{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T21:58:50Z","timestamp":1791842330570,"version":"4.3.4"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,10,21]],"date-time":"2024-10-21T00:00:00Z","timestamp":1729468800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    De novo heterozygous variants in\n                    <jats:italic>RNU4\u20102<\/jats:italic>\n                    , a component of the major spliceosome, were recently found to cause a novel neurodevelopmental disorder. Preliminary evidence suggests that this newly discovered syndrome is one of the most common monogenic causes of neurodevelopmental disorders. It is characterised by developmental delay and intellectual disability, microcephaly, short stature and hypotonia. However, much remains to be elucidated regarding the phenotype of the affected individuals. We report on four novel individuals affected by the condition, two of which were identified following targeted sequencing based solely on the facial features that were similar to those of the first patient we identified. This strongly suggests that this syndrome entails a recognisable morphological phenotype, which is particularly relevant for resource\u2010limited regions where whole genome sequencing is not readily available, and in view of retro\u2010active selection\/prioritisation of individuals with hitherto negative genetic testing.\n                  <\/jats:p>","DOI":"10.1111\/cge.14628","type":"journal-article","created":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T02:28:52Z","timestamp":1729564132000},"page":"104-112","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<scp>RNU4\u20102<\/scp>\n                    \u2010Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt"],"prefix":"10.1111","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5762-5260","authenticated-orcid":false,"given":"Jessica","family":"Rosenblum","sequence":"first","affiliation":[{"name":"Center of Medical Genetics Antwerp University Hospital\/University of Antwerp  Antwerp Belgium"},{"name":"Translational Neurosciences University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Beysen","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna C.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Translational Neurosciences University of Antwerp  Antwerp Belgium"},{"name":"Department of Paediatric Neurology Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan","family":"De Rademaeker","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics Antwerp University Hospital\/University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Reyniers","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics Antwerp University Hospital\/University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrien","family":"Janssens","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics Antwerp University Hospital\/University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marije","family":"Meuwissen","sequence":"additional","affiliation":[{"name":"Center of Medical Genetics Antwerp University Hospital\/University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2209046"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010022\u201001185\u20109"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14722"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002213\u2010z"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011655"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms232112977"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591\u2010024\u201003085\u20105"},{"key":"e_1_2_10_9_1","doi-asserted-by":"crossref","unstructured":"Y.Chen R.Dawes H. C.Kim et\u00a0al. \u201cDe Novo Variants in the Non\u2010coding Spliceosomal snRNA Gene RNU4\u20102 Are a Frequent Cause of Syndromic Neurodevelopmental Disorders \u201d medRxiv 2024 https:\/\/doi.org\/10.1101\/2024.04.07.24305438.","DOI":"10.1101\/2024.04.07.24305438"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14574"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aax3289"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14628","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T21:55:40Z","timestamp":1734040540000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14628"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,21]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1111\/cge.14628"],"URL":"https:\/\/doi.org\/10.1111\/cge.14628","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14628\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14628\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14628\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14628\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14628\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14628\/v2\/decision1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,21]]},"assertion":[{"value":"2024-07-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}