{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:45:13Z","timestamp":1790693113391,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,14]],"date-time":"2021-03-14T00:00:00Z","timestamp":1615680000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,3,14]],"date-time":"2021-03-14T00:00:00Z","timestamp":1615680000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2021,5]]},"DOI":"10.1002\/humu.24188","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T19:55:17Z","timestamp":1613850917000},"page":"498-505","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Loss\u2010of\u2010function variants in\n            <i>ARHGEF9<\/i>\n            are associated with an X\u2010linked intellectual disability dominant disorder"],"prefix":"10.1155","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0540-5579","authenticated-orcid":false,"given":"Le\u00efla","family":"Ghesh","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4804-5147","authenticated-orcid":false,"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"},{"name":"l'institut du thorax Universit\u00e9 de Nantes, CNRS, INSERM  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Nizon","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"},{"name":"l'institut du thorax Universit\u00e9 de Nantes, CNRS, INSERM  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Trochu","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00eblle","family":"Landeau\u2010Trottier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Breheret","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Thauvin\u2010Robinet","sequence":"additional","affiliation":[{"name":"FHU TRANSLAD Centre Hospitalier Universitaire Dijon\u2010Bourgogne et Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9  Dijon France"},{"name":"G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Inserm UMR 1231 Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence D\u00e9ficience Intellectuelle de causes rares, H\u00f4pital d'Enfants Centre Hospitalier Universitaire Dijon\u2010Bourgogne  Dijon France"},{"name":"UF Innovation en diagnostic g\u00e9nomique des maladies rares CHU Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0526-465X","authenticated-orcid":false,"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"FHU TRANSLAD Centre Hospitalier Universitaire Dijon\u2010Bourgogne et Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9  Dijon France"},{"name":"G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Inserm UMR 1231 Universit\u00e9 de Bourgogne  Dijon France"},{"name":"UF Innovation en diagnostic g\u00e9nomique des maladies rares CHU Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2814-6303","authenticated-orcid":false,"given":"Paul","family":"Kuentz","sequence":"additional","affiliation":[{"name":"FHU TRANSLAD Centre Hospitalier Universitaire Dijon\u2010Bourgogne et Universit\u00e9 de Bourgogne\u2010Franche Comt\u00e9  Dijon France"},{"name":"G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement, Inserm UMR 1231 Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Coubes","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale, Maladies Rares et M\u00e9decine Personnalis\u00e9e, H\u00f4pital Arnaud de Villeneuve CHU de Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Cuisset","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique et Biologie Mol\u00e9culaires, D\u00e9partement M\u00e9dico\u2010Universitaire BioPhyGen, H\u00f4pital Cochin, APHP Universit\u00e9 de Paris  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM INSERM, U 1127, CNRS UMR 7225, Sorbonne Universit\u00e9s, UPMC Univ Paris 06 UMR S 1127  Paris France"},{"name":"Service de G\u00e9n\u00e9tique clinique et M\u00e9dicale CHU Paris, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique clinique et M\u00e9dicale CHU Paris, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"B\u00e9zieau","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"},{"name":"l'institut du thorax Universit\u00e9 de Nantes, CNRS, INSERM  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5503-6292","authenticated-orcid":false,"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier Universitaire de Nantes  Nantes France"},{"name":"l'institut du thorax Universit\u00e9 de Nantes, CNRS, INSERM  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,14]]},"reference":[{"key":"e_1_2_5_2_1","article-title":"Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation","author":"Aarabi M.","year":"2018","journal-title":"European Journal of Medical Genetics"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000148"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2013.05.033"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2011.05.003"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.05.014"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13102"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2019.00060"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1080\/21541248.2016.1232583"},{"key":"e_1_2_5_10_1","volume-title":"Intellectual disability: Understanding its development, causes, classification, evaluation, and treatment","author":"Harris J. C.","year":"2006"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1184-04.2004"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01905.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20814"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8539-3"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03516.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34004"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_5_18_1","first-page":"83","article-title":"Missense mutation R338W in ARHGEF9 in a family with X\u2010linked intellectual disability with variable macrocephaly and macro\u2010orchidism","volume":"8","author":"Long P.","year":"2015","journal-title":"Frontiers in Molecular Neuroscience"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.69"},{"key":"e_1_2_5_20_1","article-title":"ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal","author":"Marco E. J.","year":"2009","journal-title":"Journal of Medical Genetics"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00428-018-2345-x"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61061"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1501"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2617"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.58"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-017-0528-2"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3466"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24188","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/humu.24188","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/humu.24188","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:55:14Z","timestamp":1672332914000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.24188"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,14]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1002\/humu.24188"],"URL":"https:\/\/doi.org\/10.1002\/humu.24188","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,14]]},"assertion":[{"value":"2020-07-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}