{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:55:58Z","timestamp":1789516558793,"version":"build-2803163510"},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,1,23]],"date-time":"2017-01-23T00:00:00Z","timestamp":1485129600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["2T35HL007616\u201036"],"award-info":[{"award-number":["2T35HL007616\u201036"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000893","name":"Simons Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000893","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1111\/cge.12956","type":"journal-article","created":{"date-parts":[[2017,1,23]],"date-time":"2017-01-23T05:02:58Z","timestamp":1485147778000},"page":"221-223","source":"Crossref","is-referenced-by-count":34,"title":["Association of the missense variant p.<scp>Arg203Trp<\/scp> in <i><scp>PACS1<\/scp><\/i> as a cause of intellectual disability and seizures"],"prefix":"10.1111","volume":"92","author":[{"given":"D.","family":"Stern","sequence":"first","affiliation":[{"name":"Department of Pediatrics Columbia University Medical Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.T.","family":"Cho","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Chikarmane","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Willaert","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Retterer","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Kendall","sequence":"additional","affiliation":[{"name":"VMP Genetics  Roswell GA USA"},{"name":"Department of Kinesiology University of Georgia  Athens GA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Deardorff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics Children's Hospital of Philadelphia  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Hopkins","sequence":"additional","affiliation":[{"name":"Division of Neurology The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bedoukian","sequence":"additional","affiliation":[{"name":"Individualized Medical Genetics Center, Division of Genetics Children's Hospital of Philadelphia  Philadelphia PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, UCSF Benioff Children's Hospital University of California  San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Schrier Vergano","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters  Norfolk VA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Spangler","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters  Norfolk VA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"McDonald","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Duke University Medical Center  Durham NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"McConkie\u2010Rosell","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Duke University Medical Center  Durham NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.K.","family":"Burton","sequence":"additional","affiliation":[{"name":"Division of Genetics, Birth Defects &amp; Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.H.","family":"Kim","sequence":"additional","affiliation":[{"name":"Division of Genetics, Birth Defects &amp; Metabolism Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Oundjian","sequence":"additional","affiliation":[{"name":"Valley Hospital  Ridgewood NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Kronn","sequence":"additional","affiliation":[{"name":"New York Medical College  Valhalla NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Chandy","sequence":"additional","affiliation":[{"name":"New York Medical College  Valhalla NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Baskin","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Guillen Sacoto","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.M.","family":"Wentzensen","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.M.","family":"McLaughlin","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"McKnight","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Medical Center  New York NY USA"},{"name":"Department of Medicine Columbia University Medical Center  New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,23]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12544"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.013"},{"key":"e_1_2_2_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37476"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81420-8"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg596"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12956","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12956","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:20:14Z","timestamp":1694323214000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12956"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,23]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1111\/cge.12956"],"URL":"https:\/\/doi.org\/10.1111\/cge.12956","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,23]]}}}