{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T07:12:19Z","timestamp":1787987539508,"version":"build-2784847793"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T00:00:00Z","timestamp":1780617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T00:00:00Z","timestamp":1780617600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U01HG009599"],"award-info":[{"award-number":["U01HG009599"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Pseudouridylation is a frequent post\u2010transcriptional modification resulting in uridine isomerization in 5\u2010ribosyluracil, also called pseudouridine. This mechanism leads to RNA stability with an increase in base\u2010stacking and the creation of hydrogen bonds. Recently, papers reported that variants in\n                    <jats:italic>PUS7<\/jats:italic>\n                    in 16 patients were involved in marked growth retardation with microcephaly, associated with intellectual disability and behavioral issues such as self\u2010injurious and aggressive behavior. Through\n                    <jats:italic>Genematcher<\/jats:italic>\n                    , we initiated a collaboration to describe a new cohort of\n                    <jats:italic>PUS7<\/jats:italic>\n                    patients. In total, we report 13 new cases carrying 15 new variants. This cohort further expands the phenotypic spectrum associated with\n                    <jats:italic>PUS7<\/jats:italic>\n                    \u2010related syndromes, allowing for improved genotype\u2013phenotype correlations and ultimately better healthcare for affected individuals and their families.\n                  <\/jats:p>","DOI":"10.1111\/cge.70192","type":"journal-article","created":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T04:09:04Z","timestamp":1780718944000},"page":"379-388","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Variants in\n                    <scp>\n                      <i>PUS7<\/i>\n                    <\/scp>\n                    Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7773-3689","authenticated-orcid":false,"given":"Camille","family":"Berg\u00e8s","sequence":"first","affiliation":[{"name":"Service de g\u00e9n\u00e9tique m\u00e9dicale, CHU Bordeaux, MRGM\u2010U1211, INSERM\/Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-5645-5560","authenticated-orcid":false,"given":"Cl\u00e9ment","family":"Sauvestre","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique m\u00e9dicale, CHU Bordeaux, MRGM\u2010U1211, INSERM\/Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Naudion","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique m\u00e9dicale, CHU Bordeaux, MRGM\u2010U1211, INSERM\/Universit\u00e9 de Bordeaux  Bordeaux 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