{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T16:24:38Z","timestamp":1790871878728,"version":"4.1.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2019,2,1]],"date-time":"2019-02-01T00:00:00Z","timestamp":1548979200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Division of Cancer Epidemiology and Genetics"},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01CA143167"],"award-info":[{"award-number":["R01CA143167"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","aaojournal.org","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2019,2]]},"DOI":"10.1016\/j.ophtha.2018.09.038","type":"journal-article","created":{"date-parts":[[2018,10,16]],"date-time":"2018-10-16T22:31:50Z","timestamp":1539729110000},"page":"296-304","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["DICER1 Syndrome"],"prefix":"10.1016","volume":"126","author":[{"given":"Laryssa A.","family":"Huryn","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Turriff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura A.","family":"Harney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann Garrity","family":"Carr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Chevez-Barrios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan S.","family":"Gombos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radha","family":"Ram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3015-3545","authenticated-orcid":false,"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. Ashley","family":"Hill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3771-6120","authenticated-orcid":false,"given":"Wadih M.","family":"Zein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris Ann P.","family":"Schultz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Bishop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8193-1488","authenticated-orcid":false,"given":"Douglas R.","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5943","key":"10.1016\/j.ophtha.2018.09.038_bib1","doi-asserted-by":"crossref","DOI":"10.1126\/science.1174334","article-title":"DICER1 mutations in familial pleuropulmonary blastoma","volume":"325","author":"Hill","year":"2009","journal-title":"Science"},{"issue":"10","key":"10.1016\/j.ophtha.2018.09.038_bib2","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/nrc3802","article-title":"DICER1: mutations, microRNAs and mechanisms","volume":"14","author":"Foulkes","year":"2014","journal-title":"Nat Rev Cancer"},{"issue":"12","key":"10.1016\/j.ophtha.2018.09.038_bib3","doi-asserted-by":"crossref","first-page":"e76","DOI":"10.1158\/1078-0432.CCR-17-0629","article-title":"PTEN, DICER1, FH, and their associated tumor susceptibility syndromes: clinical features, genetics, and surveillance recommendations in childhood","volume":"23","author":"Schultz","year":"2017","journal-title":"Clin Cancer Res"},{"issue":"6","key":"10.1016\/j.ophtha.2018.09.038_bib4","doi-asserted-by":"crossref","first-page":"504","DOI":"10.2350\/15-10-1732-OA.1","article-title":"Pleuropulmonary blastoma: evolution of an entity as an entry into a familial tumor predisposition syndrome","volume":"18","author":"Dehner","year":"2015","journal-title":"Ped Dev Pathol"},{"issue":"2","key":"10.1016\/j.ophtha.2018.09.038_bib5","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/gim.2016.83","article-title":"Macrocephaly associated with the DICER1 syndrome","volume":"19","author":"Khan","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.ophtha.2018.09.038_bib6","series-title":"GeneReviews\u00ae [Internet]","article-title":"DICER1-related disorders. April 24, 2014","author":"Doros","year":"1993"},{"issue":"2","key":"10.1016\/j.ophtha.2018.09.038_bib7","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1097\/PCR.0000000000000027","article-title":"DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions","volume":"19","author":"Schultz","year":"2014","journal-title":"Pathol Case Rev"},{"issue":"2","key":"10.1016\/j.ophtha.2018.09.038_bib8","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/cncr.29032","article-title":"Pleuropulmonary blastoma: a report on 350 central pathology\u2013confirmed pleuropulmonary blastoma cases by the International Pleuropulmonary Blastoma Registry","volume":"121","author":"Messinger","year":"2015","journal-title":"Cancer"},{"issue":"12","key":"10.1016\/j.ophtha.2018.09.038_bib9","doi-asserted-by":"crossref","first-page":"2552","DOI":"10.1016\/j.ophtha.2013.05.015","article-title":"Ciliary body medulloepithelioma: analysis of 41 cases","volume":"120","author":"Kaliki","year":"2013","journal-title":"Ophthalmology"},{"issue":"5","key":"10.1016\/j.ophtha.2018.09.038_bib10","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1097\/IAE.0000000000000445","article-title":"Tumors of the nonpigmented epithelium of the ciliary body: the Lorenz E. Zimmerman Tribute Lecture","volume":"35","author":"Shields","year":"2015","journal-title":"Retina"},{"issue":"5","key":"10.1016\/j.ophtha.2018.09.038_bib11","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/j.humpath.2015.01.020","article-title":"Somatic DICER1 gene mutation in sporadic intraocular medulloepithelioma without pleuropulmonary blastoma syndrome","volume":"46","author":"Durieux","year":"2015","journal-title":"Hum Pathol"},{"issue":"7","key":"10.1016\/j.ophtha.2018.09.038_bib12","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1136\/bjo.2010.189779","article-title":"Ciliary body medulloepithelioma: four cases associated with pleuropulmonary blastoma\u2014a report from the International Pleuropulmonary Blastoma Registry","volume":"95","author":"Priest","year":"2011","journal-title":"Br J Ophthalmol"},{"key":"10.1016\/j.ophtha.2018.09.038_bib13","doi-asserted-by":"crossref","first-page":"2251","DOI":"10.1158\/1078-0432.CCR-17-3089","article-title":"DICER1 and associated conditions: identification of at-risk individuals and recommended surveillance strategies","volume":"24","author":"Schultz","year":"2018","journal-title":"Clin Cancer Res"},{"issue":"7338","key":"10.1016\/j.ophtha.2018.09.038_bib14","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/nature09830","article-title":"DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration","volume":"471","author":"Kaneko","year":"2011","journal-title":"Nature"},{"issue":"5","key":"10.1016\/j.ophtha.2018.09.038_bib15","doi-asserted-by":"crossref","first-page":"1614","DOI":"10.1210\/jc.2016-2954","article-title":"Quantification of thyroid cancer and multinodular goiter risk in the DICER1 syndrome: a family-based cohort study","volume":"102","author":"Khan","year":"2017","journal-title":"J\u00a0Clin Endocrinol Metab"},{"issue":"1","key":"10.1016\/j.ophtha.2018.09.038_bib16","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1007\/s10633-008-9155-4","article-title":"ISCEV Standard for full-field clinical electroretinography (2008 update)","volume":"118","author":"Marmor","year":"2009","journal-title":"Doc Ophthalmol"},{"issue":"1","key":"10.1016\/j.ophtha.2018.09.038_bib17","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-014-9473-7","article-title":"ISCEV Standard for full-field clinical electroretinography (2015 update)","volume":"130","author":"McCulloch","year":"2015","journal-title":"Doc Ophthalmol"},{"issue":"7616","key":"10.1016\/j.ophtha.2018.09.038_bib18","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"issue":"7571","key":"10.1016\/j.ophtha.2018.09.038_bib19","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A\u00a0global reference for human genetic variation","volume":"526","author":"Consortium","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ophtha.2018.09.038_bib20","unstructured":"Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. Available at: http:\/\/evs.gs.washington.edu\/EVS. Accessed October 2017."},{"issue":"Database issue","key":"10.1016\/j.ophtha.2018.09.038_bib22","doi-asserted-by":"crossref","first-page":"D862","DOI":"10.1093\/nar\/gkv1222","article-title":"ClinVar: public archive of interpretations of clinically relevant variants","volume":"44","author":"Landrum","year":"2016","journal-title":"Nucl Acids Res"},{"issue":"4","key":"10.1016\/j.ophtha.2018.09.038_bib23","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"issue":"5","key":"10.1016\/j.ophtha.2018.09.038_bib24","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"issue":"1","key":"10.1016\/j.ophtha.2018.09.038_bib25","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1007\/s00401-014-1285-z","article-title":"Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations","volume":"128","author":"de Kock","year":"2014","journal-title":"Acta Neuropathol"},{"issue":"7","key":"10.1016\/j.ophtha.2018.09.038_bib26","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1136\/jmedgenet-2012-100898","article-title":"Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma","volume":"49","author":"Sabbaghian","year":"2012","journal-title":"J\u00a0Med Genet"},{"issue":"6","key":"10.1016\/j.ophtha.2018.09.038_bib27","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1016\/S0039-6257(02)00357-0","article-title":"Optic disk drusen","volume":"47","author":"Auw-Haedrich","year":"2002","journal-title":"Surv Ophthalmol"},{"key":"10.1016\/j.ophtha.2018.09.038_bib28","series-title":"Handbook of Ocular Disease Management","article-title":"Optic nerve head drusen","author":"Sowka","year":"2001"},{"issue":"1","key":"10.1016\/j.ophtha.2018.09.038_bib29","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1096\/fj.15-279745","article-title":"The impact of microRNA gene regulation on the survival and function of mature cell types in the eye","volume":"30","author":"Sundermeier","year":"2016","journal-title":"FASEB J"},{"key":"10.1016\/j.ophtha.2018.09.038_bib30","first-page":"1","article-title":"Histological characterization of the Dicer1 mutant zebrafish retina","author":"Akhtar","year":"2015","journal-title":"J\u00a0Ophthalmol"},{"issue":"8","key":"10.1016\/j.ophtha.2018.09.038_bib31","doi-asserted-by":"crossref","first-page":"3780","DOI":"10.1096\/fj.14-254292","article-title":"DICER1 is essential for survival of postmitotic rod photoreceptor cells in mice","volume":"28","author":"Sundermeier","year":"2014","journal-title":"FASEB J"},{"issue":"14","key":"10.1016\/j.ophtha.2018.09.038_bib32","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1242\/dev.121533","article-title":"MicroRNAs are essential for differentiation of the retinal pigmented epithelium and maturation of adjacent photoreceptors","volume":"142","author":"Ohana","year":"2015","journal-title":"Development"},{"issue":"2","key":"10.1016\/j.ophtha.2018.09.038_bib33","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/cge.12758","article-title":"Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa","volume":"90","author":"Rose","year":"2016","journal-title":"Clin Genet"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016164201830808X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S016164201830808X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,8,8]],"date-time":"2019-08-08T13:37:14Z","timestamp":1565271434000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S016164201830808X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,2]]},"references-count":32,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,2]]}},"alternative-id":["S016164201830808X"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2018.09.038","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2019,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"DICER1 Syndrome","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2018.09.038","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Published by Elsevier on behalf of the American Academy of Ophthalmology","name":"copyright","label":"Copyright"}]}}