{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T03:26:25Z","timestamp":1768533985651,"version":"3.49.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T00:00:00Z","timestamp":1642550400000},"content-version":"vor","delay-in-days":871,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1038\/s41436-019-0473-6","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T20:02:26Z","timestamp":1553803346000},"page":"2059-2069","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["De novo and biallelic DEAF1 variants cause a phenotypic spectrum"],"prefix":"10.1016","volume":"21","author":[{"given":"Maria J.","family":"Nabais S\u00e1","sequence":"first","affiliation":[]},{"given":"Philip J.","family":"Jensik","sequence":"additional","affiliation":[]},{"given":"Stacey R.","family":"McGee","sequence":"additional","affiliation":[]},{"given":"Michael J.","family":"Parker","sequence":"additional","affiliation":[]},{"given":"Nayana","family":"Lahiri","sequence":"additional","affiliation":[]},{"given":"Evan P.","family":"McNeil","sequence":"additional","affiliation":[]},{"given":"Hester Y.","family":"Kroes","sequence":"additional","affiliation":[]},{"given":"Randi J.","family":"Hagerman","sequence":"additional","affiliation":[]},{"given":"Rachel E.","family":"Harrison","sequence":"additional","affiliation":[]},{"given":"Tara","family":"Montgomery","sequence":"additional","affiliation":[]},{"given":"Miranda","family":"Splitt","sequence":"additional","affiliation":[]},{"given":"Elizabeth E.","family":"Palmer","sequence":"additional","affiliation":[]},{"given":"Rani K.","family":"Sachdev","sequence":"additional","affiliation":[]},{"given":"Heather C.","family":"Mefford","sequence":"additional","affiliation":[]},{"given":"Abbey A.","family":"Scott","sequence":"additional","affiliation":[]},{"given":"Julian A.","family":"Martinez-Agosto","sequence":"additional","affiliation":[]},{"given":"R\u00fcdiger","family":"Lorenz","sequence":"additional","affiliation":[]},{"given":"Naama","family":"Orenstein","sequence":"additional","affiliation":[]},{"given":"Jonathan N.","family":"Berg","sequence":"additional","affiliation":[]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[]},{"given":"Delphine","family":"Heron","sequence":"additional","affiliation":[]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[]},{"given":"Jan-Maarten","family":"Cobben","sequence":"additional","affiliation":[]},{"given":"Leonie A.","family":"Menke","sequence":"additional","affiliation":[]},{"given":"Elysa J.","family":"Marco","sequence":"additional","affiliation":[]},{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[]},{"given":"Tyler Mark","family":"Pierson","sequence":"additional","affiliation":[]},{"given":"Ehsan Ghayoor","family":"Karimiani","sequence":"additional","affiliation":[]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[]},{"given":"M. Chiara","family":"Manzini","sequence":"additional","affiliation":[]},{"given":"Edmund S.","family":"Cauley","sequence":"additional","affiliation":[]},{"given":"Roberto","family":"Colombo","sequence":"additional","affiliation":[]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[]},{"given":"Christele","family":"Dubourg","sequence":"additional","affiliation":[]},{"given":"Chanika","family":"Phornphutkul","sequence":"additional","affiliation":[]},{"given":"Arjan P.M.","family":"de Brouwer","sequence":"additional","affiliation":[]},{"given":"Bert B.A.","family":"de Vries","sequence":"additional","affiliation":[]},{"given":"Anneke T.","family":"Vulto-vanSilfhout","sequence":"additional","affiliation":[]}],"member":"78","reference":[{"key":"10.1038\/s41436-019-0473-6_bb0010","author":"Vulto-van Silfhout"},{"key":"10.1038\/s41436-019-0473-6_bb0015","author":"Yip"},{"key":"10.1038\/s41436-019-0473-6_bb0020","author":"Barker"},{"key":"10.1038\/s41436-019-0473-6_bb0025","author":"Gross"},{"key":"10.1038\/s41436-019-0473-6_bb0030","author":"Yip"},{"key":"10.1038\/s41436-019-0473-6_bb0035","author":"Bottomley"},{"key":"10.1038\/s41436-019-0473-6_bb0040","author":"Jensik"},{"key":"10.1038\/s41436-019-0473-6_bb0045","author":"Jensik"},{"key":"10.1038\/s41436-019-0473-6_bb0050","author":"Kateb"},{"key":"10.1038\/s41436-019-0473-6_bb0055","author":"Hahm"},{"key":"10.1038\/s41436-019-0473-6_bb0060","author":"Veraksa"},{"key":"10.1038\/s41436-019-0473-6_bb0065","author":"Vissers"},{"key":"10.1038\/s41436-019-0473-6_bb0070","author":"Rauch"},{"key":"10.1038\/s41436-019-0473-6_bb0075","author":"Wenger"},{"key":"10.1038\/s41436-019-0473-6_bb0080","author":"Berger"},{"key":"10.1038\/s41436-019-0473-6_bb0085","author":"Chen"},{"key":"10.1038\/s41436-019-0473-6_bb0090","author":"Li"},{"key":"10.1038\/s41436-019-0473-6_bb0095","author":"Faqeih"},{"key":"10.1038\/s41436-019-0473-6_bb0100","author":"Rajab"},{"key":"10.1038\/s41436-019-0473-6_bb0105","author":"Gund"},{"key":"10.1038\/s41436-019-0473-6_bb0110","author":"Iafrate"},{"key":"10.1038\/s41436-019-0473-6_bb0115","author":"Grimberg"},{"key":"10.1038\/s41436-019-0473-6_bb0120","author":"de Ligt"},{"key":"10.1038\/s41436-019-0473-6_bb0125","author":"Krumm"},{"key":"10.1038\/s41436-019-0473-6_bb0130","author":"Pfundt"},{"key":"10.1038\/s41436-019-0473-6_bb0135","author":"Jacquemin"},{"key":"10.1038\/s41436-019-0473-6_bb0140","author":"Livak"},{"key":"10.1038\/s41436-019-0473-6_bb0145","author":"Ng"},{"key":"10.1038\/s41436-019-0473-6_bb0150","author":"Adzhubei"},{"key":"10.1038\/s41436-019-0473-6_bb0155","author":"Kircher"},{"key":"10.1038\/s41436-019-0473-6_bb0160","author":"Lek"},{"key":"10.1038\/s41436-019-0473-6_bb0165","author":"Michelson"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41436-019-0473-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-019-0473-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021050140?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021050140?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-019-0473-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:48:20Z","timestamp":1761097700000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021050140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":32,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S1098360021050140"],"URL":"https:\/\/doi.org\/10.1038\/s41436-019-0473-6","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"De novo and biallelic DEAF1 variants cause a phenotypic spectrum","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/s41436-019-0473-6","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}