{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:54Z","timestamp":1753869714537,"version":"3.41.2"},"reference-count":5,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T00:00:00Z","timestamp":1633564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004895","name":"European Social Fund","doi-asserted-by":"publisher","award":["B32_17R \/ B32_20R"],"award-info":[{"award-number":["B32_17R \/ B32_20R"]}],"id":[{"id":"10.13039\/501100004895","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI19\/01860"],"award-info":[{"award-number":["PI19\/01860"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1002\/mgg3.1826","type":"journal-article","created":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T06:09:33Z","timestamp":1633759773000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in <i>NIPBL<\/i> and <i>ANKRD11<\/i>"],"prefix":"10.1002","volume":"9","author":[{"given":"Ana","family":"Latorre\u2010Pellicer","sequence":"first","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ngela","family":"Ascaso","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Lucia\u2010Campos","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Gil\u2010Salvador","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Arnedo","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebeca","family":"Anto\u00f1anzas","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariadna","family":"Ayerza\u2010Casas","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"},{"name":"Unit of Paediatric Cardiology Service of Paediatrics Hospital Universitario Miguel Servet Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I\u00f1igo","family":"Marcos\u2010Alcalde","sequence":"additional","affiliation":[{"name":"Molecular Modeling Group Centro de Biolog\u00eda Molecular Severo Ochoa CBMSO (CSIC\u2010UAM) Madrid Spain"},{"name":"Biosciences Research Institute School of Experimental Sciences Universidad Francisco de Vitoria Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulino","family":"G\u00f3mez\u2010Puertas","sequence":"additional","affiliation":[{"name":"Biosciences Research Institute School of Experimental Sciences Universidad Francisco de Vitoria Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feliciano J.","family":"Ramos","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics Service of Paediatrics Hospital Cl\u00ednico Universitario Lozano Blesa Department of Paediatrics School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Pi\u00e9","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0170-7326","authenticated-orcid":false,"given":"Beatriz","family":"Puisac","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics and Functional Genomics Department of Pharmacology\u2010Physiology School of Medicine Universidad de Zaragoza Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,10,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0478-1"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-018-0031-0"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21031042"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13977"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1826","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1826","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1826","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T09:27:52Z","timestamp":1693214872000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1826"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,7]]},"references-count":5,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["10.1002\/mgg3.1826"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1826","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,10,7]]},"assertion":[{"value":"2021-08-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-09-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-10-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1826"}}