{"id":"https://openalex.org/W2078367679","doi":"https://doi.org/10.1186/s12863-014-0143-2","title":"Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree","display_name":"Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree","publication_year":2014,"publication_date":"2014-12-01","ids":{"openalex":"https://openalex.org/W2078367679","doi":"https://doi.org/10.1186/s12863-014-0143-2","mag":"2078367679","pmid":"https://pubmed.ncbi.nlm.nih.gov/25494902","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/4271491"},"language":"en","primary_location":{"id":"doi:10.1186/s12863-014-0143-2","doi":"https://doi.org/10.1186/s12863-014-0143-2","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12863-014-0143-2","pdf_url":"https://bmcgenomdata.biomedcentral.com/counter/pdf/10.1186/s12863-014-0143-2","source":{"id":"https://openalex.org/S4394735525","display_name":"BMC Genetics","issn_l":"1471-2156","issn":["1471-2156"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["anvur-scientific","doaj","ki-jl-1","poland-100","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcgenomdata.biomedcentral.com/counter/pdf/10.1186/s12863-014-0143-2","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111733126","display_name":"Cristina M\u00e9ndez\u2010Vidal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]},{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Cristina M\u00e9ndez-Vidal","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. cristina.mendez.exts@juntadeandalucia.es","Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. cristina.mendez.exts@juntadeandalucia.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. cristina.mendez.exts@juntadeandalucia.es","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. cristina.mendez.exts@juntadeandalucia.es","institution_ids":["https://openalex.org/I4210133602","https://openalex.org/I4210153139","https://openalex.org/I79238269"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069977630","display_name":"Nereida Bravo\u2010Gil","orcid":"https://orcid.org/0000-0002-2086-0468","observed_orcids":["https://orcid.org/0000-0002-2086-0468"]},"institutions":[{"id":"https://openalex.org/I134820265","display_name":"Consejo Superior de Investigaciones Cient\u00edficas","ror":"https://ror.org/02gfc7t72","country_code":"ES","type":"government","lineage":["https://openalex.org/I134820265"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]},{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Nereida Bravo-Gil","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. nereidai.bravo.exts@juntadeandalucia.es","Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. nereidai.bravo.exts@juntadeandalucia.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. nereidai.bravo.exts@juntadeandalucia.es","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. nereidai.bravo.exts@juntadeandalucia.es","institution_ids":["https://openalex.org/I134820265","https://openalex.org/I4210133602","https://openalex.org/I4210153139","https://openalex.org/I79238269"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076471323","display_name":"Mar\u00eda Gonz\u00e1lez\u2010del Pozo","orcid":"https://orcid.org/0000-0003-4858-938X","observed_orcids":["https://orcid.org/0000-0003-4858-938X"]},"institutions":[{"id":"https://openalex.org/I134820265","display_name":"Consejo Superior de Investigaciones Cient\u00edficas","ror":"https://ror.org/02gfc7t72","country_code":"ES","type":"government","lineage":["https://openalex.org/I134820265"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]},{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Mar\u00eda Gonz\u00e1lez-del Pozo","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. maria.gonzalez.exts@juntadeandalucia.es","Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. maria.gonzalez.exts@juntadeandalucia.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. maria.gonzalez.exts@juntadeandalucia.es","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. maria.gonzalez.exts@juntadeandalucia.es","institution_ids":["https://openalex.org/I134820265","https://openalex.org/I4210133602","https://openalex.org/I4210153139","https://openalex.org/I79238269"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069403027","display_name":"Alicia Vela\u2010Boza","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I918821925","display_name":"Junta de Andaluc\u00eda","ror":"https://ror.org/01jem9c82","country_code":"ES","type":"government","lineage":["https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Alicia Vela-Boza","raw_affiliation_strings":["Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain. alicia.vela.boza@juntadeandalucia.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain. alicia.vela.boza@juntadeandalucia.es","institution_ids":["https://openalex.org/I918821925"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074140420","display_name":"Joaqu\u00edn Dopazo","orcid":"https://orcid.org/0000-0003-3318-120X","observed_orcids":["https://orcid.org/0000-0003-3318-120X"]},"institutions":[{"id":"https://openalex.org/I4210165109","display_name":"Centro de Investigacion Principe Felipe","ror":"https://ror.org/05xr2yq54","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210165109"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Joaqu\u00edn Dopazo","raw_affiliation_strings":["Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia, Spain. jdopazo@cipf.es","Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain. jdopazo@cipf.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Computational Genomics Department, Centro de Investigaci\u00f3n Pr\u00edncipe Felipe (CIPF), Valencia, Spain. jdopazo@cipf.es","institution_ids":["https://openalex.org/I4210165109"]},{"raw_affiliation_string":"Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain. jdopazo@cipf.es","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050254001","display_name":"Salud Borrego","orcid":"https://orcid.org/0000-0002-2513-6161","observed_orcids":["https://orcid.org/0000-0002-2513-6161"]},"institutions":[{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]},{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Salud Borrego","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. salud.borrego.sspa@juntadeandalucia.es","Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. salud.borrego.sspa@juntadeandalucia.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. salud.borrego.sspa@juntadeandalucia.es","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. salud.borrego.sspa@juntadeandalucia.es","institution_ids":["https://openalex.org/I4210133602","https://openalex.org/I4210153139","https://openalex.org/I79238269"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085336232","display_name":"Guillermo Anti\u00f1olo","orcid":"https://orcid.org/0000-0002-2113-074X","observed_orcids":["https://orcid.org/0000-0002-2113-074X"]},"institutions":[{"id":"https://openalex.org/I134820265","display_name":"Consejo Superior de Investigaciones Cient\u00edficas","ror":"https://ror.org/02gfc7t72","country_code":"ES","type":"government","lineage":["https://openalex.org/I134820265"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]},{"id":"https://openalex.org/I4210133602","display_name":"Instituto de Biomedicina de Sevilla","ror":"https://ror.org/031zwx660","country_code":"ES","type":"facility","lineage":["https://openalex.org/I134820265","https://openalex.org/I158283456","https://openalex.org/I4210133602","https://openalex.org/I79238269","https://openalex.org/I918821925"]},{"id":"https://openalex.org/I4210153139","display_name":"Hospital Universitario Virgen del Roc\u00edo","ror":"https://ror.org/04vfhnm78","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I4210153139"]},{"id":"https://openalex.org/I79238269","display_name":"Universidad de Sevilla","ror":"https://ror.org/03yxnpp24","country_code":"ES","type":"education","lineage":["https://openalex.org/I79238269"]},{"id":"https://openalex.org/I918821925","display_name":"Junta de Andaluc\u00eda","ror":"https://ror.org/01jem9c82","country_code":"ES","type":"government","lineage":["https://openalex.org/I918821925"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Guillermo Anti\u00f1olo","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es","Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es","Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Roc\u00edo/CSIC/University of Seville, Avenida Manuel Siurot s/n, 41013, Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es","institution_ids":["https://openalex.org/I134820265","https://openalex.org/I4210133602","https://openalex.org/I4210153139","https://openalex.org/I79238269"]},{"raw_affiliation_string":"Genomics and Bioinformatics Platform of Andalusia (GBPA), Seville, Spain. guillermo.antinolo.sspa@juntadeandalucia.es","institution_ids":["https://openalex.org/I918821925"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5085336232"],"corresponding_institution_ids":["https://openalex.org/I134820265","https://openalex.org/I4210111366","https://openalex.org/I4210133602","https://openalex.org/I4210153139","https://openalex.org/I79238269","https://openalex.org/I918821925"],"apc_list":{"value":2170,"currency":"USD","value_usd":2170},"apc_paid":{"value":2170,"currency":"USD","value_usd":2170},"fwci":1.7255,"has_fulltext":true,"cited_by_count":21,"citation_normalized_percentile":{"value":0.81715963,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"15","issue":"1","first_page":"143","last_page":"143"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9897000193595886,"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":0.9897000193595886,"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":0.004800000227987766,"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":0.0019000000320374966,"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/autosomal-recessive-retinitis-pigmentosa","display_name":"autosomal recessive retinitis pigmentosa","score":0.902999997138977},{"id":"https://openalex.org/keywords/bardet-biedl-syndrome","display_name":"Bardet-Biedl syndrome","score":0.890999972820282},{"id":"https://openalex.org/keywords/bbs1","display_name":"BBS1","score":0.7350000143051147},{"id":"https://openalex.org/keywords/rp1","display_name":"RP1","score":0.9240000247955322},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.6729999780654907},{"id":"https://openalex.org/keywords/inherited-retinal-disease","display_name":"inherited retinal disease","score":0.8090000152587891},{"id":"https://openalex.org/keywords/genotype-phenotype-discordance","display_name":"genotype-phenotype discordance","score":0.7160000205039978},{"id":"https://openalex.org/keywords/co-segregation","display_name":"co-segregation","score":0.6439999938011169},{"id":"https://openalex.org/keywords/private-mutations","display_name":"private mutations","score":0.6660000085830688},{"id":"https://openalex.org/keywords/mutation-spectrum","display_name":"mutation spectrum","score":0.6759999990463257},{"id":"https://openalex.org/keywords/spanish-population","display_name":"Spanish population","score":0.5210000276565552}],"concepts":[{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7433779835700989},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6039918065071106},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.5707470178604126},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5252715349197388},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4550321102142334},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.27253854274749756},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","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":"D008869","descriptor_name":"Microtubule-Associated Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012160","descriptor_name":"Retina","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018895","descriptor_name":"Microsatellite Repeats","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020788","descriptor_name":"Bardet-Biedl Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1186/s12863-014-0143-2","doi":"https://doi.org/10.1186/s12863-014-0143-2","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12863-014-0143-2","pdf_url":"https://bmcgenomdata.biomedcentral.com/counter/pdf/10.1186/s12863-014-0143-2","source":{"id":"https://openalex.org/S4394735525","display_name":"BMC Genetics","issn_l":"1471-2156","issn":["1471-2156"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["anvur-scientific","doaj","ki-jl-1","poland-100","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genetics","raw_type":"journal-article"},{"id":"pmid:25494902","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/25494902","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":"BMC genetics","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:4271491","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC4271491/","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genet","raw_type":"Text"},{"id":"pmh:oai:idus.us.es:11441/108894","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/11441/108894","pdf_url":null,"source":{"id":"https://openalex.org/S4306401665","display_name":"Deposito de Investigacion Universidad de Sevilla (University of Seville)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I79238269","host_organization_name":"Universidad de Sevilla","host_organization_lineage":["https://openalex.org/I79238269"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"journal article"}],"best_oa_location":{"id":"doi:10.1186/s12863-014-0143-2","doi":"https://doi.org/10.1186/s12863-014-0143-2","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12863-014-0143-2","pdf_url":"https://bmcgenomdata.biomedcentral.com/counter/pdf/10.1186/s12863-014-0143-2","source":{"id":"https://openalex.org/S4394735525","display_name":"BMC Genetics","issn_l":"1471-2156","issn":["1471-2156"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["anvur-scientific","doaj","ki-jl-1","poland-100","vabb-shw"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321043","display_name":"Centro para el Desarrollo Tecnol\u00f3gico Industrial","ror":"https://ror.org/0124x7055"},{"id":"https://openalex.org/F4320321837","display_name":"Ministerio de Econom\u00eda y Competitividad","ror":"https://ror.org/034900433"},{"id":"https://openalex.org/F4320334923","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2078367679.pdf","grobid_xml":"https://content.openalex.org/works/W2078367679.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W6164871","https://openalex.org/W1495927634","https://openalex.org/W1535319945","https://openalex.org/W1591134372","https://openalex.org/W1970799201","https://openalex.org/W1980291961","https://openalex.org/W1984017781","https://openalex.org/W1994975332","https://openalex.org/W2000662971","https://openalex.org/W2015087800","https://openalex.org/W2023280658","https://openalex.org/W2033528471","https://openalex.org/W2034987906","https://openalex.org/W2037476500","https://openalex.org/W2042396822","https://openalex.org/W2043195510","https://openalex.org/W2047305722","https://openalex.org/W2049417498","https://openalex.org/W2059098302","https://openalex.org/W2063347806","https://openalex.org/W2070922495","https://openalex.org/W2072341533","https://openalex.org/W2085436555","https://openalex.org/W2088189726","https://openalex.org/W2103376319","https://openalex.org/W2110936983","https://openalex.org/W2112391462","https://openalex.org/W2124110971","https://openalex.org/W2127274931","https://openalex.org/W2131541488","https://openalex.org/W2153806919","https://openalex.org/W2156246099","https://openalex.org/W2159338138","https://openalex.org/W2165180719","https://openalex.org/W2168133698","https://openalex.org/W2168708748","https://openalex.org/W2320049655","https://openalex.org/W2634243099","https://openalex.org/W4252564070"],"related_works":["https://openalex.org/W2944155179","https://openalex.org/W3158593580","https://openalex.org/W2059403645","https://openalex.org/W2158088141","https://openalex.org/W7097475305","https://openalex.org/W2015586712","https://openalex.org/W4295887035","https://openalex.org/W1982026259","https://openalex.org/W2047612588","https://openalex.org/W3022493101"],"abstract_inverted_index":{"BACKGROUND:":[0],"Molecular":[1],"diagnosis":[2,52],"of":[3,24,32,53,62,70,78,81,86,88,99,138,174,202,212,223,243,253,263,269,296,304,317,326,338],"Inherited":[4],"Retinal":[5],"Dystrophies":[6],"(IRD)":[7],"has":[8],"long":[9],"been":[10],"challenging":[11],"due":[12],"to":[13,38,153,239],"the":[14,29,40,63,68,71,82,89,104,110,113,172,190,210,213,241,261,266,292,302,313,324,335],"extensive":[15],"clinical":[16,30,51],"and":[17,116,184,228,233,283,323],"genetic":[18,42],"heterogeneity":[19],"present":[20],"in":[21,44,67,92,103,109,119,156,180,192,199,216,248,257,308,320],"this":[22],"group":[23],"disorders.":[25,300],"Here,":[26],"we":[27,130],"describe":[28],"application":[31],"an":[33,275,281],"integrated":[34],"next-generation":[35],"sequencing":[36,61,77,134,236],"approach":[37,170,285],"determine":[39],"underlying":[41,128],"defects":[43],"a":[45,49,136,164,196,249,270],"Spanish":[46,321],"family":[47,83,121],"with":[48,189,205,274],"provisional":[50],"autosomal":[54],"recessive":[55],"Retinitis":[56],"Pigmentosa":[57],"(arRP).":[58],"RESULTS:":[59],"Exome":[60],"index":[64],"patient":[65],"resulted":[66],"identification":[69,173,252,303],"homozygous":[72],"BBS1":[73,114,229],"p.M390R":[74,90],"mutation.":[75],"Sanger":[76],"additional":[79],"members":[80],"showed":[84],"lack":[85],"co-segregation":[87],"variant":[91],"some":[93],"individuals.":[94],"Clinical":[95],"reanalysis":[96],"indicated":[97],"co-ocurrence":[98],"two":[100,175,244,254,309],"different":[101,245],"phenotypes":[102,247],"same":[105],"family:":[106],"Bardet-Biedl":[107],"syndrome":[108],"individual":[111],"harboring":[112],"mutation":[115,166,215],"non-syndromic":[117],"arRP":[118,193],"extended":[120],"members.":[122],"To":[123],"identify":[124],"possible":[125],"causative":[126],"mutations":[127,155,179,319,328],"arRP,":[129],"conducted":[131],"disease-targeted":[132],"gene":[133,234],"using":[135,148],"panel":[137,145,235],"26":[139],"IRD":[140,208],"genes.":[141,158],"The":[142,221,251],"in-house":[143],"custom":[144],"was":[146],"validated":[147],"18":[149],"DNA":[150],"samples":[151],"known":[152],"harbor":[154],"relevant":[157],"All":[159],"variants":[160,256,307],"were":[161],"redetected,":[162],"indicating":[163],"high":[165,315],"detection":[167],"rate.":[168],"This":[169],"allowed":[171],"novel":[176,255,306],"heterozygous":[177],"null":[178],"RP1":[181,227,258,318],"(c.4582_4585delATCA;":[182],"p.I1528Vfs*10":[183],"c.5962dupA;":[185],"p.I1988Nfs*3)":[186],"which":[187],"co-segregated":[188],"disease":[191],"patients.":[194],"Additionally,":[195],"mutational":[197,336],"screening":[198],"96":[200],"patients":[201],"our":[203],"cohort":[204],"genetically":[206],"unresolved":[207],"revealed":[209],"presence":[211],"c.5962dupA":[214],"one":[217],"unrelated":[218,310],"family.":[219,250],"CONCLUSIONS:":[220],"combination":[222],"molecular":[224],"findings":[225],"for":[226,329],"genes":[230,268],"through":[231],"exome":[232],"enabled":[237],"us":[238],"explain":[240],"co-existence":[242],"retinal":[246,299],"suggests":[259],"that":[260,286],"use":[262],"panels":[264],"containing":[265],"prevalent":[267],"particular":[271],"population,":[272],"together":[273],"optimized":[276],"data":[277],"analysis":[278],"pipeline,":[279],"is":[280],"efficient":[282],"cost-effective":[284],"can":[287],"be":[288],"reliably":[289],"implemented":[290],"into":[291],"routine":[293],"diagnostic":[294],"process":[295],"diverse":[297],"inherited":[298],"Moreover,":[301],"these":[305],"families":[311],"supports":[312],"relatively":[314],"prevalence":[316],"population":[322],"role":[325],"private":[327],"commonly":[330],"mutated":[331],"genes,":[332],"while":[333],"extending":[334],"spectrum":[337],"RP1.":[339]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
