{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T12:59:46Z","timestamp":1785243586274,"version":"3.55.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,6,1]],"date-time":"2018-06-01T00:00:00Z","timestamp":1527811200000},"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":1272,"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":[[2018,6]]},"DOI":"10.1038\/gim.2017.159","type":"journal-article","created":{"date-parts":[[2017,10,12]],"date-time":"2017-10-12T11:11:38Z","timestamp":1507806698000},"page":"630-638","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":115,"title":["Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature"],"prefix":"10.1016","volume":"20","author":[{"given":"Nadine N.","family":"Hauer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernt","family":"Popp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Schoeller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Schuhmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Hisado-Oliva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Klinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udo","family":"Trautmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antje","family":"Wiesener","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami","family":"Abou Jamra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdmute","family":"Kunstmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dagmar","family":"Wieczorek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Uebe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvia","family":"Ferrazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"B\u00fcttner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif B.","family":"Ekici","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinrich","family":"Sticht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helmuth-G\u00fcnther","family":"D\u00f6rr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian T.","family":"Thiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/gim.2017.159_bb0010","author":"on behalf of the American College of Medical Genetics (ACMG) Professional Practice and Guidelines Committee"},{"key":"10.1038\/gim.2017.159_bb0015","author":"Rauch"},{"key":"10.1038\/gim.2017.159_bb0020","author":"Argente"},{"key":"10.1038\/gim.2017.159_bb0025","author":"Mumtaz"},{"key":"10.1038\/gim.2017.159_bb0030","author":"Green"},{"key":"10.1038\/gim.2017.159_bb0035","author":"Shimizu"},{"key":"10.1038\/gim.2017.159_bb0040","author":"Amin"},{"key":"10.1038\/gim.2017.159_bb0045","author":"Rappold"},{"key":"10.1038\/gim.2017.159_bb0050","author":"Bonafe"},{"key":"10.1038\/gim.2017.159_bb0055","author":"Allen"},{"key":"10.1038\/gim.2017.159_bb0060","author":"Cohen"},{"key":"10.1038\/gim.2017.159_bb0065","doi-asserted-by":"crossref","unstructured":"Waldman LA, Chia DJ. Towards identification of molecular mechanisms of short stature. Int J Pediatr Endocrinol 2013 2013: 19.","DOI":"10.1186\/1687-9856-2013-19"},{"key":"10.1038\/gim.2017.159_bb0070","author":"Visscher"},{"key":"10.1038\/gim.2017.159_bb0075","author":"Wood"},{"key":"10.1038\/gim.2017.159_bb0080","author":"Marouli"},{"key":"10.1038\/gim.2017.159_bb0085","author":"Guo"},{"key":"10.1038\/gim.2017.159_bb0090","author":"Zahnleiter"},{"key":"10.1038\/gim.2017.159_bb0095","author":"Zahnleiter"},{"key":"10.1038\/gim.2017.159_bb0100","author":"Wit"},{"key":"10.1038\/gim.2017.159_bb0105","author":"Delude"},{"key":"10.1038\/gim.2017.159_bb0110","author":"Richards"},{"key":"10.1038\/gim.2017.159_bb0115","author":"Schubbert"},{"key":"10.1038\/gim.2017.159_bb0120","author":"Lederer"},{"key":"10.1038\/gim.2017.159_bb0125","author":"Miyake"},{"key":"10.1038\/gim.2017.159_bb0130","author":"Moog"},{"key":"10.1038\/gim.2017.159_bb0135","author":"Tompson"},{"key":"10.1038\/gim.2017.159_bb0140","author":"Hisado-Oliva"},{"key":"10.1038\/gim.2017.159_bb0145","author":"Vasques"},{"key":"10.1038\/gim.2017.159_bb0150","author":"Quintos"},{"key":"10.1038\/gim.2017.159_bb0155","author":"Bartels"},{"key":"10.1038\/gim.2017.159_bb0160","author":"Posey"},{"key":"10.1038\/gim.2017.159_bb0165","author":"Richmond"},{"key":"10.1038\/gim.2017.159_bb0170","author":"Ali"},{"key":"10.1038\/gim.2017.159_bb0175","author":"Franklin"},{"key":"10.1038\/gim.2017.159_bb0180","author":"Maass"},{"key":"10.1038\/gim.2017.159_bb0185","author":"Movsesian"},{"key":"10.1038\/gim.2017.159_bb0190","author":"Carmichael"},{"key":"10.1038\/gim.2017.159_bb0195","author":"Silventoinen"},{"key":"10.1038\/gim.2017.159_bb0200","author":"Silventoinen"},{"key":"10.1038\/gim.2017.159_bb0205","author":"de Ligt"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/gim2017159.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/gim2017159","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021010017?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021010017?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/gim.2017.159","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/gim2017159.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:47:42Z","timestamp":1761097662000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021010017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":40,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["S1098360021010017"],"URL":"https:\/\/doi.org\/10.1038\/gim.2017.159","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/gim.2017.159","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}