{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T11:02:33Z","timestamp":1781521353837,"version":"3.54.1"},"reference-count":31,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T00:00:00Z","timestamp":1637712000000},"content-version":"vor","delay-in-days":146,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"British Heart Foundation","award":["SP\/13\/5\/30288"],"award-info":[{"award-number":["SP\/13\/5\/30288"]}]},{"name":"British Heart Foundation","award":["SP\/13\/5\/30288"],"award-info":[{"award-number":["SP\/13\/5\/30288"]}]},{"name":"British Heart Foundation","award":["SP\/13\/5\/30288"],"award-info":[{"award-number":["SP\/13\/5\/30288"]}]},{"name":"British Heart Foundation","award":["SP\/13\/5\/30288"],"award-info":[{"award-number":["SP\/13\/5\/30288"]}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1038\/s41436-021-01136-7","type":"journal-article","created":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T11:36:09Z","timestamp":1618572969000},"page":"1315-1324","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes"],"prefix":"10.1016","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5282-6662","authenticated-orcid":false,"given":"Silvia","family":"Martin-Almedina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2792-3158","authenticated-orcid":false,"given":"Kazim","family":"Ogmen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5477-0965","authenticated-orcid":false,"given":"Ege","family":"Sackey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9502-6590","authenticated-orcid":false,"given":"Dionysios","family":"Grigoriadis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9942-2718","authenticated-orcid":false,"given":"Christina","family":"Karapouliou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noeline","family":"Nadarajah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4331-1250","authenticated-orcid":false,"given":"Cathrine","family":"Ebbing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0539-9343","authenticated-orcid":false,"given":"Jenny","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9905-0654","authenticated-orcid":false,"given":"Rhiannon","family":"Mellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Kortuem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7353-6178","authenticated-orcid":false,"given":"Mary Beth","family":"Dinulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassandra","family":"Polun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherri","family":"Bale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giles","family":"Atton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7001-668X","authenticated-orcid":false,"given":"Alexandra","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0470-768X","authenticated-orcid":false,"given":"Hallvard","family":"Reigstad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6102-1513","authenticated-orcid":false,"given":"Gunnar","family":"Houge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Axel","family":"von der Wense","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolf-Henning","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1369-6951","authenticated-orcid":false,"given":"Steve","family":"Jeffery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1901-6849","authenticated-orcid":false,"given":"Peter S.","family":"Mortimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7840-5644","authenticated-orcid":false,"given":"Kristiana","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7688-615X","authenticated-orcid":false,"given":"Katherine S.","family":"Josephs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Robart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9987-4223","authenticated-orcid":false,"given":"Mark D.","family":"Kilby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Vallee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome L.","family":"Gorski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0609-2738","authenticated-orcid":false,"given":"Maja","family":"Hempel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8048-6682","authenticated-orcid":false,"given":"Siren","family":"Berland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6629-4118","authenticated-orcid":false,"given":"Sahar","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2190-1356","authenticated-orcid":false,"given":"Pia","family":"Ostergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/s41436-021-01136-7_bb0010","author":"Kania"},{"key":"10.1038\/s41436-021-01136-7_bb0015","author":"Martin-Almedina"},{"key":"10.1038\/s41436-021-01136-7_bb0020","author":"Zhang"},{"key":"10.1038\/s41436-021-01136-7_bb0025","author":"Li"},{"key":"10.1038\/s41436-021-01136-7_bb0030","author":"Yu"},{"key":"10.1038\/s41436-021-01136-7_bb0035","author":"Amyere"},{"key":"10.1038\/s41436-021-01136-7_bb0040","author":"Duran"},{"key":"10.1038\/s41436-021-01136-7_bb0045","author":"Vivanti"},{"key":"10.1038\/s41436-021-01136-7_bb0050","author":"Wooderchak-Donahue"},{"key":"10.1038\/s41436-021-01136-7_bb0055","author":"Lord"},{"key":"10.1038\/s41436-021-01136-7_bb0060","author":"Sobreira"},{"key":"10.1038\/s41436-021-01136-7_bb0065","author":"Sarica"},{"key":"10.1038\/s41436-021-01136-7_bb0070","author":"Weissleder"},{"key":"10.1038\/s41436-021-01136-7_bb0075","author":"O\u2019Leary"},{"key":"10.1038\/s41436-021-01136-7_bb0080","author":"Karczewski"},{"key":"10.1038\/s41436-021-01136-7_bb0085","author":"Rentzsch"},{"key":"10.1038\/s41436-021-01136-7_bb0090","author":"Schwarz"},{"key":"10.1038\/s41436-021-01136-7_bb0095","author":"Adzhubei"},{"key":"10.1038\/s41436-021-01136-7_bb0100","author":"Ou"},{"key":"10.1038\/s41436-021-01136-7_bb0105","author":"Madeira"},{"key":"10.1038\/s41436-021-01136-7_bb0110","author":"Kornev"},{"key":"10.1038\/s41436-021-01136-7_bb0115","author":"Krupa"},{"key":"10.1038\/s41436-021-01136-7_bb0120","author":"Arighi"},{"key":"10.1038\/s41436-021-01136-7_bb0125","author":"Zenker"},{"key":"10.1038\/s41436-021-01136-7_bb0130","author":"Burrows"},{"key":"10.1038\/s41436-021-01136-7_bb0135","author":"Karkkainen"},{"key":"10.1038\/s41436-021-01136-7_bb0140","author":"Fehnel"},{"key":"10.1038\/s41436-021-01136-7_bb0145","author":"Lapinski"},{"key":"10.1038\/s41436-021-01136-7_bb0150","author":"Revencu"},{"key":"10.1038\/s41436-021-01136-7_bb0155","author":"Revencu"},{"key":"10.1038\/s41436-021-01136-7_bb0160","author":"Richards"}],"updated-by":[{"DOI":"10.1038\/s41436-021-01202-0","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000}}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41436-021-01136-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-021-01136-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021050401?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021050401?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-021-01136-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T19:39:16Z","timestamp":1691696356000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021050401"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["S1098360021050401"],"URL":"https:\/\/doi.org\/10.1038\/s41436-021-01136-7","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/s41436-021-01202-0","asserted-by":"object"}]},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/s41436-021-01136-7","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"}]}}