{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:58:23Z","timestamp":1791928703750,"version":"4.3.4"},"reference-count":43,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"8","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2019,7,1]]},"DOI":"10.1167\/iovs.18-25643","type":"journal-article","created":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T10:30:29Z","timestamp":1561977029000},"page":"2822","source":"Crossref","is-referenced-by-count":12,"title":["Genotype\u2013Phenotype Analysis of a Novel Recessive and a Recurrent Dominant\n                    <i>SNRNP200<\/i>\n                    Variant Causing Retinitis Pigmentosa"],"prefix":"10.1167","volume":"60","author":[{"given":"Christina","family":"Gerth-Kahlert","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Koller","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James V. M.","family":"Hanson","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luzy","family":"Baehr","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Tiwari","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma","family":"Kivrak-Pfiffner","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Bahr","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Berger","sequence":"additional","affiliation":[{"name":"Institute of Medical Molecular Genetics, University of Zurich, Schlieren, Switzerland"},{"name":"Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland"},{"name":"Neuroscience Center Zurich, University and ETH Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"i1552-5783-60-8-2822-b01","doi-asserted-by":"crossref","unstructured":"Laggerbauer\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAchsel\n\t\t\t\t\t\t\tT,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLuhrmann\n\t\t\t\t\t\t\tR.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tThe human U5-200kD DEXH-box protein unwinds U4\/U6 RNA duplices in vitro.\n\t\t\t\t\tProc Natl Acad Sci U S A.\n\t\t\t\t\t1998;\n\t\t\t\t\t95:\n\t\t\t\t\t4188\u20134192.","DOI":"10.1073\/pnas.95.8.4188"},{"key":"i1552-5783-60-8-2822-b02","doi-asserted-by":"crossref","unstructured":"Raghunathan\n\t\t\t\t\t\t\tPL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGuthrie\n\t\t\t\t\t\t\tC.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tRNA unwinding in U4\/U6 snRNPs requires ATP hydrolysis and the DEIH-box splicing factor Brr2.\n\t\t\t\t\tCurr Biol.\n\t\t\t\t\t1998;\n\t\t\t\t\t8:\n\t\t\t\t\t847\u2013855.","DOI":"10.1016\/S0960-9822(07)00345-4"},{"key":"i1552-5783-60-8-2822-b03","doi-asserted-by":"crossref","unstructured":"Cvackova\n\t\t\t\t\t\t\tZ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMateju\n\t\t\t\t\t\t\tD,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tStanek\n\t\t\t\t\t\t\tD.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tRetinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.\n\t\t\t\t\tHum Mutat.\n\t\t\t\t\t2014;\n\t\t\t\t\t35:\n\t\t\t\t\t308\u2013317.","DOI":"10.1002\/humu.22481"},{"key":"i1552-5783-60-8-2822-b04","doi-asserted-by":"crossref","unstructured":"Zhao\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBellur\n\t\t\t\t\t\t\tDL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLu\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tAutosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4\/U6 snRNAs.\n\t\t\t\t\tAm J Hum Genet.\n\t\t\t\t\t2009;\n\t\t\t\t\t85:\n\t\t\t\t\t617\u2013627.","DOI":"10.1016\/j.ajhg.2009.09.020"},{"key":"i1552-5783-60-8-2822-b05","doi-asserted-by":"crossref","unstructured":"Zhao\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLu\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZhou\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZhang\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZhao\n\t\t\t\t\t\t\tK,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLarsson\n\t\t\t\t\t\t\tC.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tA novel locus (RP33) for autosomal dominant retinitis pigmentosa mapping to chromosomal region 2cen-q12.1.\n\t\t\t\t\tHum Genet.\n\t\t\t\t\t2006;\n\t\t\t\t\t119:\n\t\t\t\t\t617\u2013623.","DOI":"10.1007\/s00439-006-0168-3"},{"key":"i1552-5783-60-8-2822-b06","doi-asserted-by":"crossref","unstructured":"Benaglio\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMcGee\n\t\t\t\t\t\t\tTL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCapelli\n\t\t\t\t\t\t\tLP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHarper\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBerson\n\t\t\t\t\t\t\tEL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRivolta\n\t\t\t\t\t\t\tC.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tNext generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.\n\t\t\t\t\tHum Mutat.\n\t\t\t\t\t2011;\n\t\t\t\t\t32:\n\t\t\t\t\tE2246\u2013E2258.","DOI":"10.1002\/humu.21485"},{"key":"i1552-5783-60-8-2822-b07","doi-asserted-by":"crossref","unstructured":"Coussa\n\t\t\t\t\t\t\tRG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tChakarova\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAjlan\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tGenotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2015;\n\t\t\t\t\t56:\n\t\t\t\t\t8297\u20138305.","DOI":"10.1167\/iovs.15-17104"},{"key":"i1552-5783-60-8-2822-b08","doi-asserted-by":"crossref","unstructured":"Huang\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tXiao\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLi\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tMolecular genetics of cone-rod dystrophy in Chinese patients: new data from 61 probands and mutation overview of 163 probands.\n\t\t\t\t\tExp Eye Res.\n\t\t\t\t\t2016;\n\t\t\t\t\t146:\n\t\t\t\t\t252\u2013258.","DOI":"10.1016\/j.exer.2016.03.015"},{"key":"i1552-5783-60-8-2822-b09","doi-asserted-by":"crossref","unstructured":"Wang\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tWang\n\t\t\t\t\t\t\tH,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSun\n\t\t\t\t\t\t\tV,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tComprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.\n\t\t\t\t\tJ Med Genet.\n\t\t\t\t\t2013;\n\t\t\t\t\t50:\n\t\t\t\t\t674\u2013688.","DOI":"10.1136\/jmedgenet-2013-101558"},{"key":"i1552-5783-60-8-2822-b10","doi-asserted-by":"crossref","unstructured":"Bujakowska\n\t\t\t\t\t\t\tKM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFernandez-Godino\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPlace\n\t\t\t\t\t\t\tE,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tCopy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.\n\t\t\t\t\tGenet Med.\n\t\t\t\t\t2017;\n\t\t\t\t\t19:\n\t\t\t\t\t643\u2013651.","DOI":"10.1038\/gim.2016.158"},{"key":"i1552-5783-60-8-2822-b11","doi-asserted-by":"crossref","unstructured":"Astuti\n\t\t\t\t\t\t\tGDN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tvan den Born\n\t\t\t\t\t\t\tLI,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKhan\n\t\t\t\t\t\t\tMI,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tIdentification of inherited retinal disease-associated genetic variants in 11 candidate genes.\n\t\t\t\t\tGenes (Basel).\n\t\t\t\t\t2018;\n\t\t\t\t\t9:\n\t\t\t\t\tE21.","DOI":"10.3390\/genes9010021"},{"key":"i1552-5783-60-8-2822-b12","doi-asserted-by":"crossref","unstructured":"Zhou\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tXiao\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLi\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tJia\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZhang\n\t\t\t\t\t\t\tQ.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tFrequent mutations of RetNet genes in eoHM: further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.\n\t\t\t\t\tExp Eye Res.\n\t\t\t\t\t2018;\n\t\t\t\t\t171:\n\t\t\t\t\t76\u201391.","DOI":"10.1016\/j.exer.2018.02.007"},{"key":"i1552-5783-60-8-2822-b13","doi-asserted-by":"crossref","unstructured":"Hood\n\t\t\t\t\t\t\tDC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBach\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBrigell\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition).\n\t\t\t\t\tDoc Ophthalmol.\n\t\t\t\t\t2012;\n\t\t\t\t\t124:\n\t\t\t\t\t1\u201313.","DOI":"10.1007\/s10633-011-9296-8"},{"key":"i1552-5783-60-8-2822-b14","doi-asserted-by":"crossref","unstructured":"Lek\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKarczewski\n\t\t\t\t\t\t\tKJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMinikel\n\t\t\t\t\t\t\tEV,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tAnalysis of protein-coding genetic variation in 60,706 humans.\n\t\t\t\t\tNature.\n\t\t\t\t\t2016;\n\t\t\t\t\t536:\n\t\t\t\t\t285\u2013291.","DOI":"10.1038\/nature19057"},{"key":"i1552-5783-60-8-2822-b15","doi-asserted-by":"crossref","unstructured":"Klambauer\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSchwarzbauer\n\t\t\t\t\t\t\tK,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMayr\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tcn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate.\n\t\t\t\t\tNucleic Acids Res.\n\t\t\t\t\t2012;\n\t\t\t\t\t40:\n\t\t\t\t\te69.","DOI":"10.1093\/nar\/gks003"},{"key":"i1552-5783-60-8-2822-b16","doi-asserted-by":"crossref","unstructured":"D'Aurizio\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPippucci\n\t\t\t\t\t\t\tT,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tTattini\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGiusti\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPellegrini\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMagi\n\t\t\t\t\t\t\tA.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tEnhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.\n\t\t\t\t\tNucleic Acids Res.\n\t\t\t\t\t2016;\n\t\t\t\t\t44:\n\t\t\t\t\te154.","DOI":"10.1093\/nar\/gkw695"},{"key":"i1552-5783-60-8-2822-b17","doi-asserted-by":"crossref","unstructured":"Haghighi\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tTiwari\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPiri\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tHomozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.\n\t\t\t\t\tPLoS One.\n\t\t\t\t\t2014;\n\t\t\t\t\t9:\n\t\t\t\t\te112747.","DOI":"10.1371\/journal.pone.0112747"},{"key":"i1552-5783-60-8-2822-b18","doi-asserted-by":"crossref","unstructured":"McCulloch\n\t\t\t\t\t\t\tDL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMarmor\n\t\t\t\t\t\t\tMF,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBrigell\n\t\t\t\t\t\t\tMG,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tISCEV Standard for full-field clinical electroretinography (2015 update).\n\t\t\t\t\tDoc Ophthalmol.\n\t\t\t\t\t2015;\n\t\t\t\t\t130:\n\t\t\t\t\t1\u201312.","DOI":"10.1007\/s10633-014-9473-7"},{"key":"i1552-5783-60-8-2822-b19","unstructured":"Pan\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tChen\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLiu\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tMutation analysis of pre-mRNA splicing genes in Chinese families with retinitis pigmentosa.\n\t\t\t\t\tMol Vis.\n\t\t\t\t\t2014;\n\t\t\t\t\t20:\n\t\t\t\t\t770\u2013779."},{"key":"i1552-5783-60-8-2822-b20","doi-asserted-by":"crossref","unstructured":"Tavtigian\n\t\t\t\t\t\t\tSV,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDeffenbaugh\n\t\t\t\t\t\t\tAM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tYin\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tComprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.\n\t\t\t\t\tJ Med Genet.\n\t\t\t\t\t2006;\n\t\t\t\t\t43:\n\t\t\t\t\t295\u2013305.","DOI":"10.1136\/jmg.2005.033878"},{"key":"i1552-5783-60-8-2822-b21","doi-asserted-by":"crossref","unstructured":"Sim\n\t\t\t\t\t\t\tNL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKumar\n\t\t\t\t\t\t\tP,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHu\n\t\t\t\t\t\t\tJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHenikoff\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSchneider\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tNg\n\t\t\t\t\t\t\tPC.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tSIFT web server: predicting effects of amino acid substitutions on proteins.\n\t\t\t\t\tNucleic Acids Res.\n\t\t\t\t\t2012;\n\t\t\t\t\t40:\n\t\t\t\t\tW452\u2013W457.","DOI":"10.1093\/nar\/gks539"},{"key":"i1552-5783-60-8-2822-b22","doi-asserted-by":"crossref","unstructured":"Schwarz\n\t\t\t\t\t\t\tJM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCooper\n\t\t\t\t\t\t\tDN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSchuelke\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSeelow\n\t\t\t\t\t\t\tD.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tMutationTaster2: mutation prediction for the deep-sequencing age.\n\t\t\t\t\tNat Methods.\n\t\t\t\t\t2014;\n\t\t\t\t\t11:\n\t\t\t\t\t361\u2013362.","DOI":"10.1038\/nmeth.2890"},{"key":"i1552-5783-60-8-2822-b23","doi-asserted-by":"crossref","unstructured":"Adzhubei\n\t\t\t\t\t\t\tIA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSchmidt\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPeshkin\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tA method and server for predicting damaging missense mutations.\n\t\t\t\t\tNat Methods.\n\t\t\t\t\t2010;\n\t\t\t\t\t7:\n\t\t\t\t\t248\u2013249.","DOI":"10.1038\/nmeth0410-248"},{"key":"i1552-5783-60-8-2822-b24","doi-asserted-by":"crossref","unstructured":"Stone\n\t\t\t\t\t\t\tEA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSidow\n\t\t\t\t\t\t\tA.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tPhysicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity.\n\t\t\t\t\tGenome Res.\n\t\t\t\t\t2005;\n\t\t\t\t\t15:\n\t\t\t\t\t978\u2013986.","DOI":"10.1101\/gr.3804205"},{"key":"i1552-5783-60-8-2822-b25","doi-asserted-by":"crossref","unstructured":"Raponi\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tKralovicova\n\t\t\t\t\t\t\tJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCopson\n\t\t\t\t\t\t\tE,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tPrediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.\n\t\t\t\t\tHum Mutat.\n\t\t\t\t\t2011;\n\t\t\t\t\t32:\n\t\t\t\t\t436\u2013444.","DOI":"10.1002\/humu.21458"},{"key":"i1552-5783-60-8-2822-b26","doi-asserted-by":"crossref","unstructured":"Zhang\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tXu\n\t\t\t\t\t\t\tT,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMaeder\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tStructural evidence for consecutive Hel308-like modules in the spliceosomal ATPase Brr2.\n\t\t\t\t\tNat Struct Mol Biol.\n\t\t\t\t\t2009;\n\t\t\t\t\t16:\n\t\t\t\t\t731\u2013739.","DOI":"10.1038\/nsmb.1625"},{"key":"i1552-5783-60-8-2822-b27","doi-asserted-by":"crossref","unstructured":"Li\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMei\n\t\t\t\t\t\t\tH,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMacDonald\n\t\t\t\t\t\t\tIM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tJiao\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHejtmancik\n\t\t\t\t\t\t\tJF.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tMutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2010;\n\t\t\t\t\t51:\n\t\t\t\t\t1036\u20131043.","DOI":"10.1167\/iovs.09-3725"},{"key":"i1552-5783-60-8-2822-b28","unstructured":"Bowne\n\t\t\t\t\t\t\tSJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSullivan\n\t\t\t\t\t\t\tLS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAvery\n\t\t\t\t\t\t\tCE,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tMutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.\n\t\t\t\t\tMol Vis.\n\t\t\t\t\t2013;\n\t\t\t\t\t19:\n\t\t\t\t\t2407\u20132417."},{"key":"i1552-5783-60-8-2822-b29","doi-asserted-by":"crossref","unstructured":"Ezquerra-Inchausti\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBarandika\n\t\t\t\t\t\t\tO,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAnasagasti\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tIrigoyen\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLopez de Munain\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRuiz-Ederra\n\t\t\t\t\t\t\tJ.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tHigh prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.\n\t\t\t\t\tSci Rep.\n\t\t\t\t\t2017;\n\t\t\t\t\t7:\n\t\t\t\t\t39652.","DOI":"10.1038\/srep39652"},{"key":"i1552-5783-60-8-2822-b30","doi-asserted-by":"crossref","unstructured":"Huang\n\t\t\t\t\t\t\tXF,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tHuang\n\t\t\t\t\t\t\tF,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tWu\n\t\t\t\t\t\t\tKC,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tGenotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.\n\t\t\t\t\tGenet Med.\n\t\t\t\t\t2015;\n\t\t\t\t\t17:\n\t\t\t\t\t271\u2013278.","DOI":"10.1038\/gim.2014.138"},{"key":"i1552-5783-60-8-2822-b31","doi-asserted-by":"crossref","unstructured":"Van Cauwenbergh\n\t\t\t\t\t\t\tC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tCoppieters\n\t\t\t\t\t\t\tF,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRoels\n\t\t\t\t\t\t\tD,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tMutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families.\n\t\t\t\t\tPLoS One.\n\t\t\t\t\t2017;\n\t\t\t\t\t12:\n\t\t\t\t\te0170038.","DOI":"10.1371\/journal.pone.0170038"},{"key":"i1552-5783-60-8-2822-b32","doi-asserted-by":"crossref","unstructured":"Xu\n\t\t\t\t\t\t\tY,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGuan\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tShen\n\t\t\t\t\t\t\tT,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tMutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.\n\t\t\t\t\tHum Genet.\n\t\t\t\t\t2014;\n\t\t\t\t\t133:\n\t\t\t\t\t1255\u20131271.","DOI":"10.1007\/s00439-014-1460-2"},{"key":"i1552-5783-60-8-2822-b33","doi-asserted-by":"crossref","unstructured":"de Castro-Miro\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPomares\n\t\t\t\t\t\t\tE,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLores-Motta\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tCombined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.\n\t\t\t\t\tPLoS One.\n\t\t\t\t\t2014;\n\t\t\t\t\t9:\n\t\t\t\t\te88410.","DOI":"10.1371\/journal.pone.0088410"},{"key":"i1552-5783-60-8-2822-b34","doi-asserted-by":"crossref","unstructured":"Wang\n\t\t\t\t\t\t\tJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZhang\n\t\t\t\t\t\t\tVW,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tFeng\n\t\t\t\t\t\t\tY,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tDependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2014;\n\t\t\t\t\t55:\n\t\t\t\t\t6213\u20136223.","DOI":"10.1167\/iovs.14-14936"},{"key":"i1552-5783-60-8-2822-b35","doi-asserted-by":"crossref","unstructured":"Patel\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAldahmesh\n\t\t\t\t\t\t\tMA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tAlkuraya\n\t\t\t\t\t\t\tH,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tExpanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.\n\t\t\t\t\tGenet Med.\n\t\t\t\t\t2016;\n\t\t\t\t\t18:\n\t\t\t\t\t554\u2013562.","DOI":"10.1038\/gim.2015.127"},{"key":"i1552-5783-60-8-2822-b36","doi-asserted-by":"crossref","unstructured":"Wang\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZhang\n\t\t\t\t\t\t\tJ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tChen\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tApplication of whole exome and targeted panel sequencing in the clinical molecular diagnosis of 319 Chinese families with inherited retinal dystrophy and comparison study.\n\t\t\t\t\tGenes (Basel).\n\t\t\t\t\t2018;\n\t\t\t\t\t9:\n\t\t\t\t\t360.","DOI":"10.3390\/genes9070360"},{"key":"i1552-5783-60-8-2822-b37","doi-asserted-by":"crossref","unstructured":"Liu\n\t\t\t\t\t\t\tT,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tJin\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tZhang\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tA novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family.\n\t\t\t\t\tPLoS One.\n\t\t\t\t\t2012;\n\t\t\t\t\t7:\n\t\t\t\t\te45464.","DOI":"10.1371\/journal.pone.0045464"},{"key":"i1552-5783-60-8-2822-b38","doi-asserted-by":"crossref","unstructured":"Berson\n\t\t\t\t\t\t\tEL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRosner\n\t\t\t\t\t\t\tB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSandberg\n\t\t\t\t\t\t\tMA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDryja\n\t\t\t\t\t\t\tTP.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tOcular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).\n\t\t\t\t\tArch Ophthalmol.\n\t\t\t\t\t1991;\n\t\t\t\t\t109:\n\t\t\t\t\t92\u2013101.","DOI":"10.1001\/archopht.1991.01080010094039"},{"key":"i1552-5783-60-8-2822-b39","doi-asserted-by":"crossref","unstructured":"Venturini\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRose\n\t\t\t\t\t\t\tAM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tShah\n\t\t\t\t\t\t\tAZ,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBhattacharya\n\t\t\t\t\t\t\tSS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tRivolta\n\t\t\t\t\t\t\tC.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tCNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.\n\t\t\t\t\tPLoS Genet.\n\t\t\t\t\t2012;\n\t\t\t\t\t8:\n\t\t\t\t\te1003040.","DOI":"10.1371\/journal.pgen.1003040"},{"key":"i1552-5783-60-8-2822-b40","doi-asserted-by":"crossref","unstructured":"Maubaret\n\t\t\t\t\t\t\tCG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tVaclavik\n\t\t\t\t\t\t\tV,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMukhopadhyay\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tAutosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2011;\n\t\t\t\t\t52:\n\t\t\t\t\t9304\u20139309.","DOI":"10.1167\/iovs.11-8372"},{"key":"i1552-5783-60-8-2822-b41","doi-asserted-by":"crossref","unstructured":"Verbakel\n\t\t\t\t\t\t\tSK,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tvan Huet\n\t\t\t\t\t\t\tRAC,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tBoon\n\t\t\t\t\t\t\tCJF,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tNon-syndromic retinitis pigmentosa.\n\t\t\t\t\tProg Retin Eye Res.\n\t\t\t\t\t2018;\n\t\t\t\t\t66:\n\t\t\t\t\t157\u2013186.","DOI":"10.1016\/j.preteyeres.2018.03.005"},{"key":"i1552-5783-60-8-2822-b42","doi-asserted-by":"crossref","unstructured":"Strong\n\t\t\t\t\t\t\tS,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLiew\n\t\t\t\t\t\t\tG,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tMichaelides\n\t\t\t\t\t\t\tM.\n\t\t\t\t\t\t\n\t\t\t\t\t\n\t\t\t\t\tRetinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention.\n\t\t\t\t\tBr J Ophthalmol.\n\t\t\t\t\t2017;\n\t\t\t\t\t101:\n\t\t\t\t\t31\u201337.","DOI":"10.1136\/bjophthalmol-2016-309376"},{"key":"i1552-5783-60-8-2822-b43","doi-asserted-by":"crossref","unstructured":"Zhang\n\t\t\t\t\t\t\tX,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLai\n\t\t\t\t\t\t\tTYY,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tChiang\n\t\t\t\t\t\t\tSWY,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tContribution of SNRNP200 sequence variations to retinitis pigmentosa.\n\t\t\t\t\tEye.\n\t\t\t\t\t2013;\n\t\t\t\t\t27:\n\t\t\t\t\t1204\u20131213.","DOI":"10.1038\/eye.2013.137"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?articleid=2737596","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:06Z","timestamp":1791927066000},"score":1,"resource":{"primary":{"URL":"http:\/\/iovs.arvojournals.org\/article.aspx?doi=10.1167\/iovs.18-25643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,1]]},"references-count":43,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2019,7,1]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.18-25643","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7,1]]}}}