{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:49:47Z","timestamp":1790858987456,"version":"4.1.0"},"reference-count":54,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T00:00:00Z","timestamp":1721779200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T00:00:00Z","timestamp":1721779200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Perinatol"],"published-print":{"date-parts":[[2024,11]]},"DOI":"10.1038\/s41372-024-02068-1","type":"journal-article","created":{"date-parts":[[2024,7,24]],"date-time":"2024-07-24T19:06:25Z","timestamp":1721847985000},"page":"1700-1706","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Recognizing clinical features of primary ciliary dyskinesia in the perinatal period"],"prefix":"10.1038","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3945-4216","authenticated-orcid":false,"given":"Lydia","family":"Mapala","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhan","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Canakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Hailu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lianne S.","family":"Kopel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam J.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,7,24]]},"reference":[{"key":"2068_CR1","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","volume":"8","author":"JS Lucas","year":"2020","unstructured":"Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med. 2020;8:202\u201316.","journal-title":"Lancet Respir Med"},{"key":"2068_CR2","doi-asserted-by":"crossref","first-page":"1305","DOI":"10.1513\/AnnalsATS.201511-748OC","volume":"13","author":"MW Leigh","year":"2016","unstructured":"Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, et al. Clinical features and associated likelihood of primary ciliary dyskinesia in children and adolescents. Ann Am Thorac Soc. 2016;13:1305\u201313.","journal-title":"Ann Am Thorac Soc"},{"key":"2068_CR3","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1183\/09031936.00001010","volume":"36","author":"CE Kuehni","year":"2010","unstructured":"Kuehni CE, Frischer T, Strippoli MPF, Maurer E, Bush A, Nielsen KG, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010;36:1248\u201358. https:\/\/erj.ersjournals.com\/content\/36\/6\/1248","journal-title":"Eur Respir J"},{"key":"2068_CR4","doi-asserted-by":"crossref","first-page":"2717","DOI":"10.1002\/ppul.25533","volume":"56","author":"P Asfuroglu","year":"2021","unstructured":"Asfuroglu P, Ramasli Gursoy T, Sismanlar Eyuboglu T, Aslan AT. Evaluation of age at diagnosis and clinical findings of children with primary ciliary dyskinesia. Pediatr Pulmonol. 2021;56:2717\u201323.","journal-title":"Pediatr Pulmonol"},{"key":"2068_CR5","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/ppul.23304","volume":"51","author":"AJ Shapiro","year":"2016","unstructured":"Shapiro AJ, Zariwala MA, Ferkol T, Davis SD, Sagel SD, Dell SD, et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review. Pediatr Pulmonol. 2016;51:115.","journal-title":"Pediatr Pulmonol"},{"key":"2068_CR6","doi-asserted-by":"crossref","first-page":"1601090","DOI":"10.1183\/13993003.01090-2016","volume":"49","author":"JS Lucas","year":"2017","unstructured":"Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49:1601090.","journal-title":"Eur Respir J"},{"key":"2068_CR7","unstructured":"Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, et al. ERS Task Force guideline for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49."},{"key":"2068_CR8","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","volume":"197","author":"AJ Shapiro","year":"2018","unstructured":"Shapiro AJ, Davis SD, Polineni D, Manion M, Rosenfeld M, Dell SD, et al. Diagnosis of primary ciliary dyskinesia: An official American thoracic society clinical practice guideline. Am J Respir Crit Care Med. 2018;197:e24\u201339.","journal-title":"Am J Respir Crit Care Med"},{"key":"2068_CR9","doi-asserted-by":"crossref","first-page":"321","DOI":"10.2350\/13-03-1317-OA.1","volume":"16","author":"T Simoneau","year":"2013","unstructured":"Simoneau T, Zandieh SO, Rao DR, Phuong VO, Palm KE, McCown M, et al. Impact of cilia ultrastructural examination on the diagnosis of primary ciliary dyskinesia. Pediatr Dev Pathol. 2013;16:321\u20136.","journal-title":"Pediatr Dev Pathol"},{"key":"2068_CR10","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1080\/01913123.2017.1362088","volume":"41","author":"AJ Shapiro","year":"2017","unstructured":"Shapiro AJ, Leigh MW. The value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: genetic defects with normal and non-diagnostic ciliary ultrastructure. Ultrastruct Pathol. 2017;41:373.","journal-title":"Ultrastruct Pathol"},{"key":"2068_CR11","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/pr.2016.263","volume":"81","author":"P Kouis","year":"2017","unstructured":"Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI. Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. Pediatr Res. 2017;81:398\u2013405. https:\/\/www.nature.com\/articles\/pr2016263","journal-title":"Pediatr Res"},{"key":"2068_CR12","doi-asserted-by":"crossref","unstructured":"Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, de Santi MM, Goggin P, et al. International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). Eur Respir J. 2020 https:\/\/erj.ersjournals.com\/content\/55\/4\/1900725","DOI":"10.1183\/13993003.00725-2019"},{"key":"2068_CR13","first-page":"1184","volume":"14","author":"AJ Shapiro","year":"2017","unstructured":"Shapiro AJ, Josephson M, Rosenfeld M, Yilmaz O, Davis SD, Polineni D, et al. Accuracy of nasal nitric oxide measurement as a diagnostic test for primary ciliary dyskinesia a systematic review and meta-analysis. Ann Am Thorac Soc. 2017;14:1184\u201396.","journal-title":"Ann Am Thorac Soc"},{"key":"2068_CR14","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1513\/AnnalsATS.201305-110OC","volume":"10","author":"MW Leigh","year":"2013","unstructured":"Leigh MW, Hazucha MJ, Chawla KK, Baker BR, Shapiro AJ, Brown DE, et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc. 2013;10:574\u201381.","journal-title":"Ann Am Thorac Soc"},{"key":"2068_CR15","doi-asserted-by":"publisher","first-page":"E1","DOI":"10.1513\/AnnalsATS.201904-347OT","volume":"17","author":"AJ Shapiro","year":"2020","unstructured":"Shapiro AJ, Dell SD, Gaston B, O\u2019Connor M, Marozkina N, Manion M. et al. Nasal nitric oxide measurement in primary ciliary dyskinesia. A technical paper on standardized testing protocols. Ann Am Thorac Soc. 2020;17:E1\u201312. https:\/\/doi.org\/10.1513\/AnnalsATS.201904-347OT.","journal-title":"Ann Am Thorac Soc"},{"key":"2068_CR16","doi-asserted-by":"crossref","first-page":"1275","DOI":"10.1513\/AnnalsATS.202106-728OC","volume":"19","author":"J Raidt","year":"2022","unstructured":"Raidt J, Krenz H, Tebbe J, Gro\u00dfe-Onnebrink J, Olbrich H, Loges NT, et al. Limitations of nasal nitric oxide measurement for diagnosis of primary ciliary dyskinesia with normal ultrastructure. Ann Am Thorac Soc. 2022;19:1275\u201384.","journal-title":"Ann Am Thorac Soc"},{"key":"2068_CR17","doi-asserted-by":"crossref","first-page":"1702503","DOI":"10.1183\/13993003.02503-2017","volume":"51","author":"JK Marthin","year":"2018","unstructured":"Marthin JK, Philipsen MC, Rosthoj S, Nielsen KG. Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection. Eur Respir J. 2018;51:1702503. https:\/\/erj.ersjournals.com\/content\/51\/6\/1702503","journal-title":"Eur Respir J"},{"key":"2068_CR18","unstructured":"Primary Ciliary Dyskinesia - GeneReviews\u00ae - NCBI Bookshelf [Internet]. 2019. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/"},{"key":"2068_CR19","unstructured":"Zariwala MA, Knowles MR, Leigh MW. Primary ciliary dyskinesia. 2019. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/"},{"key":"2068_CR20","doi-asserted-by":"crossref","first-page":"1775","DOI":"10.1534\/g3.115.019851","volume":"5","author":"CR Marshall","year":"2015","unstructured":"Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, et al. Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia. G3 Genes Genomes Genet. 2015;5:1775\u201381.","journal-title":"G3 Genes Genomes Genet"},{"key":"2068_CR21","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1002\/humu.22371","volume":"34","author":"MLA Daniels","year":"2013","unstructured":"Daniels MLA, Leigh MW, Davis SD, Armstrong MC, Carson JL, Hazucha M, et al. Founder mutation in RSPH4A identified in patients of hispanic descent with primary ciliary dyskinesia. Hum Mutat. 2013;34:1352.","journal-title":"Hum Mutat"},{"key":"2068_CR22","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/mgg3.124","volume":"3","author":"AM Fedick","year":"2015","unstructured":"Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genom Med. 2015;3:137.","journal-title":"Mol Genet Genom Med"},{"key":"2068_CR23","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1136\/adc.2009.158493","volume":"95","author":"C O\u2019Callaghan","year":"2010","unstructured":"O\u2019Callaghan C, Chetcuti P, Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child. 2010;95:51\u20132. https:\/\/adc.bmj.com\/content\/95\/1\/51","journal-title":"Arch Dis Child"},{"key":"2068_CR24","doi-asserted-by":"crossref","unstructured":"Ferkol TW, Puffenberger EG, Lie H, Helms C, Strauss KA, Bowcock A, et al. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. J Pediatr. 2013;163:383\u201387.","DOI":"10.1016\/j.jpeds.2013.01.061"},{"key":"2068_CR25","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1038\/ejhg.2014.79","volume":"23","author":"JP Casey","year":"2015","unstructured":"Casey JP, McGettigan PA, Healy F, Hogg C, Reynolds A, Kennedy BN, et al. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet. 2015;23:210.","journal-title":"Eur J Hum Genet"},{"key":"2068_CR26","doi-asserted-by":"crossref","unstructured":"Poplawska K, Griffiths A, Temme R, Adamko DJ, Nykamp K, Shapiro AJ. Deletions in DNAL1 cause primary ciliary dyskinesia across North American indigenous populations. J Pediatr. 2023;261. http:\/\/www.jpeds.com\/article\/S002234762300121X\/fulltext","DOI":"10.1016\/j.jpeds.2023.01.023"},{"key":"2068_CR27","doi-asserted-by":"crossref","first-page":"1942","DOI":"10.1002\/ppul.26414","volume":"58","author":"J Hunter-Schouela","year":"2023","unstructured":"Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, et al. First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol. 2023;58:1942.","journal-title":"Pediatr Pulmonol"},{"key":"2068_CR28","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1164\/rccm.201803-0548OC","volume":"199","author":"SD Davis","year":"2019","unstructured":"Davis SD, Rosenfeld M, Lee HS, Ferkol TW, Sagel SD, Dell SD, et al. Primary ciliary dyskinesia: longitudinal study of lung disease by ultrastructure defect and genotype. Am J Respir Crit Care Med. 2019;199:190\u20138.","journal-title":"Am J Respir Crit Care Med"},{"key":"2068_CR29","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1164\/rccm.201409-1672OC","volume":"191","author":"SD Davis","year":"2015","unstructured":"Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. Am J Respir Crit Care Med. 2015;191:316\u201324.","journal-title":"Am J Respir Crit Care Med"},{"key":"2068_CR30","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1513\/AnnalsATS.202206-524OC","volume":"20","author":"BA Kinghorn","year":"2023","unstructured":"Kinghorn BA, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, et al. Airway disease in children with primary ciliary dyskinesia: impact of ciliary ultrastructure defect and genotype. Ann Am Thorac Soc. 2023;20:539\u201347.","journal-title":"Ann Am Thorac Soc"},{"key":"2068_CR31","doi-asserted-by":"crossref","first-page":"153","DOI":"10.3390\/children8020153","volume":"8","author":"E Machogu","year":"2021","unstructured":"Machogu E, Gaston B. Respiratory distress in the newborn with primary ciliary dyskinesia. Child. 2021;8:153.","journal-title":"Child"},{"key":"2068_CR32","doi-asserted-by":"crossref","unstructured":"Abou Alaiwa M, Hilkin B, Jain A, Philibert WJ, Price M, Rector M, et al. Disruption of the DNAI1 gene in pigs produces a model of primary ciliary dyskinesia. American Thoracic Society International Conference Meetings Abstracts. 2024;A7263\u2013A7263. www.atsjournals.org","DOI":"10.1164\/ajrccm-conference.2024.209.1_MeetingAbstracts.A7263"},{"key":"2068_CR33","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1542\/peds.2014-0808","volume":"134","author":"T Mullowney","year":"2014","unstructured":"Mullowney T, Manson D, Kim R, Stephens D, Shah V, Dell S. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics. 2014;134:1160\u20136.","journal-title":"Pediatrics"},{"key":"2068_CR34","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1513\/AnnalsATS.202202-116OC","volume":"19","author":"WB Wee","year":"2022","unstructured":"Wee WB, Leigh MW, Davis SD, Rosenfeld M, Sullivan KM, Sawras MG, et al. Association of neonatal hospital length of stay with lung function in primary ciliary dyskinesia. Ann Am Thorac Soc. 2022;19:1865\u201370.","journal-title":"Ann Am Thorac Soc"},{"key":"2068_CR35","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1183\/13993003.02359-2020","volume":"58","author":"A Shoemark","year":"2021","unstructured":"Shoemark A, Rubbo B, Legendre M, Fassad MR, Haarman EG, Best S, et al. Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia. Eur Respir J. 2021;58:28. https:\/\/erj.ersjournals.com\/content\/58\/2\/2002359","journal-title":"Eur Respir J"},{"key":"2068_CR36","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1136\/thoraxjnl-2018-212104","volume":"74","author":"S Best","year":"2019","unstructured":"Best S, Shoemark A, Rubbo B, Patel MP, Fassad MR, Dixon M, et al. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. Thorax. 2019;74:203\u20135. https:\/\/thorax.bmj.com\/content\/74\/2\/203","journal-title":"Thorax"},{"key":"2068_CR37","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1002\/ppul.25853","volume":"57","author":"WB Wee","year":"2022","unstructured":"Wee WB, Kaspy KR, Sawras MG, Knowles MR, Zariwala MA, Leigh MW, et al. Going beyond the chest X-ray: Investigating laterality defects in primary ciliary dyskinesia. Pediatr Pulmonol. 2022;57:1318.","journal-title":"Pediatr Pulmonol"},{"key":"2068_CR38","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1378\/chest.13-1704","volume":"146","author":"AJ Shapiro","year":"2014","unstructured":"Shapiro AJ, Davis SD, Ferkol T, Dell SD, Rosenfeld M, Olivier KN, et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. Chest. 2014;146:1176.","journal-title":"Chest"},{"key":"2068_CR39","doi-asserted-by":"publisher","first-page":"2814","DOI":"10.1161\/CIRCULATIONAHA.106.649038","volume":"115","author":"MP Kennedy","year":"2007","unstructured":"Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007;115:2814\u201321. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.106.649038","journal-title":"Circulation"},{"key":"2068_CR40","doi-asserted-by":"crossref","unstructured":"Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, et al. IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. PLoS Genet. 2023;19:e1010796.","DOI":"10.1371\/journal.pgen.1010796"},{"key":"2068_CR41","first-page":"25","volume":"18","author":"MJ Harrison","year":"2016","unstructured":"Harrison MJ, Shapiro AJ, Kennedy MP. Congenital heart disease and primary ciliary dyskinesia. Paediatr Respir Rev. 2016;18:25\u201332.","journal-title":"Paediatr Respir Rev"},{"key":"2068_CR42","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1002\/jnr.23238","volume":"91","author":"L Lee","year":"2013","unstructured":"Lee L. Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia. J Neurosci Res. 2013;91:1117\u201332. https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/jnr.23238","journal-title":"J Neurosci Res"},{"key":"2068_CR43","doi-asserted-by":"publisher","unstructured":"Horani A, Gupta DK, Xu J, Xu H, Puga-Molina L del C, Santi CM, et al. The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes. JCI Insight. 2023;8. https:\/\/doi.org\/10.1172\/jci.insight.168836","DOI":"10.1172\/jci.insight.168836"},{"key":"2068_CR44","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1002\/humu.22957","volume":"37","author":"I Amirav","year":"2016","unstructured":"Amirav I, Wallmeier J, Loges NT, Menchen T, Pennekamp P, Mussaffi H, et al. Systematic analysis of CCNO variants in a defined population: implications for clinical phenotype and differential diagnosis. Hum Mutat. 2016;37:396\u2013405. https:\/\/onlinelibrary-wiley-com.proxy3.library.mcgill.ca\/doi\/full\/10.1002\/humu.22957","journal-title":"Hum Mutat"},{"key":"2068_CR45","doi-asserted-by":"publisher","unstructured":"Robson EA, Dixon L, Causon L, Dawes W, Benenati M, Fassad M, et al. Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation. Neurol Genet. 2020;6. https:\/\/doi.org\/10.1212\/NXG.0000000000000482","DOI":"10.1212\/NXG.0000000000000482"},{"key":"2068_CR46","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1016\/j.ajhg.2019.09.022","volume":"105","author":"J Wallmeier","year":"2019","unstructured":"Wallmeier J, Frank D, Shoemark A, N\u00f6the-Menchen T, Cindric S, Olbrich H, et al. De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left\/right body asymmetry. Am J Hum Genet. 2019;105:1030.","journal-title":"Am J Hum Genet"},{"key":"2068_CR47","doi-asserted-by":"crossref","first-page":"1726","DOI":"10.1002\/mgg3.1726","volume":"9","author":"AJ Shapiro","year":"2021","unstructured":"Shapiro AJ, Kaspy K, Daniels MLA, Stonebraker JR, Nguyen VH, Joyal L, et al. Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus. Mol Genet Genom Med. 2021;9:1726.","journal-title":"Mol Genet Genom Med"},{"key":"2068_CR48","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/pd.551","volume":"23","author":"MW Wessels","year":"2003","unstructured":"Wessels MW, Den Hollander NS, Willems PJ. Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. Prenat Diagn. 2003;23:239\u201342. https:\/\/onlinelibrary-wiley-com.proxy3.library.mcgill.ca\/doi\/full\/10.1002\/pd.551","journal-title":"Prenat Diagn"},{"key":"2068_CR49","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1055\/s-0039-1678531","volume":"36","author":"SS Pereira","year":"2019","unstructured":"Pereira SS, Raja EA, Satas S. Weight-based guide overestimates endotracheal tube tip position in extremely preterm infants. Am J Perinatol. 2019;36:1498\u2013503. http:\/\/www.thieme-connect.com\/products\/ejournals\/html\/10.1055\/s-0039-1678531","journal-title":"Am J Perinatol"},{"key":"2068_CR50","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1590\/0100-3984.2016.0157","volume":"51","author":"MC Dominguez","year":"2018","unstructured":"Dominguez MC, Alvares BR. Pulmonary atelectasis in newborns with clinically treatable diseases who are on mechanical ventilation: clinical and radiological aspects. Radio Bras. 2018;51:20.","journal-title":"Radio Bras"},{"key":"2068_CR51","first-page":"83","volume":"12","author":"\u0141M Czarnecki","year":"2015","unstructured":"Czarnecki \u0141M. Assessment of chest X-ray images in newborns with respiratory disorders. Kardiochir Torakochirurgia Pol. 2015;12:83.","journal-title":"Kardiochir Torakochirurgia Pol"},{"key":"2068_CR52","first-page":"347","volume":"31","author":"AK Santos","year":"2019","unstructured":"Santos AK, Silveira J, Neves VC, Zotz TGG, Motter AA, Andreazza MG. Atelectasis and lung changes in preterm neonates in the neonatal period: a blind radiological report and clinical findings. Rev Bras Ter Intensiv. 2019;31:347.","journal-title":"Rev Bras Ter Intensiv"},{"key":"2068_CR53","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/S0140-6736(06)69077-6","volume":"368","author":"RL Smyth","year":"2006","unstructured":"Smyth RL, Openshaw PJ. Bronchiolitis. Lancet. 2006;368:312\u201322. http:\/\/www.thelancet.com\/article\/S0140673606690776\/fulltext","journal-title":"Lancet"},{"key":"2068_CR54","doi-asserted-by":"crossref","unstructured":"Duy PQ, Greenberg ABW, Butler WE, Kahle KT. Rethinking the cilia hypothesis of hydrocephalus. Neurobiol Dis. 2022;175. https:\/\/pubmed.ncbi.nlm.nih.gov\/36341771\/","DOI":"10.1016\/j.nbd.2022.105913"}],"container-title":["Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41372-024-02068-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41372-024-02068-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41372-024-02068-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T02:03:25Z","timestamp":1730167405000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41372-024-02068-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,24]]},"references-count":54,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["2068"],"URL":"https:\/\/doi.org\/10.1038\/s41372-024-02068-1","relation":{},"ISSN":["0743-8346","1476-5543"],"issn-type":[{"value":"0743-8346","type":"print"},{"value":"1476-5543","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,24]]},"assertion":[{"value":"4 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2024","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 July 2024","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 July 2024","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Dr. Shapiro serves on the advisory boards for Parion Sciences, Ethris GmbH, and ReCode Therapeutics. He is also the Medical Director of the PCD Foundation Clinical and Research Center Network and receives salary support from the PCD Foundation. Support for research was provided to Dr. Shapiro by US NIH\/ORDR\/NACTS\/NHLBI grant U54HL096458. The Genetic Disorders of Mucociliary Clearance Consortium (U54HL096458) is part of the National Center for Advancing Translational Sciences (NCATS) Rare Diseases Clinical Research Network (RDCRN) and supported by the RDCRN Data Management and Coordinating Center (DMCC) (U2CTR002818). RDCRN is an initiative of the Office of Rare Diseases Research (ORDR) funded through a collaboration between NCATS and National Heart, Lung, and Blood Institute (NHLBI). The contents are solely the responsibility of the authors and do not necessarily represent the official views of the National Institute of Health.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This study was approved by the McGill University Health Centre-Montreal Children\u2019s Hospital (MUHC-MCH) Research Ethics Board (Reference number 2023-9523) and was performed in accordance with the Declaration of Helsinki. Informed consent was obtained from all subjects.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}