{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T14:08:15Z","timestamp":1793282895468,"version":"4.5.0"},"reference-count":57,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,4,1]],"date-time":"2018-04-01T00:00:00Z","timestamp":1522540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2018,10,5]],"date-time":"2018-10-05T00:00:00Z","timestamp":1538697600000},"content-version":"vor","delay-in-days":187,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100010330","name":"Stichting Retina Fonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010330","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010318","name":"Landelijke Stichting voor Blinden en Slechtzienden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010318","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001116","name":"Foundation Fighting Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001116","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010326","name":"Stichting A.F. Deutman Oogheelkunde Researchfonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010326","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010377","name":"Stichting tot Verbetering van het Lot der Blinden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010377","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010374","name":"Stichting Blindenhulp","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010374","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010302","name":"Algemene Nederlandse Vereniging ter voorkoming van Blindheid","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010302","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010373","name":"Stichting Blinden-Penning","doi-asserted-by":"publisher","award":["2016-12"],"award-info":[{"award-number":["2016-12"]}],"id":[{"id":"10.13039\/501100010373","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007044","name":"Macula Vision Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007044","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010372","name":"Rotterdamse Stichting Blindenbelangen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010372","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2018,4]]},"DOI":"10.1016\/j.ajhg.2018.02.008","type":"journal-article","created":{"date-parts":[[2018,3,8]],"date-time":"2018-03-08T12:37:00Z","timestamp":1520512620000},"page":"517-527","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":123,"title":["Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease"],"prefix":"10.1016","volume":"102","author":[{"given":"Silvia","family":"Albert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Garanto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Sangermano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mubeen","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie M.","family":"Bax","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carel B.","family":"Hoyng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Zernant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winston","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rando","family":"Allikmets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob W.J.","family":"Collin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans P.M.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2018.02.008_bib1","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1001\/archopht.117.4.504","article-title":"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene","volume":"117","author":"Fishman","year":"1999","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.ajhg.2018.02.008_bib2","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1007\/BF01961301","article-title":"\u00dcber famili\u00e4re, progressive Degeneration in der Maculagegend des Auges","volume":"71","author":"Stargardt","year":"1909","journal-title":"Graefes Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.ajhg.2018.02.008_bib3","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/ng0397-236","article-title":"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy","volume":"15","author":"Allikmets","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib4","doi-asserted-by":"crossref","first-page":"6797","DOI":"10.1093\/hmg\/ddu396","article-title":"Analysis of the ABCA4 genomic locus in Stargardt disease","volume":"23","author":"Zernant","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib5","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1007\/0-387-32442-9_64","article-title":"Binding of N-retinylidene-PE to ABCA4 and a model for its transport across membranes","volume":"572","author":"Molday","year":"2006","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.ajhg.2018.02.008_bib6","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1093\/hmg\/7.3.355","article-title":"Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt\u2019s disease gene ABCR","volume":"7","author":"Cremers","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib7","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1086\/303079","article-title":"Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy","volume":"67","author":"Maugeri","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib8","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0198-11","article-title":"Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR","volume":"18","author":"Mart\u00ednez-Mir","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib9","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/S0002-9394(01)00838-8","article-title":"Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease?","volume":"131","author":"Shroyer","year":"2001","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.ajhg.2018.02.008_bib10","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/j.ophtha.2014.08.017","article-title":"Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull\u2019s-eye maculopathy","volume":"122","author":"Duncker","year":"2015","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajhg.2018.02.008_bib11","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1086\/302251","article-title":"Genotype\/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease","volume":"64","author":"Lewis","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib12","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1086\/302323","article-title":"The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease","volume":"64","author":"Maugeri","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib13","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1086\/303090","article-title":"A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration","volume":"67","author":"Rivera","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib14","first-page":"1179","article-title":"An analysis of allelic variation in the ABCA4 gene","volume":"42","author":"Webster","year":"2001","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2018.02.008_bib15","doi-asserted-by":"crossref","first-page":"8479","DOI":"10.1167\/iovs.11-8182","article-title":"Analysis of the ABCA4 gene by next-generation\u00a0sequencing","volume":"52","author":"Zernant","year":"2011","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2018.02.008_bib16","doi-asserted-by":"crossref","first-page":"6662","DOI":"10.1167\/iovs.13-12570","article-title":"ABCA4 gene screening by next-generation sequencing in a British cohort","volume":"54","author":"Fujinami","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2018.02.008_bib17","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1167\/iovs.16-19936","article-title":"Mutation spectrum of the ABCA4 gene in 335 Stargardt disease patients from a multicenter German cohort-impact of selected deep intronic variants and common SNPs","volume":"58","author":"Schulz","year":"2017","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2018.02.008_bib18","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1136\/jmedgenet-2017-104540","article-title":"Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration","volume":"54","author":"Zernant","year":"2017","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib19","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1076\/opge.19.3.117.2187","article-title":"ABCR unites what ophthalmologists divide(s)","volume":"19","author":"van Driel","year":"1998","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib20","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1002\/humu.22716","article-title":"An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients","volume":"36","author":"Bauwens","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.02.008_bib21","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/humu.22717","article-title":"Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant","volume":"36","author":"Bax","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.02.008_bib22","doi-asserted-by":"crossref","first-page":"5136","DOI":"10.1093\/hmg\/ddt367","article-title":"Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease","volume":"22","author":"Braun","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib23","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s00439-015-1605-y","article-title":"Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes","volume":"135","author":"Lee","year":"2016","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib24","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.tig.2011.02.004","article-title":"Genetic therapies for RNA mis-splicing diseases","volume":"27","author":"Hammond","year":"2011","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib25","doi-asserted-by":"crossref","first-page":"e14","DOI":"10.1038\/mtna.2012.3","article-title":"Antisense oligonucleotide (AON)-based therapy for Leber congenital amaurosis caused by a frequent mutation in CEP290","volume":"1","author":"Collin","year":"2012","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ajhg.2018.02.008_bib26","first-page":"2552","article-title":"In\u00a0vitro and in\u00a0vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery","volume":"25","author":"Garanto","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib27","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1038\/mtna.2012.21","article-title":"AON-mediated exon skipping restores ciliation in fibroblasts harboring the common Leber congenital amaurosis CEP290 mutation","volume":"1","author":"Gerard","year":"2012","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ajhg.2018.02.008_bib28","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1016\/j.stem.2016.03.021","article-title":"Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups","volume":"18","author":"Parfitt","year":"2016","journal-title":"Cell Stem Cell"},{"key":"10.1016\/j.ajhg.2018.02.008_bib29","doi-asserted-by":"crossref","first-page":"e381","DOI":"10.1038\/mtna.2016.89","article-title":"Antisense oligonucleotide-based splice correction for USH2A-associated retinal degeneration caused by a frequent deep-intronic mutation","volume":"5","author":"Slijkerman","year":"2016","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ajhg.2018.02.008_bib30","doi-asserted-by":"crossref","first-page":"e390","DOI":"10.1038\/mtna.2016.93","article-title":"Antisense oligonucleotide mediated splice correction of a deep intronic mutation in OPA1","volume":"5","author":"Bonifert","year":"2016","journal-title":"Mol. Ther. Nucleic Acids"},{"key":"10.1016\/j.ajhg.2018.02.008_bib31","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.ophtha.2016.01.053","article-title":"Photoreceptor progenitor mRNA analysis reveals exon skipping resulting from the ABCA4 c.5461-10T\u2192C mutation in Stargardt disease","volume":"123","author":"Sangermano","year":"2016","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ajhg.2018.02.008_bib32","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.cell.2006.07.024","article-title":"Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors","volume":"126","author":"Takahashi","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2018.02.008_bib33","first-page":"e1870","article-title":"Differentiation of human embryonic stem cells into cone photoreceptors","volume":"6","author":"Flamier","year":"2016","journal-title":"Bio Protoc."},{"key":"10.1016\/j.ajhg.2018.02.008_bib34","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/978-1-61779-767-5_8","article-title":"Overview on AON design","volume":"867","author":"Aartsma-Rus","year":"2012","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2018.02.008_bib35","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/978-1-4939-7522-8_5","article-title":"Design and in\u00a0vitro use of antisense oligonucleotides to correct pre-mRNA splicing defects in inherited retinal dystrophies","volume":"1715","author":"Garanto","year":"2018","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2018.02.008_bib36","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1038\/nmeth.2019","article-title":"Fiji: an open-source platform for biological-image analysis","volume":"9","author":"Schindelin","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2018.02.008_bib37","doi-asserted-by":"crossref","first-page":"e1006256","DOI":"10.1371\/journal.pgen.1006256","article-title":"The Musashi 1 controls the splicing of photoreceptor-specific exons in the vertebrate retina","volume":"12","author":"Murphy","year":"2016","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib38","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1006\/geno.1997.5164","article-title":"Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease","volume":"48","author":"Gerber","year":"1998","journal-title":"Genomics"},{"key":"10.1016\/j.ajhg.2018.02.008_bib39","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1002\/stem.674","article-title":"Optic vesicle-like structures derived from human pluripotent stem cells facilitate a customized approach to retinal disease treatment","volume":"29","author":"Meyer","year":"2011","journal-title":"Stem Cells"},{"key":"10.1016\/j.ajhg.2018.02.008_bib40","doi-asserted-by":"crossref","first-page":"e00824","DOI":"10.7554\/eLife.00824","article-title":"Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa","volume":"2","author":"Tucker","year":"2013","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2018.02.008_bib41","doi-asserted-by":"crossref","first-page":"4047","DOI":"10.1038\/ncomms5047","article-title":"Generation of three-dimensional retinal tissue with functional photoreceptors from human iPSCs","volume":"5","author":"Zhong","year":"2014","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2018.02.008_bib42","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1086\/507318","article-title":"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis","volume":"79","author":"den Hollander","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib43","doi-asserted-by":"crossref","first-page":"3647","DOI":"10.1093\/hmg\/dds194","article-title":"Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)","volume":"21","author":"Webb","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib44","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1007\/s00439-003-0970-0","article-title":"Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon","volume":"113","author":"van den Hurk","year":"2003","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib45","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/humu.21634","article-title":"Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy","volume":"33","author":"Vach\u00e9","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.02.008_bib46","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1002\/humu.21071","article-title":"A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance","volume":"30","author":"Rio Frio","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.02.008_bib47","doi-asserted-by":"crossref","first-page":"11334","DOI":"10.1038\/srep11334","article-title":"Deep intronic GPR143 mutation in a Japanese family with ocular albinism","volume":"5","author":"Naruto","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2018.02.008_bib48","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ejhg.2015.144","article-title":"Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation","volume":"24","author":"Mayer","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib49","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/humu.22926","article-title":"Whole USH2A gene sequencing identifies several new deep intronic mutations","volume":"37","author":"Liquori","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.02.008_bib50","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.ajhg.2016.12.003","article-title":"Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease","volume":"100","author":"Carss","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib51","first-page":"1354","article-title":"Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants","volume":"35","author":"Gardner","year":"2014","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2018.02.008_bib52","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.bbrc.2012.06.094","article-title":"Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect","volume":"424","author":"Ueyama","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ajhg.2018.02.008_bib53","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ajhg.2010.05.019","article-title":"X-linked cone dystrophy caused by mutation of the red and green cone opsins","volume":"87","author":"Gardner","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2018.02.008_bib54","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1101\/gr.226621.117","article-title":"ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease","volume":"28","author":"Sangermano","year":"2018","journal-title":"Genome Res."},{"key":"10.1016\/j.ajhg.2018.02.008_bib55","doi-asserted-by":"crossref","first-page":"e250","DOI":"10.1038\/mtna.2015.24","article-title":"Intravitreal injection of splice-switching oligonucleotides to manipulate splicing in retinal cells","volume":"4","author":"G\u00e9rard","year":"2015","journal-title":"Mol. Ther.\u00a0Nucleic Acids"},{"key":"10.1016\/j.ajhg.2018.02.008_bib56","doi-asserted-by":"crossref","first-page":"6362","DOI":"10.1167\/iovs.15-16400","article-title":"Allele-specific inhibition of rhodopsin with an antisense oligonucleotide slows photoreceptor cell degeneration","volume":"56","author":"Murray","year":"2015","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2018.02.008_bib57","first-page":"14","article-title":"Fomivirsen approved for CMV retinitis","volume":"4","author":"Roehr","year":"1998","journal-title":"J.\u00a0Int. Assoc. Physicians AIDS Care"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718300533?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929718300533?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T10:17:56Z","timestamp":1762078676000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929718300533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,4]]},"references-count":57,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["S0002929718300533"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.02.008","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2018,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2018.02.008","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}