{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T16:11:22Z","timestamp":1791648682741,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T00:00:00Z","timestamp":1757548800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG007709"],"award-info":[{"award-number":["U01HG007709"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01HG007942"],"award-info":[{"award-number":["U01HG007942"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["P50 HD103555"],"award-info":[{"award-number":["P50 HD103555"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007857","name":"Intellectual and Developmental Disabilities Research Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007857","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Despite significant knowledge advances in recent decades, the role of most protein\u2010coding genes in human disease remains incompletely understood. Exome sequencing continues to improve our understanding by elucidating novel genotype\u2013phenotype associations. Across multiple healthcare centers, either exome or genome sequencing was performed in 18 patients with shared features of global developmental delay, hypotonia, and dysmorphisms. De novo, truncating variants in\n                    <jats:italic>ZNF865<\/jats:italic>\n                    were identified in all 18 patients, with all but one clustered toward the C\u2010terminus. Four variants were seen more than once in unrelated patients. No disease\u2010causing variants were identified in other genes that would explain the patients' phenotypes. Little is known of the function of ZNF865, which belongs to the poly\u2010zinc finger family of proteins that contain a large array of tandem C2H2 zinc finger DNA binding domains. Our findings suggest that protein\u2010truncating variants in this gene lead to intellectual disability with a recognizable phenotypic pattern.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64242","type":"journal-article","created":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T04:35:07Z","timestamp":1757651707000},"page":"244-252","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["De Novo Truncating Variants in\n                    <scp>\n                      <i>ZNF865<\/i>\n                    <\/scp>\n                    Cause a Novel Neurodevelopmental Disorder"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1957-9227","authenticated-orcid":false,"given":"Samuel M","family":"Bradbrook","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Alberta Children's Hospital  Calgary Alberta 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