{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:13Z","timestamp":1747146193350,"version":"3.40.5"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T00:00:00Z","timestamp":1653350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN\u2010154279","MFE\u2010176616"],"award-info":[{"award-number":["FDN\u2010154279","MFE\u2010176616"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","award":["OGI\u2010147"],"award-info":[{"award-number":["OGI\u2010147"]}],"id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,8]]},"DOI":"10.1002\/ajmg.a.62849","type":"journal-article","created":{"date-parts":[[2022,5,24]],"date-time":"2022-05-24T08:31:59Z","timestamp":1653381119000},"page":"2493-2496","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel intragenic <i>DPF2<\/i> deletion identified by genome sequencing in an adult with clinical features of <scp>Coffin\u2010Siris<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1327-2622","authenticated-orcid":false,"given":"Stella K.","family":"MacDonald","sequence":"first","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aren E.","family":"Marshall","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2834-6973","authenticated-orcid":false,"given":"Gabrielle","family":"Lemire","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taila","family":"Hartley","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Care4Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin D.","family":"Kernohan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"},{"name":"Newborn Screening Ontario  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4186-8052","authenticated-orcid":false,"given":"Kym M.","family":"Boycott","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa  Ottawa Ontario Canada"},{"name":"Department of Genetics Children's Hospital of Eastern Ontario  Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,24]]},"reference":[{"key":"e_1_2_1_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2287-8"},{"key":"e_1_2_1_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1700328114"},{"key":"e_1_2_1_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38838"},{"key":"e_1_2_1_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61262"},{"key":"e_1_2_1_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31415"},{"key":"e_1_2_1_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13935"},{"key":"e_1_2_1_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2019.10.007"},{"key":"e_1_2_1_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0686-8"},{"key":"e_1_2_1_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12225"},{"key":"e_1_2_1_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.01.014"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62849","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62849","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62849","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T06:17:05Z","timestamp":1692857825000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62849"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,24]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2022,8]]}},"alternative-id":["10.1002\/ajmg.a.62849"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62849","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2022,5,24]]},"assertion":[{"value":"2022-01-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-05-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}