{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T03:10:28Z","timestamp":1789787428877,"version":"4.0.1"},"reference-count":174,"publisher":"Elsevier BV","issue":"11-12","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100000739","name":"University of Southampton","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000739","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms"],"published-print":{"date-parts":[[2019,11]]},"DOI":"10.1016\/j.bbagrm.2019.194433","type":"journal-article","created":{"date-parts":[[2019,11,4]],"date-time":"2019-11-04T20:08:14Z","timestamp":1572898094000},"page":"194433","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"title":["Splicing in the pathogenesis, diagnosis and treatment of ciliopathies"],"prefix":"10.1016","volume":"1862","author":[{"given":"Gabrielle","family":"Wheway","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Lord","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Baralle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbagrm.2019.194433_bb0005","doi-asserted-by":"crossref","first-page":"8","DOI":"10.3389\/fcell.2018.00008","article-title":"Signaling through the primary cilium","volume":"6","author":"Wheway","year":"2018","journal-title":"Frontiers in cell and developmental biology"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0010","doi-asserted-by":"crossref","first-page":"69","DOI":"10.4161\/org.26710","article-title":"The role of primary cilia in the development and disease of the retina","volume":"10","author":"Wheway","year":"2014","journal-title":"Organogenesis"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0015","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/path.4843","article-title":"Motile and non-motile cilia in human pathology: from function to phenotypes","volume":"241","author":"Mitchison","year":"2017","journal-title":"J. Pathol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0020","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1007\/s00467-010-1731-7","article-title":"Ciliopathies: an expanding disease spectrum","volume":"26","author":"Waters","year":"2011","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0025","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1136\/archdischild-2013-304831","article-title":"Diagnosis and management of primary ciliary dyskinesia","volume":"99","author":"Lucas","year":"2014","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0030","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1016\/S0140-6736(18)32782-X","article-title":"Autosomal dominant polycystic kidney disease","volume":"393","author":"Cornec-Le Gall","year":"2019","journal-title":"Lancet"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0035","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1093\/ndt\/gfw240","article-title":"Prevalence of autosomal dominant polycystic kidney disease in the European Union","volume":"32","author":"Willey","year":"2017","journal-title":"Nephrol. Dial. Transplant."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0040","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0959-437X(00)00195-7","article-title":"Molecular genetics and prospects for therapy of the inherited retinal dystrophies","volume":"11","author":"Bessant","year":"2001","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0045","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","article-title":"Retinitis pigmentosa","volume":"368","author":"Hartong","year":"2006","journal-title":"Lancet"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0050","doi-asserted-by":"crossref","first-page":"R111","DOI":"10.1093\/hmg\/dds298","article-title":"Non-syndromic retinal ciliopathies: translating gene discovery into therapy","volume":"21","author":"Estrada-Cuzcano","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0055","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/j.chest.2018.05.007","article-title":"Advances in the genetics of primary ciliary dyskinesia: clinical implications","volume":"154","author":"Horani","year":"2018","journal-title":"Chest"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0060","series-title":"Mouse Models of Developmental Genetic Disease","article-title":"Modeling ciliopathies: primary cilia in development and disease","author":"Quinlan","year":"2008"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0065","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a003707","article-title":"Spliceosome structure and function","volume":"3","author":"Will","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0070","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1038\/ng.259","article-title":"Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing","volume":"40","author":"Pan","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0075","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1038\/nature07509","article-title":"Alternative isoform regulation in human tissue transcriptomes","volume":"456","author":"Wang","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0080","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.216465","article-title":"How alternative splicing affects membrane-trafficking dynamics","volume":"131","author":"Blue","year":"2018","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0085","doi-asserted-by":"crossref","DOI":"10.1242\/jcs.230201","article-title":"Genome-wide identification of alternative splicing events that regulate protein transport across the secretory pathway","volume":"132","author":"Neumann","year":"2019","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0090","doi-asserted-by":"crossref","first-page":"17224","DOI":"10.1073\/pnas.1413624111","article-title":"Comparison of the transcriptional landscapes between human and mouse tissues","volume":"111","author":"Lin","year":"2014","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0095","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1038\/s41586-019-1338-5","article-title":"Gene expression across mammalian organ development","volume":"571","author":"Cardoso-Moreira","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0100","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1016\/j.tig.2013.04.003","article-title":"Alternative pre-mRNA splicing in neurons: growing up and extending its reach","volume":"29","author":"Zheng","year":"2013","journal-title":"Trends Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0105","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.neuron.2015.05.004","article-title":"Alternative splicing in the mammalian nervous system: recent insights into mechanisms and functional roles","volume":"87","author":"Raj","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0110","doi-asserted-by":"crossref","DOI":"10.1242\/dev.169474","article-title":"An integrated transcriptional analysis of the developing human retina","volume":"146","author":"Mellough","year":"2019","journal-title":"Development"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0115","doi-asserted-by":"crossref","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.bbagrm.2019.194433_bb0120","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.devcel.2017.10.029","article-title":"Molecular anatomy of the developing human retina","volume":"43","author":"Hoshino","year":"2017","journal-title":"Dev. Cell"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0125","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1186\/1471-2164-14-486","article-title":"Transcriptome analyses of the human retina identify unprecedented transcript diversity and 3.5\u202fMb of novel transcribed sequence via significant alternative splicing and novel genes","volume":"14","author":"Farkas","year":"2013","journal-title":"BMC Genomics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0130","doi-asserted-by":"crossref","first-page":"5773","DOI":"10.1093\/nar\/gkw486","article-title":"An atlas of gene expression and gene co-regulation in the human retina","volume":"44","author":"Pinelli","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0135","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.ygeno.2015.01.008","article-title":"Transcriptome of the human retina, retinal pigmented epithelium and choroid","volume":"105","author":"Tian","year":"2015","journal-title":"Genomics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0140","doi-asserted-by":"crossref","first-page":"4001","DOI":"10.1093\/hmg\/ddu114","article-title":"Comprehensive analysis of gene expression in human retina and supporting tissues","volume":"23","author":"Li","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0145","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.exer.2014.11.001","article-title":"Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE\/choroid by RNA-Seq","volume":"129","author":"Whitmore","year":"2014","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0150","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1126\/science.aaa0355","article-title":"The human transcriptome across tissues and individuals","volume":"348","author":"Mel\u00e9","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0155","doi-asserted-by":"crossref","first-page":"e10","DOI":"10.1371\/journal.pcbi.0010010","article-title":"Extraction of transcript diversity from scientific literature","volume":"1","author":"Shah","year":"2005","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0160","doi-asserted-by":"crossref","first-page":"28400","DOI":"10.1038\/srep28400","article-title":"Identification of tissue-specific protein-coding and noncoding transcripts across 14 human tissues using RNA-seq","volume":"6","author":"Zhu","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0165","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","volume":"45","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0170","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000884","article-title":"Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform","volume":"6","author":"Pretorius","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0175","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/j.ajhg.2016.07.010","article-title":"Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78, cause cone-rod degeneration with sensorineural hearing loss","volume":"99","author":"Namburi","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0180","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1167\/iovs.04-1286","article-title":"Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization","volume":"46","author":"Lu","year":"2005","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0185","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.ajhg.2010.04.001","article-title":"A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa","volume":"86","author":"Riazuddin","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0190","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1128\/MCB.00040-15","article-title":"Alternative splicing shapes the phenotype of a mutation in BBS8 to cause nonsyndromic retinitis pigmentosa","volume":"35","author":"Murphy","year":"2015","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0195","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0148773","article-title":"A splice variant of Bardet-Biedl Syndrome 5 (BBS5) protein that is selectively expressed in retina","volume":"11","author":"Bolch","year":"2016","journal-title":"PLoS One"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0200","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.exer.2015.06.007","article-title":"RPGR: its role in photoreceptor physiology, human disease, and future therapies","volume":"138","author":"Megaw","year":"2015","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0205","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1093\/hmg\/ddp469","article-title":"Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development","volume":"19","author":"Ghosh","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0210","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1038\/78182","article-title":"Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa","volume":"25","author":"Vervoort","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0215","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1093\/hmg\/8.8.1571","article-title":"RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa","volume":"8","author":"Kirschner","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0220","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1086\/515523","article-title":"Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families","volume":"61","author":"Fujita","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0225","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1002\/humu.1160","article-title":"Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains","volume":"18","author":"Miano","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0230","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q","article-title":"Identification of a 5\u2032 splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)","volume":"13","author":"Dry","year":"1999","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0235","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1006\/geno.2002.6815","article-title":"X-linked recessive atrophic macular degeneration from RPGR mutation","volume":"80","author":"Ayyagari","year":"2002","journal-title":"Genomics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0240","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":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0245","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1038\/ncb3201","article-title":"An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes","volume":"17","author":"Wheway","year":"2015","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0250","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1016\/j.bbamcr.2016.03.021","article-title":"Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation","volume":"1863","author":"Kim","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0255","doi-asserted-by":"crossref","first-page":"4234","DOI":"10.1038\/s41467-018-06448-y","article-title":"Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa","volume":"9","author":"Buskin","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0260","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.ajhg.2013.07.012","article-title":"Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome","volume":"93","author":"Shamseldin","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0265","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ejmg.2017.07.009","article-title":"Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: further delineation of the DDX59 phenotype in two new families","volume":"60","author":"Faily","year":"2017","journal-title":"European journal of medical genetics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0270","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1002\/humu.23368","article-title":"A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function","volume":"39","author":"Salpietro","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0275","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1093\/nar\/gkl468","article-title":"Dead-box proteins: a family affair\u2014active and passive players in RNP-remodeling","volume":"34","author":"Linder","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0280","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/978-1-60327-475-3_22","article-title":"Duplex unwinding and RNP remodeling with RNA helicases","volume":"488","author":"Jankowsky","year":"2008","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0285","doi-asserted-by":"crossref","first-page":"4181","DOI":"10.1093\/nar\/gkl410","article-title":"Remodeling of ribonucleoprotein complexes with DExH\/D RNA helicases","volume":"34","author":"Jankowsky","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0290","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/S0888-7543(03)00049-1","article-title":"The human DDX and DHX gene families of putative RNA helicases","volume":"81","author":"Abdelhaleem","year":"2003","journal-title":"Genomics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0295","doi-asserted-by":"crossref","first-page":"968","DOI":"10.4161\/rna.8.6.17606","article-title":"RNA splicing control: yet another gene regulatory role for long nuclear noncoding RNAs","volume":"8","author":"Zong","year":"2011","journal-title":"RNA Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0300","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev-biochem-060614-034316","article-title":"Mechanisms and regulation of alternative pre-mRNA splicing","volume":"84","author":"Lee","year":"2015","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0305","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1038\/nsmb.2327","article-title":"Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo","volume":"19","author":"Taggart","year":"2012","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0310","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/324280a0","article-title":"The role of nucleotide sequences in splice site selection in eukaryotic pre-messenger RNA","volume":"324","author":"Eperon","year":"1986","journal-title":"Nature"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0315","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1038\/nsmb.2377","article-title":"Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules","volume":"19","author":"Wang","year":"2012","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0320","doi-asserted-by":"crossref","first-page":"R20","DOI":"10.1186\/gb-2010-11-2-r20","article-title":"Genomic features defining exonic variants that modulate splicing","volume":"11","author":"Woolfe","year":"2010","journal-title":"Genome Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0325","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1016\/j.cell.2008.10.046","article-title":"Dynamic regulation of alternative splicing by silencers that modulate 5\u2032 splice site competition","volume":"135","author":"Yu","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0330","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1042\/CS20160211","article-title":"RNA splicing in human disease and in the clinic","volume":"131","author":"Baralle","year":"2017","journal-title":"Clinical science (London, England: 1979)"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0335","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s13353-018-0444-7","article-title":"Splicing mutations in human genetic disorders: examples, detection, and confirmation","volume":"59","author":"Anna","year":"2018","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0340","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1002\/humu.9496","article-title":"Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber Syndrome","volume":"28","author":"Frank","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0345","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.ajhg.2013.07.013","article-title":"Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects","volume":"93","author":"Kott","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0350","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1038\/ng1714","article-title":"MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome","volume":"38","author":"Kyttala","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0355","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1164\/rccm.201311-2047OC","article-title":"Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype","volume":"189","author":"Knowles","year":"2014","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0360","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/ng.97","article-title":"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome","volume":"40","author":"Leitch","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0365","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ajhg.2012.11.002","article-title":"Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia","volume":"92","author":"Onoufriadis","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0370","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajhg.2015.09.009","article-title":"Joubert syndrome in French Canadians and identification of mutations in CEP104","volume":"97","author":"Srour","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0375","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.ajhg.2011.11.005","article-title":"TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone","volume":"89","author":"Huang","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0380","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.ajhg.2013.11.015","article-title":"Mutations in CSPP1 lead to classical Joubert syndrome","volume":"94","author":"Akizu","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0385","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.ajhg.2013.11.010","article-title":"Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans","volume":"94","author":"Shaheen","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0390","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ajhg.2013.11.019","article-title":"Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy","volume":"94","author":"Tuz","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0395","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.22261","article-title":"Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms","volume":"34","author":"Antony","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0400","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2012.08.016","article-title":"Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry","volume":"91","author":"Olbrich","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0405","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ajhg.2008.10.001","article-title":"DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm","volume":"83","author":"Loges","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0410","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1038\/s10038-018-0532-x","article-title":"Clinical spectrum of male patients with OFD1 mutations","volume":"64","author":"Sakakibara","year":"2019","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0415","doi-asserted-by":"crossref","first-page":"4032543","DOI":"10.1155\/2018\/4032543","article-title":"Diagnosis of Joubert syndrome 10 in a fetus with suspected Dandy-Walker variant by WES: a novel splicing mutation in OFD1","volume":"2018","author":"Linpeng","year":"2018","journal-title":"Biomed. Res. Int."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0420","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1038\/ejhg.2014.160","article-title":"Tectonic gene mutations in patients with Joubert syndrome","volume":"23","author":"Huppke","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0430","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.ajhg.2011.11.015","article-title":"Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement","volume":"90","author":"Estrada-Cuzcano","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0435","first-page":"68","article-title":"Novel C8orf37 mutations in patients with early-onset retinal dystrophy, macular atrophy, cataracts, and high myopia","volume":"37","author":"Katagiri","year":"2016","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0440","doi-asserted-by":"crossref","first-page":"294","DOI":"10.3109\/13816810.2015.1071408","article-title":"A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy","volume":"37","author":"Rahner","year":"2016","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0445","first-page":"236","article-title":"Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin","volume":"21","author":"Ravesh","year":"2015","journal-title":"Mol. Vis."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0450","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1038\/s41431-018-0222-3","article-title":"Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants","volume":"26","author":"Boczek","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0455","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1038\/ng1805","article-title":"Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome","volume":"38","author":"Valente","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0460","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/ng935","article-title":"Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome","volume":"31","author":"Mykytyn","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0465","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.bbagrm.2019.194433_bb0470","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1002\/humu.21337","article-title":"CEP290, a gene with many faces: mutation overview and presentation of CEP290base","volume":"31","author":"Coppieters","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0475","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.ophtha.2017.12.013","article-title":"Leber congenital amaurosis associated with mutations in CEP290, clinical phenotype, and natural history in preparation for trials of novel therapies","volume":"125","author":"Sheck","year":"2018","journal-title":"Ophthalmology"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0480","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/humu.9485","article-title":"Spectrum of NPHP6\/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype","volume":"28","author":"Perrault","year":"2007","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0485","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.bbagrm.2019.194433_bb0490","doi-asserted-by":"crossref","DOI":"10.1038\/mtna.2016.89","article-title":"Antisense oligonucleotide-based splice correction for <em>USH2A<\/em>-associated retinal degeneration caused by a frequent deep-intronic mutation","volume":"5","author":"Slijkerman","year":"2016","journal-title":"Molecular Therapy - Nucleic Acids"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0495","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.bbagrm.2019.194433_bb0500","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.exer.2004.03.005","article-title":"Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa","volume":"79","author":"Seyedahmadi","year":"2004","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0505","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1136\/jmg.2009.075143","article-title":"Novel mutations in the long isoform of the <em>USH2A<\/em> gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa","volume":"47","author":"McGee","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0510","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1111\/j.1399-0004.2007.00880.x","article-title":"A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome","volume":"72","author":"Auber","year":"2007","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0515","doi-asserted-by":"crossref","DOI":"10.1186\/2046-2530-1-18","article-title":"Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies","author":"Szymanska","year":"2012","journal-title":"Cilia"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0520","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/bjo.2007.131110","article-title":"A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands","volume":"93","author":"Hjortshoj","year":"2009","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0525","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1111\/j.1399-0004.2010.01481.x","article-title":"A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders","volume":"78","author":"Innes","year":"2010","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0530","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1002\/humu.22371","article-title":"Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia","volume":"34","author":"Daniels","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0535","doi-asserted-by":"crossref","first-page":"858","DOI":"10.1164\/rccm.200603-370OC","article-title":"Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation","volume":"174","author":"Zariwala","year":"2006","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0540","doi-asserted-by":"crossref","first-page":"E569","DOI":"10.1073\/pnas.1108918108","article-title":"Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa","volume":"108","author":"Tucker","year":"2011","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0545","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1038\/s41431-018-0212-5","article-title":"Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants","volume":"26","author":"Molinari","year":"2018","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0550","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1186\/s13059-016-1099-5","article-title":"Characterizing the morbid genome of ciliopathies","volume":"17","author":"Shaheen","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0555","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1513\/AnnalsATS.201306-194OC","article-title":"The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia","volume":"11","author":"Kim","year":"2014","journal-title":"Annals of the American Thoracic Society"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0560","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/humu.23403","article-title":"Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients","volume":"39","author":"Paff","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0565","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s12881-015-0265-z","article-title":"Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping","volume":"17","author":"Watson","year":"2016","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0570","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1136\/jmedgenet-2015-103087","article-title":"Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity","volume":"52","author":"Bachmann-Gagescu","year":"2015","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0575","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF00210743","article-title":"The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences","volume":"90","author":"Krawczak","year":"1992","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0580","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","article-title":"The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies","volume":"136","author":"Stenson","year":"2017","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0585","doi-asserted-by":"crossref","first-page":"11093","DOI":"10.1073\/pnas.1101135108","article-title":"Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes","volume":"108","author":"Lim","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0590","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1101\/gr.118638.110","article-title":"Loss of exon identity is a common mechanism of human inherited disease","volume":"21","author":"Sterne-Weiler","year":"2011","journal-title":"Genome Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0595","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1111\/cge.12198","article-title":"Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations","volume":"85","author":"Schaefer","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0600","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1136\/jmedgenet-2012-101431","article-title":"Mutations in TMEM231 cause Meckel-Gruber syndrome","volume":"50","author":"Shaheen","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0605","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1002\/humu.22101","article-title":"Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico\/in vitro studies on BRCA1 and BRCA2 variants","volume":"33","author":"Houdayer","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0620","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.bbagrm.2019.194433_bb0625","doi-asserted-by":"crossref","first-page":"2524","DOI":"10.1093\/hmg\/ddr151","article-title":"B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis","volume":"20","author":"Hopp","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0630","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmedgenet-2016-104166","article-title":"CEP78 is mutated in a distinct type of Usher syndrome","volume":"54","author":"Fu","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0635","doi-asserted-by":"crossref","first-page":"2268","DOI":"10.1111\/jcmm.13147","article-title":"Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients","volume":"21","author":"Alvarez-Satta","year":"2017","journal-title":"J. Cell. Mol. Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0640","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1093\/hmg\/ddu441","article-title":"Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome","volume":"24","author":"Bujakowska","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0645","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajhg.2010.04.012","article-title":"Cranioectodermal dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene","volume":"86","author":"Walczak-Sztulpa","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0650","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1186\/s13630-015-0017-x","article-title":"Non-invasive sources of cells with primary cilia from pediatric and adult patients","volume":"4","author":"Ajzenberg","year":"2015","journal-title":"Cilia"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0655","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1378\/chest.10-0175","article-title":"Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia","volume":"138","author":"Hirst","year":"2010","journal-title":"Chest"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0660","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0089675","article-title":"Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid","volume":"9","author":"Hirst","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0665","doi-asserted-by":"crossref","DOI":"10.1002\/cpsc.95","article-title":"Differentiation of retinal organoids from human pluripotent stem cells","volume":"50","author":"Chichagova","year":"2019","journal-title":"Curr Protoc Stem Cell Biol"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0670","doi-asserted-by":"crossref","first-page":"101491","DOI":"10.1016\/j.scr.2019.101491","article-title":"Accelerated photoreceptor differentiation of hiPSC-derived retinal organoids by contact co-culture with retinal pigment epithelium","volume":"39","author":"Akhtar","year":"2019","journal-title":"Stem Cell Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0675","doi-asserted-by":"crossref","first-page":"10824","DOI":"10.1073\/pnas.1901572116","article-title":"Generation, transcriptome profiling, and functional validation of cone-rich human retinal organoids","volume":"116","author":"Kim","year":"2019","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0680","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/stem.2963","article-title":"Deconstructing retinal organoids: single cell RNA-Seq reveals the cellular components of human pluripotent stem cell-derived retina","volume":"37","author":"Collin","year":"2019","journal-title":"Stem Cells"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0685","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/j.omtn.2018.07.010","article-title":"Splice-modulating oligonucleotide QR-110 restores CEP290 mRNA and function in human c.2991+1655A>G LCA10 models","volume":"12","author":"Dulla","year":"2018","journal-title":"Molecular therapy. Nucleic acids"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0690","doi-asserted-by":"crossref","first-page":"361","DOI":"10.3389\/fncel.2019.00361","article-title":"Modeling retinitis pigmentosa: retinal organoids generated from the iPSCs of a patient with the USH2A mutation show early developmental abnormalities","volume":"13","author":"Guo","year":"2019","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0695","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1186\/s12864-017-4002-1","article-title":"Evaluation and comparison of computational tools for RNA-seq isoform quantification","volume":"18","author":"Zhang","year":"2017","journal-title":"BMC Genomics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0700","doi-asserted-by":"crossref","first-page":"268","DOI":"10.2174\/1389202918666170215125048","article-title":"Comparison of alternative splicing junction detection tools using RNA-Seq data","volume":"18","author":"Ding","year":"2017","journal-title":"Current genomics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0705","doi-asserted-by":"crossref","DOI":"10.1093\/gigascience\/giy131","article-title":"Efficient and accurate detection of splice junctions from RNA-seq with portcullis","volume":"7","author":"Mapleson","year":"2018","journal-title":"Gigascience"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0710","first-page":"9","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","author":"Cummings","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0715","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1016\/j.ajhg.2019.04.004","article-title":"Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease","volume":"104","author":"Gonorazky","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0720","doi-asserted-by":"crossref","DOI":"10.1002\/0471250953.bi1114s51","article-title":"Mapping RNA-seq reads with STAR","volume":"51","author":"Dobin","year":"2015","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0725","doi-asserted-by":"crossref","first-page":"15824","DOI":"10.1038\/ncomms15824","article-title":"Genetic diagnosis of Mendelian disorders via RNA sequencing","volume":"8","author":"Kremer","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0730","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/s41588-017-0004-9","article-title":"Annotation-free quantification of RNA splicing using LeafCutter","volume":"50","author":"Li","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0740","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1097\/MAO.0000000000002054","article-title":"Genetics of Usher syndrome: new insights from a meta-analysis","volume":"40","author":"Jouret","year":"2019","journal-title":"Otology & neurotology"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0745","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1089\/hgtb.2015.140","article-title":"Expressing transgenes that exceed the packaging capacity of adeno-associated virus capsids","volume":"27","author":"Chamberlain","year":"2016","journal-title":"Human gene therapy methods"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0750","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.22931","article-title":"Correction of a cystic fibrosis splicing mutation by antisense oligonucleotides","volume":"37","author":"Igreja","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0755","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ana.24555","article-title":"Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy","volume":"79","author":"Mendell","year":"2016","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0760","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0765","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1089\/hum.2006.061","article-title":"Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle","volume":"18","author":"Arechavala-Gomeza","year":"2007","journal-title":"Hum. Gene Ther."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0770","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/S0140-6736(11)60756-3","article-title":"Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study","volume":"378","author":"Cirak","year":"2011","journal-title":"Lancet"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0775","doi-asserted-by":"crossref","first-page":"e2146","DOI":"10.1212\/WNL.0000000000005680","article-title":"Eteplirsen treatment for Duchenne muscular dystrophy: exon skipping and dystrophin production","volume":"90","author":"Charleston","year":"2018","journal-title":"Neurology"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0780","doi-asserted-by":"crossref","first-page":"213","DOI":"10.3233\/JND-180351","article-title":"Eteplirsen treatment attenuates respiratory decline in ambulatory and non-ambulatory patients with Duchenne muscular dystrophy","volume":"6","author":"Khan","year":"2019","journal-title":"Journal of neuromuscular diseases"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0785","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000015858","article-title":"Long-term treatment with eteplirsen in nonambulatory patients with Duchenne muscular dystrophy","volume":"98","author":"Alfano","year":"2019","journal-title":"Medicine (Baltimore)"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0790","doi-asserted-by":"crossref","first-page":"1634","DOI":"10.1101\/gad.1941310","article-title":"Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model","volume":"24","author":"Hua","year":"2010","journal-title":"Genes Dev."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0795","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.ajhg.2008.01.014","article-title":"Antisense masking of an hnRNP A1\/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice","volume":"82","author":"Hua","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0800","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0805","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus sham control in later-onset spinal muscular atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0810","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1016\/j.drudis.2017.01.013","article-title":"Safety of antisense oligonucleotide and siRNA-based therapeutics","volume":"22","author":"Chi","year":"2017","journal-title":"Drug Discov. Today"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0815","doi-asserted-by":"crossref","first-page":"2008","DOI":"10.1093\/nar\/gkh516","article-title":"2\u2032-O-methyl-modified phosphorothioate antisense oligonucleotides have reduced non-specific effects in vitro","volume":"32","author":"Yoo","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0820","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/nrneurol.2017.148","article-title":"Antisense oligonucleotides: the next frontier for treatment of neurological disorders","volume":"14","author":"Rinaldi","year":"2018","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0825","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1080\/17425247.2018.1473375","article-title":"Recent preclinical and clinical advances in oligonucleotide conjugates","volume":"15","author":"Craig","year":"2018","journal-title":"Expert opinion on drug delivery"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0830","article-title":"Conjugation of hydrophobic moieties enhances potency of antisense oligonucleotides in the muscle of rodents and non-human primates","author":"Ostergaard","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0835","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":"Molecular therapy. Nucleic acids"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0840","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1038\/s41591-018-0295-0","article-title":"Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect","volume":"25","author":"Cideciyan","year":"2019","journal-title":"Nat. Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0845","doi-asserted-by":"crossref","first-page":"12489","DOI":"10.1073\/pnas.1809432115","article-title":"Targeted exon skipping of a <em>CEP290<\/em> mutation rescues Joubert syndrome phenotypes in vitro and in a murine model","volume":"115","author":"Ramsbottom","year":"2018","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0850","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/s41591-018-0327-9","article-title":"Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10","volume":"25","author":"Maeder","year":"2019","journal-title":"Nat. Med."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0855","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/6986","article-title":"Spliceosome-mediated RNA trans-splicing as a tool for gene therapy","volume":"17","author":"Puttaraju","year":"1999","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0860","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1016\/j.ymthe.2005.09.006","article-title":"Spliceosome-mediated RNA trans-splicing","volume":"12","author":"Yang","year":"2005","journal-title":"Mol. Ther."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0865","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.omtn.2018.05.014","article-title":"Spliceosome-mediated pre-mRNA trans-splicing can repair CEP290 mRNA","volume":"12","author":"Dooley","year":"2018","journal-title":"Molecular therapy. Nucleic acids"},{"key":"10.1016\/j.bbagrm.2019.194433_bb0870","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/humu.21509","article-title":"U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation","volume":"32","author":"Schmid","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.bbagrm.2019.194433_bb0875","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/mt.2011.7","article-title":"Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells","volume":"19","author":"Glaus","year":"2011","journal-title":"Mol. Ther."},{"key":"10.1016\/j.bbagrm.2019.194433_bb9000","first-page":"225","article-title":"Alstrom syndrome: genetics and clinical overview, Current genomics","volume":"12","author":"Marshall","year":"2011"},{"key":"10.1016\/j.bbagrm.2019.194433_bb8000","doi-asserted-by":"crossref","first-page":"244","DOI":"10.3389\/fped.2017.00244","article-title":"Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances","volume":"5","author":"Hartill","year":"2017","journal-title":"Frontiers in pediatrics"},{"key":"10.1016\/j.bbagrm.2019.194433_bb7000","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.ejmg.2018.03.012","article-title":"Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome","volume":"61","author":"Bonnard","year":"2018","journal-title":"European journal of medical genetics"}],"container-title":["Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1874939919302020?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1874939919302020?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:30:21Z","timestamp":1761744621000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1874939919302020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":174,"journal-issue":{"issue":"11-12","published-print":{"date-parts":[[2019,11]]}},"alternative-id":["S1874939919302020"],"URL":"https:\/\/doi.org\/10.1016\/j.bbagrm.2019.194433","relation":{},"ISSN":["1874-9399"],"issn-type":[{"value":"1874-9399","type":"print"}],"subject":[],"published":{"date-parts":[[2019,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Splicing in the pathogenesis, diagnosis and treatment of ciliopathies","name":"articletitle","label":"Article Title"},{"value":"Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbagrm.2019.194433","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"194433"}}