,"given":"Anthony","family":"De Soyza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Genomics England Research Consortium:","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.C.","family":"Ambrose","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Arumugam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Bevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bleda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Boardman-Pretty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.R.","family":"Boustred","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Brittain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Caulfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.C.","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Fowler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Giess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Hamblin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Henderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.J.P.","family":"Hubbard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.J.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kasperaviciute","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Kayikci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Kousathanas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Lahnstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.E.A.","family":"Leigh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.U.S.","family":"Leong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.J.","family":"Lopez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Maleady-Crowe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"McEntagart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Minneci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Moutsianas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mueller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Murugaesu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.C.","family":"Need","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"O'Donovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.A.","family":"Odhams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Patch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Perez-Gil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.B.","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Pullinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Rahim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Rendon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Rogers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Savage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Sawant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.H.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Siddiq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sieghart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.C.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Sosinsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Stuckey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tanguy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.L.","family":"Taylor Tavares","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.R.A.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.R.","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Tucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Welland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Witkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.M.","family":"Wood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2022,6,21]]},"reference":[{"key":"2024102102584500000_60.5.2200176.1","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/S2213-2600(21)00277-0","article-title":"Criteria and definitions for the radiological and clinical diagnosis of bronchiectasis in adults for use in clinical trials: international consensus recommendations","volume":"10","author":"Aliberti","year":"2022","journal-title":"Lancet Respir Med"},{"key":"2024102102584500000_60.5.2200176.2","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1016\/S0140-6736(18)31767-7","article-title":"Advances in bronchiectasis: endotyping, genetics, microbiome, and disease heterogeneity","volume":"392","author":"Flume","year":"2018","journal-title":"Lancet"},{"key":"2024102102584500000_60.5.2200176.3","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00629-2017"},{"key":"2024102102584500000_60.5.2200176.4","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2018-212463"},{"key":"2024102102584500000_60.5.2200176.5","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01289-2017"},{"key":"2024102102584500000_60.5.2200176.6","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s40248-018-0143-6","article-title":"Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis","volume":"13","author":"Contarini","year":"2018","journal-title":"Multidiscip Respir Med"},{"key":"2024102102584500000_60.5.2200176.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2006.11.008"},{"key":"2024102102584500000_60.5.2200176.8","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201507-472OC"},{"key":"2024102102584500000_60.5.2200176.9","doi-asserted-by":"crossref","first-page":"27","DOI":"10.3389\/fped.2017.00027","article-title":"The epidemiology of chronic suppurative lung disease and bronchiectasis in children and adolescents","volume":"5","author":"McCallum","year":"2017","journal-title":"Front Pediatr"},{"key":"2024102102584500000_60.5.2200176.10","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/s41572-018-0042-3","article-title":"Bronchiectasis","volume":"4","author":"Chalmers","year":"2018","journal-title":"Nat Rev Dis Primers"},{"key":"2024102102584500000_60.5.2200176.11","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1159\/000360297","article-title":"Quality of life in children with non-cystic-fibrosis bronchiectasis","volume":"88","author":"Gokdemir","year":"2014","journal-title":"Respiration"},{"key":"2024102102584500000_60.5.2200176.12","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S2213-2600(20)30058-8","article-title":"Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial","volume":"8","author":"Kobbernagel","year":"2020","journal-title":"Lancet Respir Med"},{"key":"2024102102584500000_60.5.2200176.13","doi-asserted-by":"crossref","first-page":"9834","DOI":"10.3390\/ijms22189834","article-title":"Current and future treatments in primary ciliary dyskinesia","volume":"22","author":"Paff","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2024102102584500000_60.5.2200176.14","doi-asserted-by":"publisher","DOI":"10.1016\/s2213-2600(19)30374-1"},{"key":"2024102102584500000_60.5.2200176.15","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"2024102102584500000_60.5.2200176.16","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"},{"key":"2024102102584500000_60.5.2200176.17","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1164\/rccm.201907-1334LE","article-title":"The controversies and difficulties of diagnosing primary ciliary dyskinesia","volume":"201","author":"Shoemark","year":"2020","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102102584500000_60.5.2200176.18","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00209-2016"},{"key":"2024102102584500000_60.5.2200176.19","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2013-304831"},{"key":"2024102102584500000_60.5.2200176.20","unstructured":"Genomics England . The National Genomics Research and Healthcare Knowledgebase version 5. 2019. Available from: https:\/\/figshare.com\/articles\/dataset\/GenomicEnglandProtocol_pdf\/4530893\/5 10.6084\/m9.figshare.4530893.v5"},{"key":"2024102102584500000_60.5.2200176.21","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00127"},{"key":"2024102102584500000_60.5.2200176.22","doi-asserted-by":"publisher","DOI":"10.1016\/J.CELL.2018.12.015"},{"key":"2024102102584500000_60.5.2200176.23","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1093\/bioinformatics\/btaa783","article-title":"Annotating high-impact 5\u2032 untranslated region variants with the UTRannotator","volume":"37","author":"Zhang","year":"2021","journal-title":"Bioinformatics"},{"key":"2024102102584500000_60.5.2200176.24","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2024102102584500000_60.5.2200176.25","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.chest.2019.01.036","article-title":"Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia","volume":"155","author":"Rubbo","year":"2019","journal-title":"Chest"},{"key":"2024102102584500000_60.5.2200176.26","doi-asserted-by":"publisher","DOI":"10.1136\/jclinpath-2011-200415"},{"key":"2024102102584500000_60.5.2200176.27","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1164\/rccm.201607-1351OC","article-title":"Accuracy of immunofluorescence in the diagnosis of primary ciliary dyskinesia","volume":"196","author":"Shoemark","year":"2017","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102102584500000_60.5.2200176.28","doi-asserted-by":"publisher","DOI":"10.1136\/bmjresp-2018-000348"},{"key":"2024102102584500000_60.5.2200176.29","doi-asserted-by":"publisher","DOI":"10.1038\/ng.726"},{"key":"2024102102584500000_60.5.2200176.30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.007"},{"key":"2024102102584500000_60.5.2200176.31","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200603-370OC"},{"key":"2024102102584500000_60.5.2200176.32","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.003"},{"key":"2024102102584500000_60.5.2200176.33","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200601-084OC"},{"key":"2024102102584500000_60.5.2200176.34","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2011-200301"},{"key":"2024102102584500000_60.5.2200176.35","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.022"},{"key":"2024102102584500000_60.5.2200176.36","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.013"},{"key":"2024102102584500000_60.5.2200176.37","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2014-0483OC"},{"key":"2024102102584500000_60.5.2200176.38","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.06.028"},{"key":"2024102102584500000_60.5.2200176.39","doi-asserted-by":"publisher","DOI":"10.1183\/20734735.000218"},{"key":"2024102102584500000_60.5.2200176.40","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034868"},{"key":"2024102102584500000_60.5.2200176.41","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0210-5"},{"key":"2024102102584500000_60.5.2200176.42","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105918"},{"key":"2024102102584500000_60.5.2200176.43","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/s41591-019-0730-x","article-title":"A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance","volume":"26","author":"Chivukula","year":"2020","journal-title":"Nat Med"},{"key":"2024102102584500000_60.5.2200176.44","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1007\/s00439-020-02170-2","article-title":"An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia","volume":"139","author":"Shamseldin","year":"2020","journal-title":"Hum Genet"},{"key":"2024102102584500000_60.5.2200176.45","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1038\/s41436-020-0761-1","article-title":"The morbid genome of ciliopathies: an update","volume":"22","author":"Shamseldin","year":"2020","journal-title":"Genet Med"},{"key":"2024102102584500000_60.5.2200176.46","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22738"},{"key":"2024102102584500000_60.5.2200176.47","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100457"},{"key":"2024102102584500000_60.5.2200176.48","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2277"},{"key":"2024102102584500000_60.5.2200176.49","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.12.009"},{"key":"2024102102584500000_60.5.2200176.50","doi-asserted-by":"crossref","first-page":"e0252786","DOI":"10.1371\/journal.pone.0252786","article-title":"DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease","volume":"16","author":"Xia","year":"2021","journal-title":"PLoS One"},{"key":"2024102102584500000_60.5.2200176.51","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2017-209999"},{"key":"2024102102584500000_60.5.2200176.52","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22261"},{"key":"2024102102584500000_60.5.2200176.53","doi-asserted-by":"publisher","DOI":"10.1038\/ng.727"},{"key":"2024102102584500000_60.5.2200176.54","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22632"},{"key":"2024102102584500000_60.5.2200176.55","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1164\/rccm.202003-0835LE","article-title":"Limitations of nasal nitric oxide testing in primary ciliary dyskinesia","volume":"202","author":"Shapiro","year":"2020","journal-title":"Am J Respir Crit Care Med"},{"key":"2024102102584500000_60.5.2200176.56","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1186\/s12920-021-01084-w","article-title":"Whole genome sequencing in the diagnosis of primary ciliary dyskinesia","volume":"14","author":"Wheway","year":"2021","journal-title":"BMC Med Genomics"},{"key":"2024102102584500000_60.5.2200176.57","first-page":"142","article-title":"Overcoming challenges in the management of primary ciliary dyskinesia: the UK model","volume":"15","author":"Lucas","year":"2014","journal-title":"Paediatr Respir Rev"},{"key":"2024102102584500000_60.5.2200176.58","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/humu.23403","article-title":"Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients","volume":"39","author":"Paff","year":"2018","journal-title":"Hum Mutat"},{"key":"2024102102584500000_60.5.2200176.59","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106501"},{"key":"2024102102584500000_60.5.2200176.60","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00213-2020"}],"container-title":["European Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/13993003.00176-2022","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T02:07:45Z","timestamp":1740362865000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/13993003.00176-2022"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,21]]},"references-count":60,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2022,11,17]]},"published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1183\/13993003.00176-2022"],"URL":"https:\/\/doi.org\/10.1183\/13993003.00176-2022","relation":{},"ISSN":["0903-1936","1399-3003"],"issn-type":[{"value":"0903-1936","type":"print"},{"value":"1399-3003","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,21]]}}}