{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T12:09:06Z","timestamp":1784290146947,"version":"3.55.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Copy number variants (CNV) are a major cause of neurodevelopmental disorders. Novel CNV syndromes may still be unrecognized. We report a 9q34.11 microduplication syndrome characterized by neurodevelopmental impairment and recurrent facial anomalies. Following the identification of a\n                    <jats:italic>de novo<\/jats:italic>\n                    9q34.11 microduplication involving the\n                    <jats:italic>SET<\/jats:italic>\n                    and\n                    <jats:italic>SPTAN1<\/jats:italic>\n                    genes in an 11\u2010year\u2010old girl with speech delay, intellectual disability, and behavioral abnormalities, we identified 13 additional patients with overlapping duplications. Besides the neurodevelopmental disorder, clinical features observed among affected individuals included recurrent dysmorphic features, such as midface hypoplasia and thin lips. The minimal region of overlap among these cases contained the\n                    <jats:italic>SET<\/jats:italic>\n                    gene, suggesting that its triplosensitivity may play a role in the observed phenotypes.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64303","type":"journal-article","created":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T07:41:33Z","timestamp":1763710893000},"page":"706-717","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["9q34.11 Microduplications Encompassing\n                    <i>SET<\/i>\n                    Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms"],"prefix":"10.1002","volume":"200","author":[{"given":"Alessandro","family":"De Falco","sequence":"first","affiliation":[{"name":"Department of Translational Medical Sciences University of Naples Federico II  Naples Italy"},{"name":"Genomics and Experimental Medicine Program Scuola Superiore Meridionale (SSM, School of Advanced Studies)  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1010-5618","authenticated-orcid":false,"given":"Marie","family":"Vincent","sequence":"additional","affiliation":[{"name":"Service de g\u00e9n\u00e9tique CHU Nantes  Nantes France"},{"name":"Nantes Universit\u00e9, CNRS, INSERM, L'institut du Thorax  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00eblle","family":"Vieville","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, G\u00e9nomique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU Grenoble Alpes, Universit\u00e9 Grenoble\u2010Alpes  La Tronche France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolaine","family":"Gauthier","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, G\u00e9nomique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU Grenoble Alpes, Universit\u00e9 Grenoble\u2010Alpes  La Tronche France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Dieterich","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, G\u00e9nomique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU Grenoble Alpes, Universit\u00e9 Grenoble\u2010Alpes  La Tronche France"},{"name":"Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Coutton","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, G\u00e9nomique et Procr\u00e9ation H\u00f4pital Couple\u2010Enfant, CHU Grenoble Alpes, Universit\u00e9 Grenoble\u2010Alpes  La Tronche France"},{"name":"Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8837-3519","authenticated-orcid":false,"given":"Sara","family":"Loddo","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9037-4297","authenticated-orcid":false,"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"},{"name":"UniCamillus \u2010 Saint Camillus International University of Health Sciences  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Academic Department of Pediatrics Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Academic Department of Pediatrics Bambino Ges\u00f9 Children's Hospital, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvana","family":"Briuglia","sequence":"additional","affiliation":[{"name":"Department of Biomedical, Dental, Morphological and Functional Imaging Sciences University of Messina  Messina Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[{"name":"Cytogenetics Unit Casa Sollievo Della Sofferenza Foundation, IRCCS, San Giovanni Rotondo  Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Fontana","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit A.O.R.N. San Pio  Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnieszka","family":"Madej\u2010Pilarczyk","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlena","family":"M\u0142ynek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute  Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigia","family":"De Falco","sequence":"additional","affiliation":[{"name":"AMES, Centro Polidiagnostico Strumentale SRL  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Acquaviva","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of General and Emergency Paediatrics AORN Santobono\u2010Pausilipon  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"De Brasi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of General and Emergency Paediatrics AORN Santobono\u2010Pausilipon  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, \u00e9quipe GAD, FHU TRANSLAD  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, F\u00e9d\u00e9ration Hospitalo\u2010Universitaire TRANSLAD et Institut GIMI Dijon Bourgogne University Hospital  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Dauver","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, \u00e9quipe GAD, FHU TRANSLAD  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, F\u00e9d\u00e9ration Hospitalo\u2010Universitaire TRANSLAD et Institut GIMI Dijon Bourgogne University Hospital  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouf","family":"Alnuaimi","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, \u00e9quipe GAD, FHU TRANSLAD  Dijon France"},{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs, F\u00e9d\u00e9ration Hospitalo\u2010Universitaire TRANSLAD et Institut GIMI Dijon Bourgogne University Hospital  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Callier","sequence":"additional","affiliation":[{"name":"Laboratoire de Cytog\u00e9n\u00e9tique CHU Dijon  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Trevisan","sequence":"additional","affiliation":[{"name":"Genomic Medicine Section, Department of Life Sciences and Public Health Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"},{"name":"Center for Rare Diseases, Department of Human and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"},{"name":"Medical Genetics Unit Fondazione Policlinico Universitario A. Gemelli\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Department of Human and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"},{"name":"Pediatric Unit IRCCS Fondazione Policlinico Universitario Agostino Gemelli  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Pediatric Unit IRCCS Fondazione Policlinico Universitario Agostino Gemelli  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases, Department of Human and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"},{"name":"Medical Genetics Unit Fondazione Policlinico Universitario A. Gemelli\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[{"name":"Genomic Medicine Section, Department of Life Sciences and Public Health Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffroy","family":"Delplancq","sequence":"additional","affiliation":[{"name":"Constitutional Genetics Unit Versailles Hospital  Le Chesnay France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Perrin","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit Robert Debr\u00e9 Hospital; APHP  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"White","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Service Murdoch Children's Research Institute  Melbourne Australia"},{"name":"Department of Paediatrics University of Melbourne, Murdoch Children's Research Institute  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Department of Neuroscience and Medical Genetics Meyer Children's Hospital IRCCS  Florence Italy"},{"name":"Neurofarba Department University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Mei","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Department of Neuroscience and Medical Genetics Meyer Children's Hospital IRCCS  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Sani","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Neuroscience and Medical Genetics Meyer Children's Hospital IRCCS  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilena","family":"Pantaleo","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Neuroscience and Medical Genetics Meyer Children's Hospital IRCCS  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Peron","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Neuroscience and Medical Genetics Meyer Children's Hospital IRCCS  Florence Italy"},{"name":"Department of Experimental and Clinical Biomedical Sciences Mario Serio University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-8819","authenticated-orcid":false,"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Department of Translational Medical Sciences University of Naples Federico II  Naples Italy"},{"name":"Genomics and Experimental Medicine Program Scuola Superiore Meridionale (SSM, School of Advanced Studies)  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,11,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.10.006"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.65"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2022.06.036"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001908"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31847"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-021-03758-y"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-018-0279-0"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-121222-120601"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-022-10389-7"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7600345"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0669-2"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2013.0558"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.03.013"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34160"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.09.013"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.202"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12106"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMsr1406261"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01150-9"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.150"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01733.x"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62681"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST20200466"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23541"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx195"},{"key":"e_1_2_10_30_1","first-page":"704","article-title":"PKN3: A Target in Cancer Metastasis","volume":"21","author":"Temme L.","year":"2022","journal-title":"Nature Reviews Drug Discovery"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaw4912"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35398"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2022.12.002"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64303","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.64303","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.64303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T21:14:43Z","timestamp":1771103683000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,20]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3]]}},"alternative-id":["10.1002\/ajmg.a.64303"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64303","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,20]]},"assertion":[{"value":"2025-07-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-10-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}