{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T13:25:39Z","timestamp":1778678739928,"version":"3.51.4"},"reference-count":39,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,9,1]],"date-time":"2017-09-01T00:00:00Z","timestamp":1504224000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T00:00:00Z","timestamp":1637712000000},"content-version":"vor","delay-in-days":1545,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2017,9]]},"DOI":"10.1038\/gim.2017.1","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T12:24:02Z","timestamp":1490271842000},"page":"1055-1063","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":226,"title":["A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology"],"prefix":"10.1016","volume":"19","author":[{"given":"Lisenka E.L.M.","family":"Vissers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten J.M.","family":"van Nimwegen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanda H.","family":"Schieving","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helger G.","family":"Yntema","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gert Jan","family":"van der Wilt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lotte","family":"Krabbenborg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone","family":"van der Burg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janneke","family":"Grutters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joris A.","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mich\u00e8l A.A.P.","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2017.1_bb0010","unstructured":"National Institute of Neurological Disorders and Stroke. https:\/\/www.ninds.nih.gov\/Disorders\/all-disorders."},{"key":"10.1038\/gim.2017.1_bb0015","author":"Gahl"},{"key":"10.1038\/gim.2017.1_bb0020","author":"van Nimwegen"},{"key":"10.1038\/gim.2017.1_bb0025","author":"CDBE2010 study group; European Brain Council"},{"key":"10.1038\/gim.2017.1_bb0030","author":"Singleton"},{"key":"10.1038\/gim.2017.1_bb0035","author":"Durr"},{"key":"10.1038\/gim.2017.1_bb0040","author":"Srivastava"},{"key":"10.1038\/gim.2017.1_bb0045","author":"Nolan"},{"key":"10.1038\/gim.2017.1_bb0050","author":"Das"},{"key":"10.1038\/gim.2017.1_bb0055","author":"Iglesias"},{"key":"10.1038\/gim.2017.1_bb0060","author":"Lazaridis"},{"key":"10.1038\/gim.2017.1_bb0065","author":"ACMG Laboratory Quality Assurance Committee"},{"key":"10.1038\/gim.2017.1_bb0070","author":"de Ligt"},{"key":"10.1038\/gim.2017.1_bb0075","unstructured":"Pfundt R, Del Rosario M, Vissers LE, et al. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. Genet Med 2016; e-pub ahead of print 27 October 2016."},{"key":"10.1038\/gim.2017.1_bb0080","unstructured":"Genome Diagnostics Nijmegen. Radboudumc, Human Genetics. https:\/\/www.radboudumc.nl\/Informatievoorverwijzers\/Genoomdiagnostiek\/en\/Pages\/Exomesequencing.aspx."},{"key":"10.1038\/gim.2017.1_bb0085","author":"Briggs"},{"key":"10.1038\/gim.2017.1_bb0090","author":"Neveling"},{"key":"10.1038\/gim.2017.1_bb0095","author":"FORGE Canada Consortium"},{"key":"10.1038\/gim.2017.1_bb0100","author":"Yang"},{"key":"10.1038\/gim.2017.1_bb0105","author":"Rauch"},{"key":"10.1038\/gim.2017.1_bb0110","author":"Huddleston"},{"key":"10.1038\/gim.2017.1_bb0115","author":"Gilissen"},{"key":"10.1038\/gim.2017.1_bb0120","author":"Vissers"},{"key":"10.1038\/gim.2017.1_bb0125","author":"Miyake"},{"key":"10.1038\/gim.2017.1_bb0130","author":"Coe"},{"key":"10.1038\/gim.2017.1_bb0135","author":"Mencacci"},{"key":"10.1038\/gim.2017.1_bb0140","author":"Soden"},{"key":"10.1038\/gim.2017.1_bb0145","author":"Saunders"},{"key":"10.1038\/gim.2017.1_bb0150","author":"Krabbenborg"},{"key":"10.1038\/gim.2017.1_bb0155","author":"Krabbenborg"},{"key":"10.1038\/gim.2017.1_bb0160","author":"Sie"},{"key":"10.1038\/gim.2017.1_bb0165","author":"American College of Medical Genetics and Genomics"},{"key":"10.1038\/gim.2017.1_bb0170","author":"ACMG Board of Directors"},{"key":"10.1038\/gim.2017.1_bb0175","author":"Regier"},{"key":"10.1038\/gim.2017.1_bb0180","author":"Hehir-Kwa"},{"key":"10.1038\/gim.2017.1_bb0185","author":"Yang"},{"key":"10.1038\/gim.2017.1_bb0190","author":"National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project"},{"key":"10.1038\/gim.2017.1_bb0195","author":"Bredenoord"},{"key":"10.1038\/gim.2017.1_bb0200","author":"Christenhusz"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim20171.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim20171","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021021626?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021021626?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/gim.2017.1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/gim20171.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:46:55Z","timestamp":1761097615000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021021626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":39,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["S1098360021021626"],"URL":"https:\/\/doi.org\/10.1038\/gim.2017.1","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2017,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2017.1","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}