{"id":"https://openalex.org/W2012838692","doi":"https://doi.org/10.1038/ejhg.2009.114","title":"Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects","display_name":"Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects","publication_year":2009,"publication_date":"2009-07-08","ids":{"openalex":"https://openalex.org/W2012838692","doi":"https://doi.org/10.1038/ejhg.2009.114","mag":"2012838692","pmid":"https://pubmed.ncbi.nlm.nih.gov/19584904","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2987167"},"language":"en","primary_location":{"id":"doi:10.1038/ejhg.2009.114","doi":"https://doi.org/10.1038/ejhg.2009.114","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.114","pdf_url":null,"source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2987167/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5000239053","display_name":"Esther Pomares","orcid":"https://orcid.org/0000-0002-3818-3303","observed_orcids":["https://orcid.org/0000-0002-3818-3303"]},"institutions":[{"id":"https://openalex.org/I4388891874","display_name":"Institut de Biomedicina de la Universitat de Barcelona","ror":"https://ror.org/01y43zx14","country_code":"ES","type":"education","lineage":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Esther Pomares","raw_affiliation_strings":["Departament de Gen\u00e8tica, Institut de Biomedicina, Universitat de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departament de Gen\u00e8tica, Institut de Biomedicina, Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016589606","display_name":"Marina Riera","orcid":"https://orcid.org/0000-0003-4294-6999","observed_orcids":["https://orcid.org/0000-0003-4294-6999"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"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/I4388891874","display_name":"Institut de Biomedicina de la Universitat de Barcelona","ror":"https://ror.org/01y43zx14","country_code":"ES","type":"education","lineage":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Marina Riera","raw_affiliation_strings":["CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013754408","display_name":"Jon Permanyer","orcid":"https://orcid.org/0000-0001-7641-4451","observed_orcids":["https://orcid.org/0000-0001-7641-4451"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"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/I4388891874","display_name":"Institut de Biomedicina de la Universitat de Barcelona","ror":"https://ror.org/01y43zx14","country_code":"ES","type":"education","lineage":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Jon Permanyer","raw_affiliation_strings":["CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090470413","display_name":"Pilar M\u00e9ndez","orcid":"https://orcid.org/0009-0000-4591-3557","observed_orcids":["https://orcid.org/0009-0000-4591-3557"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"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/I4388891874","display_name":"Institut de Biomedicina de la Universitat de Barcelona","ror":"https://ror.org/01y43zx14","country_code":"ES","type":"education","lineage":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Pilar M\u00e9ndez","raw_affiliation_strings":["CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026351109","display_name":"Joaqu\u00edn Castro-Navarro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210133994","display_name":"Hospital Universitario Central de Asturias","ror":"https://ror.org/03v85ar63","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2800212897","https://openalex.org/I4210133994","https://openalex.org/I4405258403"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Joaqu\u00edn Castro-Navarro","raw_affiliation_strings":["Servicio de Oftalmolog\u00eda, Unidad de Retina, Hospital Universitario Central de Asturias, Oviedo, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Servicio de Oftalmolog\u00eda, Unidad de Retina, Hospital Universitario Central de Asturias, Oviedo, Spain","institution_ids":["https://openalex.org/I4210133994"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057190608","display_name":"\u00c1ngeles Andr\u00e9s-Guti\u00e9rrez","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087461","display_name":"Hospital Universitario San Agust\u00edn","ror":"https://ror.org/003zecf96","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I2800212897","https://openalex.org/I4210087461","https://openalex.org/I4405258403"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"\u00c1ngeles Andr\u00e9s-Guti\u00e9rrez","raw_affiliation_strings":["Neurofisiolog\u00eda Cl\u00ednica, Hospital San Agust\u00edn, Avil\u00e9s, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurofisiolog\u00eda Cl\u00ednica, Hospital San Agust\u00edn, Avil\u00e9s, Spain","institution_ids":["https://openalex.org/I4210087461"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044733009","display_name":"Gemma Marfany","orcid":"https://orcid.org/0000-0001-7941-983X","observed_orcids":["https://orcid.org/0000-0001-7941-983X"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"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/I4388891874","display_name":"Institut de Biomedicina de la Universitat de Barcelona","ror":"https://ror.org/01y43zx14","country_code":"ES","type":"education","lineage":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"Gemma Marfany","raw_affiliation_strings":["CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5000505349","display_name":"Roser Gonz\u00e0lez\u2010Duarte","orcid":"https://orcid.org/0000-0003-0093-923X","observed_orcids":["https://orcid.org/0000-0003-0093-923X"]},"institutions":[{"id":"https://openalex.org/I2801357902","display_name":"Instituto de Salud Carlos III","ror":"https://ror.org/00ca2c886","country_code":"ES","type":"nonprofit","lineage":["https://openalex.org/I2801357902","https://openalex.org/I4387152914"]},{"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/I4388891874","display_name":"Institut de Biomedicina de la Universitat de Barcelona","ror":"https://ror.org/01y43zx14","country_code":"ES","type":"education","lineage":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]},{"id":"https://openalex.org/I71999127","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57","country_code":"ES","type":"education","lineage":["https://openalex.org/I71999127"]}],"countries":["ES"],"is_corresponding":true,"raw_author_name":"Roser Gonz\u00e0lez-Duarte","raw_affiliation_strings":["CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CIBERER, Instituto de Salud Carlos III, Barcelona, Spain","institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Departament de Gen\u00e8tica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I71999127"]},{"raw_affiliation_string":"IBUB (Institut de Biomedicina), Universitat de Barcelona, Barcelona, Spain","institution_ids":["https://openalex.org/I4388891874","https://openalex.org/I71999127"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5000505349"],"corresponding_institution_ids":["https://openalex.org/I2801357902","https://openalex.org/I4210111366","https://openalex.org/I4388891874","https://openalex.org/I71999127"],"apc_list":{"value":2790,"currency":"USD","value_usd":2790},"apc_paid":null,"fwci":4.4636,"has_fulltext":true,"cited_by_count":25,"citation_normalized_percentile":{"value":0.93631473,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"18","issue":"1","first_page":"118","last_page":"124"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9951000213623047,"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":0.9951000213623047,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.002199999988079071,"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/T12331","display_name":"Hereditary Neurological Disorders","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":1.0},{"id":"https://openalex.org/keywords/leber-congenital-amaurosis","display_name":"Leber congenital amaurosis","score":1.0},{"id":"https://openalex.org/keywords/snp-array","display_name":"SNP array","score":0.6359999775886536},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8539999723434448},{"id":"https://openalex.org/keywords/co-segregation-analysis","display_name":"co-segregation analysis","score":0.8190000057220459},{"id":"https://openalex.org/keywords/snp-haplotypes","display_name":"SNP haplotypes","score":0.8420000076293945},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.7710000276565552},{"id":"https://openalex.org/keywords/prpf31","display_name":"PRPF31","score":0.9279999732971191},{"id":"https://openalex.org/keywords/autosomal-dominant-retinitis-pigmentosa","display_name":"autosomal dominant retinitis pigmentosa","score":0.859000027179718},{"id":"https://openalex.org/keywords/autosomal-recessive-retinitis-pigmentosa","display_name":"autosomal recessive retinitis pigmentosa","score":0.9369999766349792},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.6309999823570251},{"id":"https://openalex.org/keywords/inherited-retinal-disease","display_name":"inherited retinal disease","score":0.5740000009536743}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.805324375629425},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7847377061843872},{"id":"https://openalex.org/C163691529","wikidata":"https://www.wikidata.org/wiki/Q7391886","display_name":"SNP genotyping","level":5,"score":0.72931969165802},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.6923491358757019},{"id":"https://openalex.org/C31467283","wikidata":"https://www.wikidata.org/wiki/Q912147","display_name":"Genotyping","level":4,"score":0.6814336776733398},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.574704110622406},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.5679908990859985},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.5534138083457947},{"id":"https://openalex.org/C22593422","wikidata":"https://www.wikidata.org/wiki/Q3242583","display_name":"Pedigree chart","level":3,"score":0.5106425881385803},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4975948631763458},{"id":"https://openalex.org/C139275648","wikidata":"https://www.wikidata.org/wiki/Q17134011","display_name":"SNP","level":5,"score":0.4901784062385559},{"id":"https://openalex.org/C122060243","wikidata":"https://www.wikidata.org/wiki/Q7391885","display_name":"SNP array","level":5,"score":0.4570375680923462},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4157450497150421},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.2120705544948578},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2096402943134308}],"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":"D005091","descriptor_name":"Exons","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005190","descriptor_name":"Family","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":"D005654","descriptor_name":"Fundus Oculi","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013030","descriptor_name":"Spain","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018703","descriptor_name":"Founder Effect","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D019683","descriptor_name":"Penetrance","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D057130","descriptor_name":"Leber Congenital Amaurosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D057130","descriptor_name":"Leber Congenital Amaurosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1038/ejhg.2009.114","doi":"https://doi.org/10.1038/ejhg.2009.114","is_oa":false,"landing_page_url":"https://doi.org/10.1038/ejhg.2009.114","pdf_url":null,"source":{"id":"https://openalex.org/S121703463","display_name":"European Journal of Human Genetics","issn_l":"1018-4813","issn":["1018-4813","1476-5438"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"European Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:19584904","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19584904","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":"European journal of human genetics : EJHG","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:2987167","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2987167/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:2987167","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC2987167/","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Eur J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320321837","display_name":"Ministerio de Econom\u00eda y Competitividad","ror":"https://ror.org/034900433"},{"id":"https://openalex.org/F4320323428","display_name":"Universitat de Barcelona","ror":"https://ror.org/021018s57"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W1489169434","https://openalex.org/W1508022627","https://openalex.org/W1966156338","https://openalex.org/W1967387655","https://openalex.org/W1970286448","https://openalex.org/W1980228755","https://openalex.org/W1989189540","https://openalex.org/W1992860553","https://openalex.org/W2006431055","https://openalex.org/W2012582259","https://openalex.org/W2036012055","https://openalex.org/W2100449026","https://openalex.org/W2113963038","https://openalex.org/W2128453886","https://openalex.org/W2139298839"],"related_works":["https://openalex.org/W1980228755","https://openalex.org/W3007369419","https://openalex.org/W2114986858","https://openalex.org/W2162345999","https://openalex.org/W2081660551","https://openalex.org/W3028867041","https://openalex.org/W2191428950","https://openalex.org/W1970799201","https://openalex.org/W2339469876","https://openalex.org/W2152652629"],"abstract_inverted_index":null,"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":7}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
