{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T19:58:47Z","timestamp":1760385527490,"version":"3.37.3"},"reference-count":33,"publisher":"Informa UK Limited","issue":"4","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R21EY022779-01"],"award-info":[{"award-number":["R21EY022779-01"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Higher Education Commission of Pakistan","award":["NRPU No. 420"],"award-info":[{"award-number":["NRPU No. 420"]}]}],"content-domain":{"domain":["www.tandfonline.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmic Genetics"],"published-print":{"date-parts":[[2017,7,4]]},"DOI":"10.1080\/13816810.2016.1217550","type":"journal-article","created":{"date-parts":[[2016,9,23]],"date-time":"2016-09-23T15:53:11Z","timestamp":1474645991000},"page":"371-375","update-policy":"https:\/\/doi.org\/10.1080\/tandf_crossmark_01","source":"Crossref","is-referenced-by-count":8,"title":["Two missense mutations in <i>SALL4<\/i> in a patient with microphthalmia, coloboma, and optic nerve hypoplasia"],"prefix":"10.1080","volume":"38","author":[{"given":"E.","family":"Ullah","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA"},{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Madireddy","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Lao","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Ling-Fung Tang","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Wan","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Bardakjian","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Einstein Healthcare Network, Philadelphia, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Kopinsky","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Einstein Healthcare Network, Philadelphia, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.-Y.","family":"Kwok","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Schneider","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Einstein Healthcare Network, Philadelphia, Pennsylvania, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Baranzini","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ansar","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Slavotinek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2016,9,23]]},"reference":[{"key":"CIT0001","doi-asserted-by":"publisher","DOI":"10.1159\/000071048"},{"key":"CIT0002","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.473"},{"key":"CIT0003","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019505"},{"key":"CIT0004","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019901"},{"key":"CIT0005","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20215"},{"key":"CIT0006","first-page":"1195","volume-title":"Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family","volume":"71","author":"Al-Baradie R","year":"2002"},{"key":"CIT0007","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2979"},{"key":"CIT0008","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt643"},{"key":"CIT0009","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.7.457"},{"key":"CIT0010","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"CIT0011","first-page":"89","volume":"36","author":"Powell CM","year":"1999","journal-title":"J Med Genet"},{"key":"CIT0012","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34426"},{"key":"CIT0013","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9362"},{"key":"CIT0014","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-137"},{"key":"CIT0015","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.68"},{"key":"CIT0016","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H"},{"key":"CIT0017","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12543"},{"key":"CIT0018","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22033"},{"key":"CIT0019","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds477"},{"key":"CIT0020","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12379"},{"key":"CIT0021","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.268"},{"key":"CIT0022","first-page":"830","volume-title":"Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay","volume":"28","author":"Borozdin W","year":"2007"},{"key":"CIT0023","unstructured":"Kohlhase J. SALL4-related disorders. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132015. August 16, 2004 [updated January 15, 2015]."},{"key":"CIT0024","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0124-7"},{"key":"CIT0025","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.07.124"},{"key":"CIT0026","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2007.03.050"},{"key":"CIT0027","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02457"},{"key":"CIT0028","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C600122200"},{"key":"CIT0029","doi-asserted-by":"publisher","DOI":"10.1242\/dev.099374"},{"volume-title":"Expression of the zebrafish genome during embryogenesis (NIH R01 RR15402). ZFIN Direct Data Submission","year":"2001","author":"Thisse B","key":"CIT0030"},{"key":"CIT0031","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0809321105"},{"volume-title":"In","year":"1993","author":"Bardakjian T","key":"CIT0032"},{"volume-title":"[updated July","year":"2004","key":"CIT0033"}],"container-title":["Ophthalmic Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.tandfonline.com\/doi\/pdf\/10.1080\/13816810.2016.1217550","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,6]],"date-time":"2020-09-06T16:47:10Z","timestamp":1599410830000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.tandfonline.com\/doi\/full\/10.1080\/13816810.2016.1217550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,23]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,7,4]]}},"alternative-id":["10.1080\/13816810.2016.1217550"],"URL":"https:\/\/doi.org\/10.1080\/13816810.2016.1217550","relation":{},"ISSN":["1381-6810","1744-5094"],"issn-type":[{"type":"print","value":"1381-6810"},{"type":"electronic","value":"1744-5094"}],"subject":[],"published":{"date-parts":[[2016,9,23]]},"assertion":[{"value":"The publishing and review policy for this title is described in its Aims & Scope.","order":1,"name":"peerreview_statement","label":"Peer Review Statement"},{"value":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iopg20","URL":"http:\/\/www.tandfonline.com\/action\/journalInformation?show=aimsScope&journalCode=iopg20","order":2,"name":"aims_and_scope_url","label":"Aim & Scope"},{"value":"2016-04-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-07-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2016-09-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}