{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T19:21:50Z","timestamp":1792092110766,"version":"4.4.0"},"reference-count":61,"publisher":"European Respiratory Society (ERS)","issue":"2","license":[{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NV19-07-00210"],"award-info":[{"award-number":["NV19-07-00210"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI20\/01419"],"award-info":[{"award-number":["PI20\/01419"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Interdisziplinaeres Zentrum f\u00fcr Klinische Forschung Muenster","award":["Om2\/009\/12"],"award-info":[{"award-number":["Om2\/009\/12"]}]},{"name":"Interdisziplinaeres Zentrum f\u00fcr Klinische Forschung Muenster","award":["Om2\/010\/20"],"award-info":[{"award-number":["Om2\/010\/20"]}]},{"name":"Interdisziplinaeres Zentrum f\u00fcr Klinische Forschung Muenster","award":["Om2\/015\/16"],"award-info":[{"award-number":["Om2\/015\/16"]}]},{"name":"Registry Warehouse","award":["Horizon2020 GA 777295"],"award-info":[{"award-number":["Horizon2020 GA 777295"]}]},{"DOI":"10.13039\/501100000362","name":"Asthma and Lung UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000362","id-type":"DOI","asserted-by":"publisher"}]},{"name":"BIH","award":["Case Analysis and Decision Support (CADS) program"],"award-info":[{"award-number":["Case Analysis and Decision Support (CADS) program"]}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NHS England","award":["to the National UK PCD service"],"award-info":[{"award-number":["to the National UK PCD service"]}]},{"name":"Motol University Hospital, Prague, Czech Republic","award":["00064203 (conceptual development of research)"],"award-info":[{"award-number":["00064203 (conceptual development of research)"]}]},{"name":"NIHR Biomedical Research Centre at Great Ormond Street Hospital"},{"DOI":"10.13039\/501100004281","name":"Polish National Science Centre","doi-asserted-by":"crossref","award":["2018\/31\/B\/NZ2\/03248"],"award-info":[{"award-number":["2018\/31\/B\/NZ2\/03248"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100005111","name":"Rigshospitalet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005111","id-type":"DOI","asserted-by":"publisher"}]},{"name":"B\u00f8rnelungefonden"},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["431232613"],"award-info":[{"award-number":["431232613"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["CRC1449"],"award-info":[{"award-number":["CRC1449"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["CRU326"],"award-info":[{"award-number":["CRU326"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DFG OL 450\/1"],"award-info":[{"award-number":["DFG OL 450\/1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["OM6\/10"],"award-info":[{"award-number":["OM6\/10"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["OM6\/14"],"award-info":[{"award-number":["OM6\/14"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["OM6\/7"],"award-info":[{"award-number":["OM6\/7"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["OM6\/8"],"award-info":[{"award-number":["OM6\/8"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Z02"],"award-info":[{"award-number":["Z02"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Society of Paediatrics","award":["Invest-AEP 2021"],"award-info":[{"award-number":["Invest-AEP 2021"]}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["82DZL009B1"],"award-info":[{"award-number":["82DZL009B1"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["publications.ersnet.org"],"crossmark-restriction":true},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2024,5,3]]},"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders characterised by deficient ciliary airway clearance that can be associated with laterality defects. We aimed to describe the underlying gene defects, geographical differences in genotypes and their relationship to diagnostic findings and clinical phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Genetic variants and clinical findings (age, sex, body mass index, laterality defects, forced expiratory volume in 1\u2005s (FEV\n                      <jats:sub>1<\/jats:sub>\n                      )) were collected from 19 countries using the European Reference Network's ERN-LUNG international PCD Registry. Genetic data were evaluated according to American College of Medical Genetics and Genomics guidelines. We assessed regional distribution of implicated genes and genetic variants as well as genotype correlations with laterality defects and FEV\n                      <jats:sub>1<\/jats:sub>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The study included 1236 individuals carrying 908 distinct pathogenic DNA variants in 46 PCD genes. We found considerable variation in the distribution of PCD genotypes across countries due to the presence of distinct founder variants. The prevalence of PCD genotypes associated with pathognomonic ultrastructural defects (mean 72%, range 47\u2013100%) and laterality defects (mean 42%, range 28\u201369%) varied widely among countries. The prevalence of laterality defects was significantly lower in PCD individuals without pathognomonic ciliary ultrastructure defects (18%). The PCD cohort had a reduced median FEV\n                      <jats:sub>1<\/jats:sub>\n                      z-score (\u22121.66). Median FEV\n                      <jats:sub>1<\/jats:sub>\n                      z-scores were significantly lower in\n                      <jats:italic>CCNO<\/jats:italic>\n                      (\u22123.26),\n                      <jats:italic>CCDC39<\/jats:italic>\n                      (\u22122.49) and\n                      <jats:italic>CCDC40<\/jats:italic>\n                      (\u22122.96) variant groups, while the FEV\n                      <jats:sub>1<\/jats:sub>\n                      z-score reductions were significantly milder in\n                      <jats:italic>DNAH11<\/jats:italic>\n                      (\u22120.83) and\n                      <jats:italic>ODAD1<\/jats:italic>\n                      (\u22120.85) variant groups compared to the whole PCD cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This unprecedented multinational dataset of DNA variants and information on their distribution across countries facilitates interpretation of the genetic epidemiology of PCD and indicates that the genetic variant can predict diagnostic and phenotypic features such as the course of lung function.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1183\/13993003.01769-2023","type":"journal-article","created":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T10:53:14Z","timestamp":1718275994000},"page":"2301769","update-policy":"https:\/\/doi.org\/10.1183\/ers-crossmark-policy","source":"Crossref","is-referenced-by-count":81,"title":["Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype\u2013phenotype correlations"],"prefix":"10.1183","volume":"64","author":[{"given":"Johanna","family":"Raidt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Riepenhausen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Pennekamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Olbrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6917-5285","authenticated-orcid":false,"given":"Israel","family":"Amirav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9399-5275","authenticated-orcid":false,"given":"Rodrigo A.","family":"Athanazio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Micha","family":"Aviram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan E.","family":"Balinotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7259-4539","authenticated-orcid":false,"given":"Ophir","family":"Bar-On","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian F.N.","family":"Bode","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke","family":"Boon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Borrelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0580-2478","authenticated-orcid":false,"given":"Siobhan B.","family":"Carr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Crowley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Dehlink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Diepenhorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Durdik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernd","family":"Dworniczak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1405-8401","authenticated-orcid":false,"given":"Nagehan","family":"Emiralio\u011flu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ela","family":"Erdem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Fonnesu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Gracci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"Gro\u00dfe-Onnebrink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina","family":"Gwozdziewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric G.","family":"Haarman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine R.","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Hogg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9944-6253","authenticated-orcid":false,"given":"Mathias G.","family":"Holgersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4635-386X","authenticated-orcid":false,"given":"Eitan","family":"Kerem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"K\u00f6rner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5026-5267","authenticated-orcid":false,"given":"Karsten","family":"K\u00f6tz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0511-5352","authenticated-orcid":false,"given":"Panayiotis","family":"Kouis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Loebinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2653-5885","authenticated-orcid":false,"given":"Natalie","family":"Lorent","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"}]},{"given":"Debora","family":"Maj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4057-2199","authenticated-orcid":false,"given":"Marcus A.","family":"Mall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4420-3091","authenticated-orcid":false,"given":"June K.","family":"Marthin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vendula","family":"Martinu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henryk","family":"Mazurek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah M.","family":"Mitchison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabea","family":"N\u00f6the-Menchen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ugur","family":"\u00d6z\u00e7elik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Pifferi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrzej","family":"Pogorzelski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9084-4968","authenticated-orcid":false,"given":"Felix C.","family":"Ringshausen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-8852","authenticated-orcid":false,"given":"Jobst F.","family":"Roehmel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Rovira-Amigo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nisreen","family":"Rumman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6737-3624","authenticated-orcid":false,"given":"Anne","family":"Schlegtendal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7360-6060","authenticated-orcid":false,"given":"Amelia","family":"Shoemark","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Synne","family":"Sperstad Kennelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben O.","family":"Staar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sivagurunathan","family":"Sutharsan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Ullmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Varghese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"von Hardenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woolf T.","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Wetzke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Witt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panayiotis","family":"Yiallouros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Zschocke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Zi\u0119tkiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim G.","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0282-6765","authenticated-orcid":false,"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"81","published-online":{"date-parts":[[2024,6,13]]},"reference":[{"key":"2024102103315202000_64.2.2301769.1","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/s41572-020-0209-6","article-title":"Motile ciliopathies","volume":"6","author":"Wallmeier","year":"2020","journal-title":"Nat Rev Dis Primers"},{"key":"2024102103315202000_64.2.2301769.2","doi-asserted-by":"crossref","unstructured":"Pennekamp P , Raidt J , Wohlgemuth K , et al. Primary ciliary dyskinesia. In: Wagner TOF , Humbert M , Wijsenbeek M , et al. , eds. Rare Diseases of the Respiratory System. Sheffield, European Respiratory Society, 2023; pp. 118\u2013134.","DOI":"10.1183\/2312508X.10017922"},{"key":"2024102103315202000_64.2.2301769.3","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1513\/AnnalsATS.202106-728OC","article-title":"Limitations of nasal nitric oxide measurement for diagnosis of primary ciliary dyskinesia with normal ultrastructure","volume":"19","author":"Raidt","year":"2022","journal-title":"Ann Am Thorac Soc"},{"key":"2024102103315202000_64.2.2301769.4","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02359-2020"},{"key":"2024102103315202000_64.2.2301769.5","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.202206-524OC"},{"key":"2024102103315202000_64.2.2301769.6","doi-asserted-by":"crossref","first-page":"1704","DOI":"10.1513\/AnnalsATS.202110-1175OC","article-title":"High nasal nitric oxide, cilia analyses, and genotypes in a retrospective cohort of children with primary ciliary dyskinesia","volume":"19","author":"Legendre","year":"2022","journal-title":"Ann Am Thorac Soc"},{"key":"2024102103315202000_64.2.2301769.7","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/ppul.24583","article-title":"Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: first results from Turkey","volume":"55","author":"Emiralio\u011flu","year":"2020","journal-title":"Pediatr Pulmonol"},{"key":"2024102103315202000_64.2.2301769.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106501"},{"key":"2024102103315202000_64.2.2301769.9","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1002\/humu.24196","article-title":"Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: an island with a high disease prevalence","volume":"42","author":"Yiallouros","year":"2021","journal-title":"Hum Mutat"},{"key":"2024102103315202000_64.2.2301769.10","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00714-2022"},{"key":"2024102103315202000_64.2.2301769.11","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00776-2015"},{"key":"2024102103315202000_64.2.2301769.12","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00005-2020"},{"key":"2024102103315202000_64.2.2301769.13","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00139-2022"},{"key":"2024102103315202000_64.2.2301769.14","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2024102103315202000_64.2.2301769.15","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00725-2019"},{"key":"2024102103315202000_64.2.2301769.16","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/S2213-2600(21)00453-7","article-title":"The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis","volume":"10","author":"Hannah","year":"2022","journal-title":"Lancet Respir Med"},{"key":"2024102103315202000_64.2.2301769.17","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200601-084OC"},{"key":"2024102103315202000_64.2.2301769.18","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2023.8120"},{"key":"2024102103315202000_64.2.2301769.19","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/S2213-2600(19)30337-6","article-title":"The future of cystic fibrosis care: a global perspective","volume":"8","author":"Bell","year":"2020","journal-title":"Lancet Respir Med"},{"key":"2024102103315202000_64.2.2301769.20","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200603-370OC"},{"key":"2024102103315202000_64.2.2301769.21","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22261"},{"key":"2024102103315202000_64.2.2301769.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.002"},{"key":"2024102103315202000_64.2.2301769.23","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1002\/ajmg.c.31968","article-title":"Primary ciliary dyskinesia in Volendam: diagnostic and phenotypic features in patients with a CCDC114 mutation","volume":"190","author":"Kos","year":"2022","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2024102103315202000_64.2.2301769.24","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23261"},{"key":"2024102103315202000_64.2.2301769.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.003"},{"key":"2024102103315202000_64.2.2301769.26","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2277"},{"key":"2024102103315202000_64.2.2301769.27","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2017-209999"},{"key":"2024102103315202000_64.2.2301769.28","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.016"},{"key":"2024102103315202000_64.2.2301769.29","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1165\/rcmb.2018-0260OC","article-title":"CFAP300: mutations in Slavic patients with primary ciliary dyskinesia and a role in ciliary dynein arms trafficking","volume":"61","author":"Zietkiewicz","year":"2019","journal-title":"Am J Respir Cell Mol Biol"},{"key":"2024102103315202000_64.2.2301769.30","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1016\/j.ajhg.2018.03.025","article-title":"Mutations in C11orf70 cause primary ciliary dyskinesia with randomization of left\/right body asymmetry due to defects of outer and inner dynein arms","volume":"102","author":"H\u00f6ben","year":"2018","journal-title":"Am J Hum Genet"},{"key":"2024102103315202000_64.2.2301769.31","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2961"},{"key":"2024102103315202000_64.2.2301769.32","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22957"},{"key":"2024102103315202000_64.2.2301769.33","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5418"},{"key":"2024102103315202000_64.2.2301769.34","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.018"},{"key":"2024102103315202000_64.2.2301769.35","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.21037\/jtd.2019.04.71","article-title":"Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus","volume":"11","author":"Yiallouros","year":"2019","journal-title":"J Thorac Dis"},{"key":"2024102103315202000_64.2.2301769.36","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1513\/AnnalsATS.202007-816OC","article-title":"Longitudinal lung volume changes by ultrastructure and genotype in primary ciliary dyskinesia","volume":"18","author":"Pifferi","year":"2021","journal-title":"Ann Am Thorac Soc"},{"key":"2024102103315202000_64.2.2301769.37","doi-asserted-by":"publisher","DOI":"10.1165\/rcmb.2014-0483OC"},{"key":"2024102103315202000_64.2.2301769.38","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2016.07.002"},{"key":"2024102103315202000_64.2.2301769.39","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.009"},{"key":"2024102103315202000_64.2.2301769.40","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"2024102103315202000_64.2.2301769.41","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"},{"key":"2024102103315202000_64.2.2301769.42","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/pr.2016.263","article-title":"Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis","volume":"81","author":"Kouis","year":"2017","journal-title":"Pediatr Res"},{"key":"2024102103315202000_64.2.2301769.43","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00209-2016"},{"key":"2024102103315202000_64.2.2301769.44","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00392-2021"},{"key":"2024102103315202000_64.2.2301769.45","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00231-2018"},{"key":"2024102103315202000_64.2.2301769.46","doi-asserted-by":"crossref","first-page":"172","DOI":"10.4274\/tjh.2016.0149","article-title":"Clinical interpretation of genomic variations","volume":"33","author":"Sayito\u011flu","year":"2016","journal-title":"Turk J Haematol"},{"key":"2024102103315202000_64.2.2301769.47","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201910-1943so"},{"key":"2024102103315202000_64.2.2301769.48","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1056\/NEJMoa2100665","article-title":"Triple therapy for cystic fibrosis Phe508del-gating and -residual function genotypes","volume":"385","author":"Barry","year":"2021","journal-title":"N Engl J Med"},{"key":"2024102103315202000_64.2.2301769.49","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1908639"},{"key":"2024102103315202000_64.2.2301769.50","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":"2024102103315202000_64.2.2301769.51","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.649038"},{"key":"2024102103315202000_64.2.2301769.52","doi-asserted-by":"publisher","DOI":"10.1378\/chest.13-1704"},{"key":"2024102103315202000_64.2.2301769.53","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1513\/AnnalsATS.202206-487OC","article-title":"Laterality defects in primary ciliary dyskinesia: relationship to ultrastructural defect or genotype","volume":"20","author":"Barber","year":"2023","journal-title":"Ann Am Thorac Soc"},{"key":"2024102103315202000_64.2.2301769.54","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00001010"},{"key":"2024102103315202000_64.2.2301769.55","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2020.02.001"},{"key":"2024102103315202000_64.2.2301769.56","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201803-0548OC"},{"key":"2024102103315202000_64.2.2301769.57","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2015-207891"},{"key":"2024102103315202000_64.2.2301769.58","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201409-1672OC"},{"key":"2024102103315202000_64.2.2301769.59","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.chest.2022.02.052","article-title":"Comparison of the lung clearance index in preschool children with primary ciliary dyskinesia and cystic fibrosis","volume":"162","author":"Roehmel","year":"2022","journal-title":"Chest"},{"key":"2024102103315202000_64.2.2301769.60","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1007\/s00408-018-0086-x","article-title":"Primary ciliary dyskinesia due to microtubular defects is associated with worse lung clearance index","volume":"196","author":"Irving","year":"2018","journal-title":"Lung"},{"key":"2024102103315202000_64.2.2301769.61","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201311-2047OC"}],"container-title":["European Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1183\/13993003.01769-2023","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,24]],"date-time":"2025-02-24T02:20:59Z","timestamp":1740363659000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.ersnet.org\/lookup\/doi\/10.1183\/13993003.01769-2023"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,13]]},"references-count":61,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,8,8]]},"published-print":{"date-parts":[[2024,8]]}},"alternative-id":["10.1183\/13993003.01769-2023"],"URL":"https:\/\/doi.org\/10.1183\/13993003.01769-2023","relation":{},"ISSN":["0903-1936","1399-3003"],"issn-type":[{"value":"0903-1936","type":"print"},{"value":"1399-3003","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,13]]}}}