{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:11:34Z","timestamp":1790629894308,"version":"4.1.0"},"reference-count":10,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Thorax"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    The diagnosis of primary ciliary dyskinesia (PCD) can be challenging in patients with mutations in the\n                    <jats:italic>HYDIN<\/jats:italic>\n                    gene, despite using electron microscopy tomography and ciliary motion analysis. Also, mutational analysis is hindered by a paralogous copy of the gene. Because there is a subtle reduction in bending capacity, occasionally a rotatory movement, but normal beat frequencies, we assessed if the combination of these changes could be diagnostic of PCD with\n                    <jats:italic>HYDIN<\/jats:italic>\n                    gene mutations. We developed a practical predictive tool using artificial intelligence which can be used to select patients who should be evaluated in detail for\n                    <jats:italic>HYDIN<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1136\/thorax-2025-223584","type":"journal-article","created":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T08:15:23Z","timestamp":1760084123000},"page":"85-87","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Towards a practical tool to identify\n                    <i>HYDIN<\/i>\n                    genotype using high-speed videomicroscopy"],"prefix":"10.1136","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8266-1923","authenticated-orcid":false,"given":"Massimo","family":"Pifferi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pisa University Hospital, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attilio","family":"Boner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Verona, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Maj","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pisa University Hospital, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Cudazzo","sequence":"additional","affiliation":[{"name":"Department of Information Engineering, University of Pisa, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Michelucci","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, Pisa University Hospital, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Donzelli","sequence":"additional","affiliation":[{"name":"Institute of Clinical Physiology National Research Council, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Di Cicco","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pisa University Hospital, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Valetto","sequence":"additional","affiliation":[{"name":"Laboratory of Cytogenetics, Pisa University Hospital, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Peroni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pisa University Hospital, Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6756-9822","authenticated-orcid":false,"given":"Andrew","family":"Bush","sequence":"additional","affiliation":[{"name":"Imperial College London, London, UK"},{"name":"Brompton Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,10,9]]},"reference":[{"key":"2025121510050999000_81.1.85.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.lpm.2023.104171"},{"key":"2025121510050999000_81.1.85.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.016"},{"key":"2025121510050999000_81.1.85.3","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201812-2256LE"},{"key":"2025121510050999000_81.1.85.4","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-024-01599-7"},{"key":"2025121510050999000_81.1.85.5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025121510050999000_81.1.85.6","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/ppul.26842","article-title":"The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis","volume":"59","author":"Pifferi","year":"2024","journal-title":"Pediatr Pulmonol"},{"key":"2025121510050999000_81.1.85.7","doi-asserted-by":"publisher","DOI":"10.1109\/TNN.2005.845141"},{"key":"2025121510050999000_81.1.85.8","unstructured":"Tan PN , Steinbach M , Kumar V . Introduction to data mining, New internat. Pearson, 2014."},{"key":"2025121510050999000_81.1.85.9","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1109\/21.97458","article-title":"A survey of decision tree classifier methodology","volume":"21","author":"Safavian","year":"1991","journal-title":"IEEE Trans Syst, Man, Cybern"},{"key":"2025121510050999000_81.1.85.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2024-110400"}],"container-title":["Thorax"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/thorax-2025-223584","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T18:05:27Z","timestamp":1765821927000},"score":1,"resource":{"primary":{"URL":"https:\/\/thorax.bmj.com\/lookup\/doi\/10.1136\/thorax-2025-223584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,9]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12,15]]},"published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1136\/thorax-2025-223584"],"URL":"https:\/\/doi.org\/10.1136\/thorax-2025-223584","relation":{},"ISSN":["0040-6376","1468-3296"],"issn-type":[{"value":"0040-6376","type":"print"},{"value":"1468-3296","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,9]]}}}