{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T18:13:52Z","timestamp":1790014432689,"version":"4.0.1"},"reference-count":34,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2016,11,1]],"date-time":"2016-11-01T00:00:00Z","timestamp":1477958400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T00:00:00Z","timestamp":1576195200000},"content-version":"vor","delay-in-days":1137,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","journals.elsevierhealth.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Molecular Diagnostics"],"published-print":{"date-parts":[[2016,11]]},"DOI":"10.1016\/j.jmoldx.2016.07.002","type":"journal-article","created":{"date-parts":[[2016,9,14]],"date-time":"2016-09-14T21:01:31Z","timestamp":1473886891000},"page":"912-922","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":53,"title":["Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel"],"prefix":"10.1016","volume":"18","author":[{"given":"Francesca","family":"Boaretto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Snijders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Salvoro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ambra","family":"Spalletta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Mostacciuolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Collura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Cazzato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Girosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michela","family":"Silvestri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni Arturo","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Barbato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Vazza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmoldx.2016.07.002_bib1","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1007\/s00405-010-1341-9","article-title":"ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities","volume":"268","author":"Sommer","year":"2011","journal-title":"Eur Arch Otorhinolaryngol"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib2","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1164\/rccm.200303-365OC","article-title":"Primary ciliary dyskinesia: diagnostic and phenotypic features","volume":"169","author":"Noone","year":"2004","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib3","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1164\/rccm.200903-0459OC","article-title":"Diagnostic testing of patients suspected of primary ciliary dyskinesia","volume":"181","author":"Stannard","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib4","doi-asserted-by":"crossref","first-page":"2814","DOI":"10.1161\/CIRCULATIONAHA.106.649038","article-title":"Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia","volume":"115","author":"Kennedy","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib5","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1378\/chest.13-1704","article-title":"Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy","volume":"146","author":"Shapiro","year":"2014","journal-title":"Chest"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib6","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1136\/adc.2006.096958","article-title":"Primary ciliary dyskinesia: current state of the art","volume":"92","author":"Bush","year":"2007","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib7","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":"10.1016\/j.jmoldx.2016.07.002_bib8","doi-asserted-by":"crossref","first-page":"491","DOI":"10.3390\/jcm3020491","article-title":"Genetic testing in the diagnosis of primary ciliary dyskinesia: state-of-the-art and future perspectives","volume":"3","author":"Collins","year":"2014","journal-title":"J Clin Med"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2014-102755","article-title":"Recent advances in primary ciliary dyskinesia genetics","volume":"52","author":"Kurkowiak","year":"2015","journal-title":"J Med Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib10","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1136\/jmg.2005.034868","article-title":"RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa","volume":"43","author":"Moore","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib11","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00439-006-0210-5","article-title":"A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome","volume":"120","author":"Budny","year":"2006","journal-title":"Hum Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib12","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1164\/rccm.201301-0059CI","article-title":"Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease","volume":"188","author":"Knowles","year":"2013","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib13","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/S0091-6749(03)01799-8","article-title":"Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia","volume":"112","author":"Chilvers","year":"2003","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib14","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":"10.1016\/j.jmoldx.2016.07.002_bib15","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/pr.2014.79","article-title":"Nasal NO, high-speed video microscopy, electron microscopy, and genetics: a primary ciliary dyskinesia puzzle to complete","volume":"76","author":"Snijders","year":"2014","journal-title":"Pediatr Res"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib16","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":"Eur Respir J"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib17","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1183\/09031936.99.13614069","article-title":"Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia","volume":"13","author":"Karadag","year":"1999","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib18","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":"10.1016\/j.jmoldx.2016.07.002_bib19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib20","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":"10.1016\/j.jmoldx.2016.07.002_bib21","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1002\/ppul.22520","article-title":"Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia","volume":"47","author":"Djakow","year":"2012","journal-title":"Pediatr Pulmonol"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib22","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1750-1172-9-11","article-title":"Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure","volume":"9","author":"Boon","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib23","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/j.ajhg.2012.10.003","article-title":"Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia","volume":"91","author":"Kott","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib24","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","volume":"93","author":"Knowles","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib25","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":"Nat Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib26","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":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib27","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.726","article-title":"CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs","volume":"43","author":"Merveille","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib28","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.ajhg.2013.07.013","article-title":"Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects","volume":"93","author":"Kott","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib29","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1183\/09031936.00108410","article-title":"Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required","volume":"38","author":"O'Callaghan","year":"2011","journal-title":"Eur Respir J"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib30","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/thoraxjnl-2011-200301","article-title":"Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure","volume":"67","author":"Knowles","year":"2012","journal-title":"Thorax"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib31","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":"Pediatr Pulmonol"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib32","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/nrg2142","article-title":"Translation matters: protein synthesis defects in inherited disease","volume":"8","author":"Scheper","year":"2007","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jmoldx.2016.07.002_bib33","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":"10.1016\/j.jmoldx.2016.07.002_bib34","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/j.ajhg.2015.08.012","article-title":"Loss-of-function GAS8 mutations cause primary ciliary dyskinesia and disrupt the nexin-dynein regulatory complex","volume":"97","author":"Olbrich","year":"2015","journal-title":"Am J Hum Genet"}],"container-title":["The Journal of Molecular Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157816301374?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525157816301374?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,12,13]],"date-time":"2019-12-13T12:47:07Z","timestamp":1576241227000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525157816301374"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":34,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["S1525157816301374"],"URL":"https:\/\/doi.org\/10.1016\/j.jmoldx.2016.07.002","relation":{},"ISSN":["1525-1578"],"issn-type":[{"value":"1525-1578","type":"print"}],"subject":[],"published":{"date-parts":[[2016,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel","name":"articletitle","label":"Article Title"},{"value":"The Journal of Molecular Diagnostics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jmoldx.2016.07.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2016 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}