{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T13:01:38Z","timestamp":1793278898060,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T00:00:00Z","timestamp":1619827200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"name":"Spanish Ministry of Science, Innovation and Universities\/State Research Agency","award":["RTI2018-094434-B-I00"],"award-info":[{"award-number":["RTI2018-094434-B-I00"]}]},{"name":"Spanish Ministry of Science, Innovation and Universities\/State Research Agency","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}]},{"name":"Spanish Ministry of Science, Innovation and Universities\/State Research Agency","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}]},{"name":"Spanish Ministry of Science, Innovation and Universities\/State Research Agency","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}]},{"name":"Spanish Ministry of Science, Innovation and Universities\/State Research Agency","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}]},{"name":"European JPIAMR-VRI network \u201cCONNECT\u201d"},{"name":"Hesperia Foundation and the Secretariat for Universities, Research of the Ministry of Business and Knowledge of the Government of Catalonia"},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2021,5]]},"DOI":"10.1038\/s41436-020-01075-9","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T00:53:13Z","timestamp":1613782393000},"page":"888-899","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":60,"title":["DLG4-related synaptopathy: a new rare brain disorder"],"prefix":"10.1016","volume":"23","author":[{"given":"Agust\u00ed","family":"Rodr\u00edguez-Palmero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa Maria","family":"Boerrigter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"G\u00f3mez-Andr\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly A.","family":"Aldinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00cd\u00f1igo","family":"Marcos-Alcalde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernt","family":"Popp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Everman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alysia Kern","family":"Lovgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Arpin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahid","family":"Bahrambeigi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gea","family":"Beunders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Bisgaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.A.","family":"Bjerregaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ange-Line","family":"Bruel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas D.","family":"Challman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Coubes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella A.","family":"de Man","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Denomm\u00e9-Pichon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas J.","family":"Dye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Elmslie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Feuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sixto","family":"Garc\u00eda-Mi\u00f1a\u00far","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Gertler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Giorgio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Gruchy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad R.","family":"Haldeman-Englert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bj\u00f8rn Ivar","family":"Haukanes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Hoyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna C.E.","family":"Hurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Johansson","family":"Soller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulagna","family":"Kushary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malin","family":"Kvarnung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval E.","family":"Landau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen A.","family":"Leppig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lotte","family":"Kleinendorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"MacKenzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Mandrile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryce A.","family":"Mendelsohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Setareh","family":"Moghadasi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny E.","family":"Morton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastien","family":"Moutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelie J.","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"O\u2019Leary","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Pacio-M\u00edguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Palomares-Bralo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumit","family":"Parikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Pode-Shakked","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Repnikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Revah-Politi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meredith J.","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia A.L.","family":"Ruivenkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Sarrazin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliann M.","family":"Savatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agatha","family":"Schl\u00fcter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bitten","family":"Sch\u00f6newolf-Greulich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohra","family":"Shad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Shaw-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph T.","family":"Shieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motti","family":"Shohat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Thiese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic Tran","family":"Mau-Them","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bregje","family":"van Bon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ineke","family":"van de Burgt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.B.H.","family":"van de Laar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esm\u00e9e","family":"van Drie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Conny M.","family":"van Ravenswaaij-Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edgard","family":"Verdura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Waldm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Whiting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos E.","family":"Prada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert B.A.","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William B.","family":"Dobyns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone F.","family":"Reiter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulino","family":"G\u00f3mez-Puertas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Pujol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4777-5802","authenticated-orcid":false,"given":"Zeynep","family":"T\u00fcmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/s41436-020-01075-9_bb0010","author":"Sheng"},{"key":"10.1038\/s41436-020-01075-9_bb0015","author":"Nithianantharajah"},{"key":"10.1038\/s41436-020-01075-9_bb0020","author":"Philips"},{"key":"10.1038\/s41436-020-01075-9_bb0025","author":"Tarpey"},{"key":"10.1038\/s41436-020-01075-9_bb0030","author":"Guo"},{"key":"10.1038\/s41436-020-01075-9_bb0035","author":"Xu"},{"key":"10.1038\/s41436-020-01075-9_bb0040","author":"Kirov"},{"key":"10.1038\/s41436-020-01075-9_bb0045","author":"Feyder"},{"key":"10.1038\/s41436-020-01075-9_bb0050","author":"Coley"},{"key":"10.1038\/s41436-020-01075-9_bb0055","author":"Winkler"},{"key":"10.1038\/s41436-020-01075-9_bb0060","author":"Rauch"},{"key":"10.1038\/s41436-020-01075-9_bb0065","author":"Lelieveld"},{"key":"10.1038\/s41436-020-01075-9_bb0070","author":"Fitzgerald"},{"key":"10.1038\/s41436-020-01075-9_bb0075","author":"Bosch"},{"key":"10.1038\/s41436-020-01075-9_bb0080","author":"Xing"},{"key":"10.1038\/s41436-020-01075-9_bb0085","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1111\/cge.13243","article-title":"Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features","volume":"93","author":"Moutton","year":"2018","journal-title":"Clin. Genet"},{"key":"10.1038\/s41436-020-01075-9_bb0090","author":"Baker"},{"key":"10.1038\/s41436-020-01075-9_bb0095","author":"Sobreira"},{"key":"10.1038\/s41436-020-01075-9_bb0100","author":"Firth"},{"key":"10.1038\/s41436-020-01075-9_bb0105","author":"Richards"},{"key":"10.1038\/s41436-020-01075-9_bb0110","author":"Amendola"},{"key":"10.1038\/s41436-020-01075-9_bb0115","author":"Coban-Akdemir"},{"key":"10.1038\/s41436-020-01075-9_bb0120","author":"Jaganathan"},{"key":"10.1038\/s41436-020-01075-9_bb0125","author":"McGee"},{"key":"10.1038\/s41436-020-01075-9_bb0130","author":"Fomina"},{"key":"10.1038\/s41436-020-01075-9_bb0135","author":"Benkert"},{"key":"10.1038\/s41436-020-01075-9_bb0140","author":"Krab"},{"key":"10.1038\/s41436-020-01075-9_bb0145","author":"Hornbeck"},{"key":"10.1038\/s41436-020-01075-9_bb0150","author":"Grant"},{"key":"10.1038\/s41436-020-01075-9_bb0155","author":"Trist\u00e1n-Noguero"},{"key":"10.1038\/s41436-020-01075-9_bb0160","author":"Zapata"},{"key":"10.1038\/s41436-020-01075-9_bb0165","author":"Ung"},{"key":"10.1038\/s41436-020-01075-9_bb0170","author":"Abela"},{"key":"10.1038\/s41436-020-01075-9_bb0175","author":"Jang"},{"key":"10.1038\/s41436-020-01075-9_bb0180","author":"Morigaki"},{"key":"10.1038\/s41436-020-01075-9_bb0185","author":"Gamss"},{"key":"10.1038\/s41436-020-01075-9_bb0190","author":"Chan"},{"key":"10.1038\/s41436-020-01075-9_bb0195","author":"Krishnan"},{"key":"10.1038\/s41436-020-01075-9_bb0200","author":"Ohnuma"},{"key":"10.1038\/s41436-020-01075-9_bb0205","author":"Kaplanis"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41436-020-01075-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-020-01075-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021014465?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021014465?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-020-01075-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:53:49Z","timestamp":1761098029000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021014465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":40,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,5]]}},"alternative-id":["S1098360021014465"],"URL":"https:\/\/doi.org\/10.1038\/s41436-020-01075-9","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2021,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"DLG4-related synaptopathy: a new rare brain disorder","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/s41436-020-01075-9","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}