{"id":"https://openalex.org/W2941269147","doi":null,"title":"A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.","display_name":"A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.","publication_year":2019,"publication_date":"2019-01-01","ids":{"openalex":"https://openalex.org/W2941269147","mag":"2941269147","pmid":"https://pubmed.ncbi.nlm.nih.gov/30820151","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6386512"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:5384805","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6386512","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://europepmc.org/pmc/articles/PMC6386512","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5080852015","display_name":"Yasmin Tatour","orcid":"https://orcid.org/0000-0003-1673-3949","observed_orcids":["https://orcid.org/0000-0003-1673-3949"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Yasmin Tatour","raw_affiliation_strings":["Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055492722","display_name":"Jonathan Tamaiev","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Jonathan Tamaiev","raw_affiliation_strings":["Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026206160","display_name":"Shamaly Shamaly","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210113309","display_name":"Bnai Zion Medical Center","ror":"https://ror.org/01yvj7247","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210113309"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Shamaly Shamaly","raw_affiliation_strings":["Department of Ophthalmology, Bnai Zion Medical Center, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Bnai Zion Medical Center, Haifa, Israel","institution_ids":["https://openalex.org/I4210113309"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101986633","display_name":"Roberto Colombo","orcid":"https://orcid.org/0000-0001-6724-1990","observed_orcids":["https://orcid.org/0000-0001-6724-1990"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]},{"id":"https://openalex.org/I2803066834","display_name":"Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico","ror":"https://ror.org/016zn0y21","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I189158943","https://openalex.org/I2803066834","https://openalex.org/I4210153126"]},{"id":"https://openalex.org/I4210094195","display_name":"Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda","ror":"https://ror.org/00htrxv69","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210094195"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Roberto Colombo","raw_affiliation_strings":["Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred Heart, Milan, Italy","Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Clinical Biochemistry, Faculty of Medicine, Catholic University of the Sacred Heart, Milan, Italy","institution_ids":["https://openalex.org/I103320735"]},{"raw_affiliation_string":"Center for the Study of Rare Hereditary Diseases, Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy","institution_ids":["https://openalex.org/I2803066834","https://openalex.org/I4210094195"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039850806","display_name":"Ephrat Bril","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Ephrat Bril","raw_affiliation_strings":["Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059484697","display_name":"Tom Rabinowitz","orcid":"https://orcid.org/0000-0002-4052-1009","observed_orcids":["https://orcid.org/0000-0002-4052-1009"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Tom Rabinowitz","raw_affiliation_strings":["Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077926511","display_name":"Alona Yaakobi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801607793","display_name":"Hillel Yaffe Medical Center","ror":"https://ror.org/01a6tsm75","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801607793"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Alona Yaakobi","raw_affiliation_strings":["Department of Ophthalmology, Hillel Yaffe Medical Center, Hadera, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Hillel Yaffe Medical Center, Hadera, Israel","institution_ids":["https://openalex.org/I2801607793"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058014058","display_name":"Eedy Mezer","orcid":"https://orcid.org/0000-0002-2818-7538","observed_orcids":["https://orcid.org/0000-0002-2818-7538"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Eedy Mezer","raw_affiliation_strings":["Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","Alberto Moscona Department of Ophthalmology, Rambam Health Care Center, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]},{"raw_affiliation_string":"Alberto Moscona Department of Ophthalmology, Rambam Health Care Center, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003780107","display_name":"Rina Leibu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Rina Leibu","raw_affiliation_strings":["Alberto Moscona Department of Ophthalmology, Rambam Health Care Center, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Alberto Moscona Department of Ophthalmology, Rambam Health Care Center, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005139430","display_name":"Beatrice Tiosano","orcid":"https://orcid.org/0000-0002-1379-4861","observed_orcids":["https://orcid.org/0000-0002-1379-4861"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]},{"id":"https://openalex.org/I2801607793","display_name":"Hillel Yaffe Medical Center","ror":"https://ror.org/01a6tsm75","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801607793"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Beatrice Tiosano","raw_affiliation_strings":["Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","Department of Ophthalmology, Hillel Yaffe Medical Center, Hadera, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]},{"raw_affiliation_string":"Department of Ophthalmology, Hillel Yaffe Medical Center, Hadera, Israel","institution_ids":["https://openalex.org/I2801607793"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008264999","display_name":"Noam Shomron","orcid":"https://orcid.org/0000-0001-9913-6124","observed_orcids":["https://orcid.org/0000-0001-9913-6124"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Noam Shomron","raw_affiliation_strings":["Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026945546","display_name":"Itay Chowers","orcid":"https://orcid.org/0000-0003-1897-4973","observed_orcids":["https://orcid.org/0000-0003-1897-4973","https://orcid.org/0000-0002-9608-2949"]},"institutions":[{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Itay Chowers","raw_affiliation_strings":["Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041639584","display_name":"Eyal Banin","orcid":"https://orcid.org/0000-0002-6271-7811","observed_orcids":["https://orcid.org/0000-0002-6271-7811"]},"institutions":[{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Eyal Banin","raw_affiliation_strings":["Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033112706","display_name":"Dror Sharon","orcid":"https://orcid.org/0000-0002-1789-5811","observed_orcids":["https://orcid.org/0000-0002-1789-5811"]},"institutions":[{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Dror Sharon","raw_affiliation_strings":["Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5024660419","display_name":"Tamar Ben\u2010Yosef","orcid":"https://orcid.org/0000-0003-3035-4654","observed_orcids":["https://orcid.org/0000-0003-3035-4654"]},"institutions":[{"id":"https://openalex.org/I174306211","display_name":"Technion \u2013 Israel Institute of Technology","ror":"https://ror.org/03qryx823","country_code":"IL","type":"education","lineage":["https://openalex.org/I174306211"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Tamar Ben-Yosef","raw_affiliation_strings":["Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ruth & Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel","institution_ids":["https://openalex.org/I174306211"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":9,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.383,"has_fulltext":false,"cited_by_count":19,"citation_normalized_percentile":{"value":0.9132508,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"25","issue":null,"first_page":"155","last_page":"164"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.8769999742507935},{"id":"https://openalex.org/keywords/pde6b","display_name":"PDE6B","score":0.9610000252723694},{"id":"https://openalex.org/keywords/autosomal-recessive-retinitis-pigmentosa","display_name":"autosomal recessive retinitis pigmentosa","score":0.9430000185966492},{"id":"https://openalex.org/keywords/intronic-variants","display_name":"intronic variants","score":0.8830000162124634},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.5649999976158142},{"id":"https://openalex.org/keywords/splice-site-variant","display_name":"splice site mutation","score":0.7099999785423279},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.6779999732971191},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.6800000071525574},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.8479999899864197},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.6069999933242798},{"id":"https://openalex.org/keywords/carrier-screening","display_name":"carrier screening","score":0.9580000042915344},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.9729999899864197}],"concepts":[{"id":"https://openalex.org/C166342232","wikidata":"https://www.wikidata.org/wiki/Q11936831","display_name":"Minigene","level":5,"score":0.7878741025924683},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7494425177574158},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.6987349390983582},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.6724842190742493},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5963295698165894},{"id":"https://openalex.org/C94671646","wikidata":"https://www.wikidata.org/wiki/Q207551","display_name":"Intron","level":3,"score":0.5947689414024353},{"id":"https://openalex.org/C62257209","wikidata":"https://www.wikidata.org/wiki/Q5487490","display_name":"Splice site mutation","level":5,"score":0.5668455362319946},{"id":"https://openalex.org/C54458228","wikidata":"https://www.wikidata.org/wiki/Q237218","display_name":"RNA splicing","level":4,"score":0.5420573353767395},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.5073570609092712},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4700701832771301},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.43401849269866943},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.41171061992645264},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.410994291305542},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.34818142652511597},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2390499711036682},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.18592295050621033},{"id":"https://openalex.org/C194583182","wikidata":"https://www.wikidata.org/wiki/Q21114084","display_name":"Alternative splicing","level":4,"score":0.18284013867378235},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005074","descriptor_name":"Evoked Potentials, Visual","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D005091","descriptor_name":"Exons","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007438","descriptor_name":"Introns","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007585","descriptor_name":"Jews","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D012800","descriptor_name":"Siberia","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D015810","descriptor_name":"Linkage Disequilibrium","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015870","descriptor_name":"Gene Expression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019295","descriptor_name":"Computational Biology","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D022821","descriptor_name":"RNA Splice Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D041623","descriptor_name":"Tomography, Optical Coherence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054707","descriptor_name":"Cyclic Nucleotide Phosphodiesterases, Type 6","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D054707","descriptor_name":"Cyclic Nucleotide Phosphodiesterases, Type 6","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":4,"locations":[{"id":"pmh:oai:europepmc.org:5384805","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6386512","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:30820151","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/30820151","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular vision","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6386512","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6386512/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Vis","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:94c117db1aaf469d96cce335fc19220f","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/94c117db1aaf469d96cce335fc19220f","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Molecular Vision, Vol 25, Iss 1, Pp 155-164 (2019)","raw_type":"article"}],"best_oa_location":{"id":"pmh:oai:europepmc.org:5384805","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC6386512","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":36,"referenced_works":["https://openalex.org/W1488079683","https://openalex.org/W1522536942","https://openalex.org/W1524174242","https://openalex.org/W1966673185","https://openalex.org/W1984068087","https://openalex.org/W1996777571","https://openalex.org/W2002369733","https://openalex.org/W2012517469","https://openalex.org/W2019422832","https://openalex.org/W2022177992","https://openalex.org/W2026842045","https://openalex.org/W2059521359","https://openalex.org/W2065599814","https://openalex.org/W2069494839","https://openalex.org/W2077274995","https://openalex.org/W2092768207","https://openalex.org/W2093669238","https://openalex.org/W2112066577","https://openalex.org/W2121286926","https://openalex.org/W2132123037","https://openalex.org/W2139404928","https://openalex.org/W2149797542","https://openalex.org/W2162530578","https://openalex.org/W2166969139","https://openalex.org/W2170343590","https://openalex.org/W2413181863","https://openalex.org/W2462815544","https://openalex.org/W2547540394","https://openalex.org/W2564368426","https://openalex.org/W2569276661","https://openalex.org/W2587202392","https://openalex.org/W2620518508","https://openalex.org/W2793243054","https://openalex.org/W2793784362","https://openalex.org/W2794919915","https://openalex.org/W2888788964"],"related_works":["https://openalex.org/W2174311765","https://openalex.org/W4366815597","https://openalex.org/W6957947582","https://openalex.org/W4408122369","https://openalex.org/W3217613344","https://openalex.org/W2065599814","https://openalex.org/W2789581307","https://openalex.org/W2911685744","https://openalex.org/W2513800334","https://openalex.org/W4206350117"],"abstract_inverted_index":{"Purpose:":[0],"To":[1],"identify":[2],"the":[3,63,74,83,109,116,126,129,153,175],"genetic":[4,243],"basis":[5],"for":[6,219,237],"retinitis":[7],"pigmentosa":[8],"(RP)":[9],"in":[10,80,90,118,200,245],"a":[11,21,50,69,93,105,144,191,196,206,214],"cohort":[12],"of":[13,52,62,73,111,128,152,157,174,195,225],"Jewish":[14,120],"patients":[15],"from":[16],"Caucasia.":[17],"Methods:":[18],"Patients":[19],"underwent":[20],"detailed":[22],"ophthalmic":[23],"evaluation,":[24],"including":[25],"funduscopic":[26],"examination,":[27],"visual":[28,41],"field":[29],"testing,":[30],"optical":[31],"coherence":[32],"tomography":[33],"(OCT),":[34],"and":[35,40,57,89,108,242],"electrophysiological":[36],"tests,":[37],"electroretinography":[38],"(ERG)":[39],"evoked":[42],"potentials":[43],"(VEP).":[44],"Genetic":[45],"analysis":[46,61,100],"was":[47,66,78,101,122,140,203],"performed":[48,67],"with":[49,205],"combination":[51],"whole":[53],"exome":[54],"sequencing":[55],"(WES)":[56],"Sanger":[58],"sequencing.":[59],"Bioinformatic":[60],"WES":[64],"results":[65],"via":[68],"customized":[70],"pipeline.":[71],"Pathogenicity":[72],"identified":[75],"intronic":[76,211],"variant":[77,139],"evaluated":[79],"silico":[81],"using":[82,92],"web":[84],"tool":[85],"Human":[86],"Splicing":[87],"Finder,":[88],"vitro,":[91],"minigene-based":[94],"splicing":[95,162],"assay.":[96],"Linkage":[97],"disequilibrium":[98],"(LD)":[99],"used":[102,172],"to":[103,124,142,179,189],"demonstrate":[104],"founder":[106,207,215],"effect,":[107],"decay":[110],"LD":[112],"over":[113],"generations":[114],"around":[115],"mutation":[117,212,216],"Caucasus":[119,230],"chromosomes":[121,202],"modeled":[123],"estimate":[125],"age":[127],"most":[130],"recent":[131],"common":[132,197],"ancestor.":[133],"Results:":[134],"intron":[135,158],"15.":[136,159],"The":[137,193],"c.1921-9C>G":[138,210],"predicted":[141,188],"generate":[143],"novel":[145,167],"acceptor":[146,168],"splice":[147,155,169],"site,":[148,177],"nine":[149],"bases":[150],"upstream":[151],"original":[154],"site":[156,170],"In":[160],"vitro":[161],"assay":[163],"demonstrated":[164],"that":[165,217],"this":[166,246],"is":[171,187,213,234],"instead":[173],"wild-type":[176],"leading":[178],"an":[180],"8-bp":[181],"insertion":[182],"into":[183],"exon":[184],"16,":[185],"which":[186],"cause":[190],"frameshift.":[192],"presence":[194],"ancestral":[198],"haplotype":[199],"mutation-bearing":[201],"compatible":[204],"effect.":[208],"Conclusions:":[209],"accounts":[218],"at":[220],"least":[221],"40%":[222],"(6/15":[223],"families)":[224],"autosomal":[226],"recessive":[227],"RP":[228],"among":[229],"Jews.":[231],"This":[232],"result":[233],"highly":[235],"important":[236],"molecular":[238],"diagnosis,":[239],"carrier":[240],"screening,":[241],"counseling":[244],"population.":[247]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2019-05-03T00:00:00"}
