{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T18:36:29Z","timestamp":1794508589474,"version":"4.9.1"},"reference-count":40,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,9,1]],"date-time":"2019-09-01T00:00:00Z","timestamp":1567296000000},"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":815,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"crossref","award":["1099165"],"award-info":[{"award-number":["1099165"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"crossref"}]},{"name":"A*STAR JCO","award":["Career Development Grant"],"award-info":[{"award-number":["Career Development Grant"]}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","award":["Department of Ophthalmology and Visual Sciences, Moran Eye Centre, University of Utah"],"award-info":[{"award-number":["Department of Ophthalmology and Visual Sciences, Moran Eye Centre, University of Utah"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1038\/s41436-019-0476-3","type":"journal-article","created":{"date-parts":[[2019,4,9]],"date-time":"2019-04-09T19:07:30Z","timestamp":1554836850000},"page":"2103-2115","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"title":["ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder"],"prefix":"10.1016","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7285-0253","authenticated-orcid":false,"given":"Lloyd B.","family":"Williams","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asif","family":"Javed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amin","family":"Sabri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise J.","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad D.","family":"Huff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R.","family":"Grigg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu Ting","family":"Heng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexis J.","family":"Khng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris H.I.M.","family":"Hollink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux A.","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah A.","family":"Owen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krista","family":"Kinard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Greenlees","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danica","family":"Novacic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Nida Sen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih M.","family":"Zein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George M.","family":"Rodgers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert T.","family":"Vitale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neena B.","family":"Haider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Axel M.","family":"Hillmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline C.","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Shankaracharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anson","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark C.","family":"Gillies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon","family":"van Slegtenhorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. Martin","family":"van Hagen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom O.A.R.","family":"Missotten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary L.","family":"Farley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Polo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Malatack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Curtin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Arbuckle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen I.","family":"Alexander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan","family":"Chircop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Davila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen B.","family":"Digre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robyn V.","family":"Jamieson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret M.","family":"DeAngelis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1038\/s41436-019-0476-3_bb0010","author":"Boughman"},{"key":"10.1038\/s41436-019-0476-3_bb0015","author":"Hartong"},{"key":"10.1038\/s41436-019-0476-3_bb0020","author":"Tantravahi"},{"key":"10.1038\/s41436-019-0476-3_bb0025","author":"Deangelis"},{"key":"10.1038\/s41436-019-0476-3_bb0030","author":"Owen"},{"key":"10.1038\/s41436-019-0476-3_bb0035","author":"Ma"},{"key":"10.1038\/s41436-019-0476-3_bb0040","author":"Hu"},{"key":"10.1038\/s41436-019-0476-3_bb0045","author":"Drmanac"},{"key":"10.1038\/s41436-019-0476-3_bb0050","author":"1000 Genomes Project Consortium"},{"key":"10.1038\/s41436-019-0476-3_bb0055","author":"Javed"},{"key":"10.1038\/s41436-019-0476-3_bb0060","author":"McInerney-Leo"},{"key":"10.1038\/s41436-019-0476-3_bb0065","author":"Cooper"},{"key":"10.1038\/s41436-019-0476-3_bb0070","author":"Adzhubei"},{"key":"10.1038\/s41436-019-0476-3_bb0075","author":"Ng"},{"key":"10.1038\/s41436-019-0476-3_bb0080","author":"Siepel"},{"key":"10.1038\/s41436-019-0476-3_bb0085","author":"Morgan"},{"key":"10.1038\/s41436-019-0476-3_bb0090","author":"Bosch Grau"},{"key":"10.1038\/s41436-019-0476-3_bb0095","author":"Conduit"},{"key":"10.1038\/s41436-019-0476-3_bb0100","author":"Reiter"},{"key":"10.1038\/s41436-019-0476-3_bb0105","author":"Clancy"},{"key":"10.1038\/s41436-019-0476-3_bb0110","author":"Yamaguchi"},{"key":"10.1038\/s41436-019-0476-3_bb0115","author":"Ryazanov"},{"key":"10.1038\/s41436-019-0476-3_bb0120","author":"Durrbach"},{"key":"10.1038\/s41436-019-0476-3_bb0125","author":"Heine"},{"key":"10.1038\/s41436-019-0476-3_bb0130","author":"Chakarova"},{"key":"10.1038\/s41436-019-0476-3_bb0135","author":"Megaw"},{"key":"10.1038\/s41436-019-0476-3_bb0140","author":"Veleri"},{"key":"10.1038\/s41436-019-0476-3_bb0145","author":"Li"},{"key":"10.1038\/s41436-019-0476-3_bb0150","author":"Bachmann-Gagescu"},{"key":"10.1038\/s41436-019-0476-3_bb0155","author":"Anand"},{"key":"10.1038\/s41436-019-0476-3_bb0160","author":"Goto"},{"key":"10.1038\/s41436-019-0476-3_bb0165","author":"Pellissier"},{"key":"10.1038\/s41436-019-0476-3_bb0170","author":"Ko"},{"key":"10.1038\/s41436-019-0476-3_bb0175","author":"Yamada"},{"key":"10.1038\/s41436-019-0476-3_bb0180","author":"Zhou"},{"key":"10.1038\/s41436-019-0476-3_bb0185","author":"Ryzhakov"},{"key":"10.1038\/s41436-019-0476-3_bb0190","author":"Wang"},{"key":"10.1038\/s41436-019-0476-3_bb0195","author":"Chen"},{"key":"10.1038\/s41436-019-0476-3_bb0200","author":"Lei"},{"key":"10.1038\/s41436-019-0476-3_bb0205","author":"Ma"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/s41436-019-0476-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-019-0476-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021050164?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360021050164?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/s41436-019-0476-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:48:45Z","timestamp":1761097725000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360021050164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9]]},"references-count":40,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["S1098360021050164"],"URL":"https:\/\/doi.org\/10.1038\/s41436-019-0476-3","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2019,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1038\/s41436-019-0476-3","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics","name":"copyright","label":"Copyright"}]}}