{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:07:51Z","timestamp":1789171671257,"version":"build-2803163510"},"reference-count":23,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T00:00:00Z","timestamp":1785196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82560331"],"award-info":[{"award-number":["82560331"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.ejmg.2026.105097","type":"journal-article","created":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T06:49:35Z","timestamp":1785307775000},"page":"105097","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability"],"prefix":"10.1016","volume":"83","author":[{"given":"Jingjing","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hairui","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengju","family":"Hao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Hui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib1","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-017-15380-y","article-title":"Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability","volume":"7","author":"Bosshard","year":"2017","journal-title":"Sci. Rep."},{"issue":"2","key":"10.1016\/j.ejmg.2026.105097_bib2","first-page":"117","article-title":"Clinical phenotypes and genetic analysis of X-linked intellectual disability caused by HUWE1 gene variants","volume":"38","author":"Cai","year":"2023","journal-title":"Lab. Med."},{"issue":"4","key":"10.1016\/j.ejmg.2026.105097_bib3","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63959","article-title":"Exploring the clinical spectrum of HUWE1-related neurodevelopmental disorder: five new patients and literature review","volume":"197","author":"De Falco","year":"2024","journal-title":"Am. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2026.105097_bib4","first-page":"34","article-title":"Facial and ocular manifestations of male patients affected by the HUWE1-related intellectual developmental disorder","volume":"14","author":"Deshmukh","year":"2023","journal-title":"Int. J. Mol. Epidemiol. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2026.105097_bib5","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2015-009537","article-title":"HUWE1 mutations in Juberg-Marsidi and brooks syndromes: the results of an X-chromosome exome sequencing study","volume":"6","author":"Friez","year":"2016","journal-title":"BMJ Open"},{"issue":"2","key":"10.1016\/j.ejmg.2026.105097_bib6","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ajhg.2007.11.002","article-title":"Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation","volume":"82","author":"Froyen","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib7","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s13064-020-00143-9","article-title":"Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease","volume":"15","author":"Giles","year":"2020","journal-title":"Neural Dev."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib8","doi-asserted-by":"crossref","first-page":"51","DOI":"10.3390\/genes11010051","article-title":"Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability","volume":"11","author":"Ibarluzea","year":"2020","journal-title":"Genes"},{"issue":"7","key":"10.1016\/j.ejmg.2026.105097_bib9","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1016\/j.ejmg.2013.05.005","article-title":"HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability","volume":"56","author":"Isrie","year":"2013","journal-title":"Eur. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib10","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-75499-3","article-title":"Targeting of the E3 ubiquitin-protein ligase HUWE1 impairs DNA repair capacity and tumor growth in preclinical multiple myeloma models","volume":"10","author":"Kunz","year":"2020","journal-title":"Sci. Rep."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib11","article-title":"Turner-type X-linked intellectual disability syndrome with infantile epileptic spasms: a case report","volume":"5","author":"Li","year":"2023","journal-title":"Chin. Clin. Case Repos."},{"issue":"5","key":"10.1016\/j.ejmg.2026.105097_bib12","first-page":"533","article-title":"Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability","volume":"41","author":"Li","year":"2024","journal-title":"Chin. J. Med. Genet."},{"issue":"12","key":"10.1016\/j.ejmg.2026.105097_bib13","first-page":"1309","article-title":"A case of Turner-type X-linked mental retardation syndrome with HUWE1 gene mutation and literature review","volume":"21","author":"Li","year":"2022","journal-title":"Chin. J. Diffic. Compl. Cas."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib14","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1038\/s41431-017-0038-6","article-title":"HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients","volume":"26","author":"Moortgat","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib15","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2019.02.007","article-title":"Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome","volume":"63","author":"Muthusamy","year":"2019","journal-title":"Eur. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2026.105097_bib16","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1002\/ajmg.a.38710","article-title":"X-linked intellectual disability update 2017","volume":"176","author":"Neri","year":"2018","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib17","doi-asserted-by":"crossref","first-page":"8182","DOI":"10.1038\/s41467-025-63442-x","article-title":"Selective ubiquitination of drug-like small molecules by the ubiquitin ligase HUWE1","volume":"16","author":"Orth","year":"2025","journal-title":"Nat. Commun."},{"issue":"6","key":"10.1016\/j.ejmg.2026.105097_bib18","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1111\/jir.12835","article-title":"Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability","volume":"65","author":"Ta\u015fk\u0131ran","year":"2021","journal-title":"J. Intellect. Disabil. Res."},{"issue":"7","key":"10.1016\/j.ejmg.2026.105097_bib19","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/ng.3304","article-title":"Factors influencing success of clinical genome sequencing across a broad spectrum of disorders","volume":"47","author":"Taylor","year":"2015","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2026.105097_bib20","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200169","article-title":"Novel genetic variant in HUWE1: prenatal and postnatal neuroimaging phenotype","volume":"10","author":"Tortora","year":"2024","journal-title":"Neurol. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2026.105097_bib21","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/ajmg.1320510456","article-title":"X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization","volume":"51","author":"Turner","year":"1994","journal-title":"Am. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2026.105097_bib22","article-title":"A case of X-linked intellectual disability caused by HUWE1 gene mutation","volume":"4","author":"Yang","year":"2022","journal-title":"Chin. Clin. Case Repos."},{"issue":"10","key":"10.1016\/j.ejmg.2026.105097_bib23","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/gim.2014.191","article-title":"Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios","volume":"17","author":"Zhu","year":"2015","journal-title":"Genet. Med."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721226000315?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721226000315?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T23:22:06Z","timestamp":1789168926000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721226000315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":23,"alternative-id":["S1769721226000315"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2026.105097","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of novel HUWE1 variants in Turner-type X-linked intellectual disability","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2026.105097","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"105097"}}