{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T19:19:54Z","timestamp":1783192794918,"version":"3.54.6"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,2,25]],"date-time":"2025-02-25T00:00:00Z","timestamp":1740441600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Although substantial advancements have been made in genetic testing, several barriers continue to limit patient access, leading to delays in diagnosis, effective treatments, and preventative measures. The NEUROMYODredger\u20103billion Megaproject End the Diagnostic Odyssey grant offered free whole exome sequencing (WES) to 245 patients with undiagnosed neurodevelopmental or neuromuscular disorders in seven countries: Algeria, Chile, Egypt, France, Mexico, Peru, and Romania. We found pathogenic variants in 79 patients (diagnostic yield 32.24%)\u201436 neurodevelopmental (43.90%) and 43 neuromuscular (26.38%). Fifty patients harboured variants of uncertain significance (VUS, 20.40%)\u201414 neurodevelopmental (17.07%) and 36 neuromuscular (22.08%), and 116 patients had negative results (47.34%). NEUROMYODredger helped end the diagnostic odyssey in around 30% of patients, while ongoing functional studies and reanalysis strategies are used in order to reach more diagnoses. In conclusion, a singleton WES approach is valuable in determining the genetic diagnosis of neurodevelopmental and neuromuscular diseases, especially in low and middle\u2010income countries.<\/jats:p>","DOI":"10.1111\/cge.14736","type":"journal-article","created":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T05:04:50Z","timestamp":1740546290000},"page":"318-322","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>NEUROMYODredger<\/scp>\n                    : Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries"],"prefix":"10.1111","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7871-8600","authenticated-orcid":false,"given":"Edoardo","family":"Malfatti","sequence":"first","affiliation":[{"name":"Reference Center for Neuromuscular Disorders APHP Henri Mondor University Hospital  France"},{"name":"University Paris Est Cr\u00e9teil, Inserm, U955, IMRB  Cr\u00e9teil France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandru","family":"Caramizaru","sequence":"additional","affiliation":[{"name":"Regional Center for Medical Genetics Dolj  Craiova Romania"},{"name":"Department of Medical Genetics University of Medicine and Pharmacy of Craiova  Craiova Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hane","family":"Lee","sequence":"additional","affiliation":[{"name":"3billion Inc.  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