{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T06:50:43Z","timestamp":1782197443911,"version":"3.54.5"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2016,4,25]],"date-time":"2016-04-25T00:00:00Z","timestamp":1461542400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova","doi-asserted-by":"publisher","award":["PRVOUK-P24\/LF1\/3, UNCE 20411"],"award-info":[{"award-number":["PRVOUK-P24\/LF1\/3, UNCE 20411"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova","doi-asserted-by":"publisher","award":["SVV UK 260256\/2016, PRVOUK-P24\/LF1\/3, GAUK 400\/54\/227015"],"award-info":[{"award-number":["SVV UK 260256\/2016, PRVOUK-P24\/LF1\/3, GAUK 400\/54\/227015"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, the Foundation Fighting Blindness"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Graefes Arch Clin Exp Ophthalmol"],"published-print":{"date-parts":[[2016,9]]},"DOI":"10.1007\/s00417-016-3358-2","type":"journal-article","created":{"date-parts":[[2016,4,24]],"date-time":"2016-04-24T23:10:05Z","timestamp":1461539405000},"page":"1833-1839","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants"],"prefix":"10.1007","volume":"254","author":[{"given":"Bohdan","family":"Kousal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubica","family":"Dudakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Gaillyova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Hejtmankova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavel","family":"Diblik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Liskova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,4,25]]},"reference":[{"key":"3358_CR1","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1002\/humu.21653","volume":"33","author":"K Bujakowska","year":"2012","unstructured":"Bujakowska K, Audo I, Mohand-Said S, Lancelot ME, Antonio A, Germain A, Leveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C (2012) CRB1 mutations in inherited retinal dystrophies. Hum Mutat 33:306\u2013315. doi: 10.1002\/humu.21653","journal-title":"Hum Mutat"},{"key":"3358_CR2","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1016\/j.preteyeres.2008.05.003","volume":"27","author":"AI Hollander den","year":"2008","unstructured":"den Hollander AI, Roepman R, Koenekoop RK, Cremers FP (2008) Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res 27:391\u2013419. doi: 10.1016\/j.preteyeres.2008.05.003","journal-title":"Prog Retin Eye Res"},{"key":"3358_CR3","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","volume":"368","author":"DT Hartong","year":"2006","unstructured":"Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa. Lancet 368:1795\u20131809. doi: 10.1016\/S0140-6736(06)69740-7","journal-title":"Lancet"},{"key":"3358_CR4","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1167\/iovs.10-6106","volume":"52","author":"RG Weleber","year":"2011","unstructured":"Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM (2011) The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci 52:292\u2013302. doi: 10.1167\/iovs.10-6106","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"3358_CR5","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1111\/cge.12203","volume":"84","author":"SP Daiger","year":"2013","unstructured":"Daiger SP, Sullivan LS, Bowne SJ (2013) Genes and mutations causing retinitis pigmentosa. Clin Genet 84:132\u2013141. doi: 10.1111\/cge.12203","journal-title":"Clin Genet"},{"key":"3358_CR6","doi-asserted-by":"publisher","first-page":"112","DOI":"10.12998\/wjcc.v3.i2.112","volume":"3","author":"OF Chacon-Camacho","year":"2015","unstructured":"Chacon-Camacho OF, Zenteno JC (2015) Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases 3:112\u2013124. doi: 10.12998\/wjcc.v3.i2.112","journal-title":"World J Clin Cases"},{"key":"3358_CR7","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248\u2013249. doi: 10.1038\/nmeth0410-248","journal-title":"Nat Methods"},{"key":"3358_CR8","doi-asserted-by":"publisher","first-page":"2744","DOI":"10.1093\/bioinformatics\/btp528","volume":"25","author":"B Li","year":"2009","unstructured":"Li B, Krishnan VG, Mort ME, Xin F, Kamati KK, Cooper DN, Mooney SD, Radivojac P (2009) Automated inference of molecular mechanisms of disease from amino acid substitutions. Bioinformatics 25:2744\u20132750. doi: 10.1093\/bioinformatics\/btp528","journal-title":"Bioinformatics"},{"key":"3358_CR9","doi-asserted-by":"publisher","first-page":"1237","DOI":"10.1002\/humu.21047","volume":"30","author":"R Calabrese","year":"2009","unstructured":"Calabrese R, Capriotti E, Fariselli P, Martelli PL, Casadio R (2009) Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat 30:1237\u20131244. doi: 10.1002\/humu.21047","journal-title":"Hum Mutat"},{"key":"3358_CR10","doi-asserted-by":"publisher","first-page":"e46688","DOI":"10.1371\/journal.pone.0046688","volume":"7","author":"Y Choi","year":"2012","unstructured":"Choi Y, Sims GE, Murphy S, Miller JR, Chan AP (2012) Predicting the functional effect of amino acid substitutions and indels. PLoS One 7:e46688. doi: 10.1371\/journal.pone.0046688","journal-title":"PLoS One"},{"key":"3358_CR11","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073\u201381. doi: 10.1038\/nprot.2009.86","journal-title":"Nat Protoc"},{"key":"3358_CR12","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"JM Schwarz","year":"2014","unstructured":"Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361\u20132. doi: 10.1038\/nmeth.2890","journal-title":"Nat Methods"},{"key":"3358_CR13","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1007\/s004390100505","volume":"109","author":"JT Dunnen den","year":"2001","unstructured":"den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121\u2013124","journal-title":"Hum Genet"},{"key":"3358_CR14","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981","author":"JT Dunnen den","year":"2016","unstructured":"den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE, Human Genome Variation Society (HGVS), the Human Variome Project (HVP) and the Human Genome Organisation (HUGO) (2016) HGVS Recommendations for the Description of Sequence Variants: 2016 Update. Hum Mutat. doi: 10.1002\/humu.22981","journal-title":"Hum Mutat"},{"key":"3358_CR15","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1006\/jmbi.2000.4042","volume":"302","author":"C Notredame","year":"2000","unstructured":"Notredame C, Higgins DG, Heringa J (2000) T-Coffee: A novel method for fast and accurate multiple sequence alignment. J Mol Biol 302:205\u201317","journal-title":"J Mol Biol"},{"key":"3358_CR16","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1080\/02713680902859639","volume":"34","author":"J Tosi","year":"2009","unstructured":"Tosi J, Tsui I, Lima L, Wang NK, Tsang SH (2009) Case report: autofluorescence imaging and phenotypic variance in a sibling pair with early onset retinal dystrophy due to defective CRB1 function. Curr Eye Res 34:395\u2013400. doi: 10.1080\/02713680902859639","journal-title":"Curr Eye Res"},{"key":"3358_CR17","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1016\/j.ajo.2014.05.028","volume":"158","author":"MT Andreoli","year":"2014","unstructured":"Andreoli MT, Lim JI (2014) Optical coherence tomography retinal thickness and volume measurements in X-linked retinoschisis. Am J Ophthalmol 158:567\u2013573.e2. doi: 10.1016\/j.ajo.2014.05.028","journal-title":"Am J Ophthalmol"},{"key":"3358_CR18","first-page":"228","volume":"70","author":"B Kousal","year":"2014","unstructured":"Kousal B, Zahlava J, Vejvalkova S, Hejtmankova M, Liskova P (2014) The molecular genetic and clinical findings in two probands with Stargardt disease. Cesk Slov Oftalmol 70:228\u2013233","journal-title":"Cesk Slov Oftalmol"},{"key":"3358_CR19","doi-asserted-by":"publisher","first-page":"165","DOI":"10.3109\/13816810.2011.565397","volume":"32","author":"TR Burke","year":"2011","unstructured":"Burke TR, Tsang SH (2011) Allelic and phenotypic heterogeneity in ABCA4 mutations. Ophthalmic Genet 32:165\u2013174. doi: 10.3109\/13816810.2011.565397","journal-title":"Ophthalmic Genet"},{"key":"3358_CR20","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1016\/j.ajo.2009.11.029","volume":"149","author":"MA Sohrab","year":"2010","unstructured":"Sohrab MA, Allikmets R, Guarnaccia MM, Smith RT (2010) Preimplantation genetic diagnosis for stargardt disease. Am J Ophthalmol 149:651\u2013655.e2. doi: 10.1016\/j.ajo.2009.11.029","journal-title":"Am J Ophthalmol"},{"key":"3358_CR21","doi-asserted-by":"publisher","first-page":"5684","DOI":"10.1167\/iovs.07-0207","volume":"48","author":"RH Henderson","year":"2007","unstructured":"Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT (2007) An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Invest Ophthalmol Vis Sci 48:5684\u20135689. doi: 10.1167\/iovs.07-0207","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"3358_CR22","doi-asserted-by":"publisher","first-page":"257","DOI":"10.3109\/13816810.2014.881505","volume":"36","author":"JA Cordovez","year":"2014","unstructured":"Cordovez JA, Traboulsi EI, Capasso JE, Sadagopan KA, Ganesh A, Rychwalski PJ, Neely KA, Brodie SE, Levin AV (2014) Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) gene. Ophthalmic Genet 36:257\u2013264. doi: 10.3109\/13816810.2014.881505","journal-title":"Ophthalmic Genet"},{"key":"3358_CR23","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1136\/bjo.2010.186882","volume":"95","author":"RH Henderson","year":"2011","unstructured":"Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT (2011) Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1. Br J Ophthalmol 95:811\u2013817. doi: 10.1136\/bjo.2010.186882","journal-title":"Br J Ophthalmol"},{"key":"3358_CR24","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1093\/hmg\/ddg117","volume":"12","author":"SG Jacobson","year":"2003","unstructured":"Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, Smilko EE, Milam AH, Sheffield VC, Stone EM (2003) Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. Hum Mol Genet 12:1073\u20131078","journal-title":"Hum Mol Genet"}],"container-title":["Graefe's Archive for Clinical and Experimental Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-016-3358-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00417-016-3358-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00417-016-3358-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T15:40:59Z","timestamp":1559058059000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00417-016-3358-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,25]]},"references-count":24,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["3358"],"URL":"https:\/\/doi.org\/10.1007\/s00417-016-3358-2","relation":{},"ISSN":["0721-832X","1435-702X"],"issn-type":[{"value":"0721-832X","type":"print"},{"value":"1435-702X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,25]]}}}