{"id":"https://openalex.org/W2017085212","doi":"https://doi.org/10.1016/0002-9394(80)90163-4","title":"Risk Factors for Genetic Typing and Detection in Retinitis Pigmentosa","display_name":"Risk Factors for Genetic Typing and Detection in Retinitis Pigmentosa","publication_year":1980,"publication_date":"1980-06-01","ids":{"openalex":"https://openalex.org/W2017085212","doi":"https://doi.org/10.1016/0002-9394(80)90163-4","mag":"2017085212","pmid":"https://pubmed.ncbi.nlm.nih.gov/6966889"},"language":"en","primary_location":{"id":"doi:10.1016/0002-9394(80)90163-4","doi":"https://doi.org/10.1016/0002-9394(80)90163-4","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0002-9394(80)90163-4","pdf_url":null,"source":{"id":"https://openalex.org/S50016660","display_name":"American Journal of Ophthalmology","issn_l":"0002-9394","issn":["0002-9394","1879-1891"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Ophthalmology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5015279657","display_name":"Eliot L. Berson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Eliot L. Berson","raw_affiliation_strings":["Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089191285","display_name":"BERNARD A. ROSNER","orcid":"https://orcid.org/0000-0001-6907-0056","observed_orcids":["https://orcid.org/0000-0001-6907-0056"]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bernard Rosner","raw_affiliation_strings":["Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5048073152","display_name":"Emily A. Simonoff","orcid":"https://orcid.org/0000-0002-5450-0823","observed_orcids":["https://orcid.org/0000-0002-5450-0823"]},"institutions":[{"id":"https://openalex.org/I1287163989","display_name":"Massachusetts Eye and Ear Infirmary","ror":"https://ror.org/04g3dn724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1287163989"]},{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emily Simonoff","raw_affiliation_strings":["Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts","institution_ids":["https://openalex.org/I1287163989","https://openalex.org/I136199984"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4300,"currency":"USD","value_usd":4300},"apc_paid":null,"fwci":1.6486,"has_fulltext":false,"cited_by_count":99,"citation_normalized_percentile":{"value":0.8249437,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":98},"biblio":{"volume":"89","issue":"6","first_page":"763","last_page":"775"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10170","display_name":"Retinal Diseases and Treatments","score":9.999999747378752e-05,"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":9.999999747378752e-05,"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":1.0},{"id":"https://openalex.org/keywords/genetic-classification","display_name":"genetic classification","score":0.9179999828338623},{"id":"https://openalex.org/keywords/autosomal-recessive-retinitis-pigmentosa","display_name":"autosomal recessive retinitis pigmentosa","score":0.8370000123977661},{"id":"https://openalex.org/keywords/x-linked-retinitis-pigmentosa","display_name":"X-linked retinitis pigmentosa","score":0.9369999766349792},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.6790000200271606},{"id":"https://openalex.org/keywords/best-corrected-visual-acuity","display_name":"best-corrected visual acuity","score":0.7910000085830688},{"id":"https://openalex.org/keywords/refractive-error","display_name":"refractive error","score":0.8820000290870667},{"id":"https://openalex.org/keywords/night-blindness","display_name":"night blindness","score":0.8339999914169312},{"id":"https://openalex.org/keywords/genetic-risk-prediction","display_name":"genetic risk prediction","score":0.4480000138282776},{"id":"https://openalex.org/keywords/family-screening","display_name":"family screening","score":0.42899999022483826}],"concepts":[{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.920917272567749},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6421193480491638},{"id":"https://openalex.org/C2778257484","wikidata":"https://www.wikidata.org/wiki/Q555066","display_name":"Visual acuity","level":2,"score":0.6213194727897644},{"id":"https://openalex.org/C2779923321","wikidata":"https://www.wikidata.org/wiki/Q774347","display_name":"Consanguinity","level":2,"score":0.593573808670044},{"id":"https://openalex.org/C2781135284","wikidata":"https://www.wikidata.org/wiki/Q470427","display_name":"Refractive error","level":3,"score":0.5473582148551941},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.5199176669120789},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.509743869304657},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3026871085166931},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.11152711510658264},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D002648","descriptor_name":"Child","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":"D005799","descriptor_name":"Genes, Dominant","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":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","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":"D008040","descriptor_name":"Genetic Linkage","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009755","descriptor_name":"Night Blindness","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D012030","descriptor_name":"Refractive Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012306","descriptor_name":"Risk","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014792","descriptor_name":"Visual Acuity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1016/0002-9394(80)90163-4","doi":"https://doi.org/10.1016/0002-9394(80)90163-4","is_oa":false,"landing_page_url":"https://doi.org/10.1016/0002-9394(80)90163-4","pdf_url":null,"source":{"id":"https://openalex.org/S50016660","display_name":"American Journal of Ophthalmology","issn_l":"0002-9394","issn":["0002-9394","1879-1891"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Ophthalmology","raw_type":"journal-article"},{"id":"pmid:6966889","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6966889","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":"American journal of ophthalmology","raw_type":"Journal Article"},{"id":"pmh:oai:kclpure.kcl.ac.uk:publications/6a2e6a66-fe60-4c31-adc7-e6ad4540ec56","doi":null,"is_oa":false,"landing_page_url":"https://kclpure.kcl.ac.uk/portal/en/publications/6a2e6a66-fe60-4c31-adc7-e6ad4540ec56","pdf_url":null,"source":{"id":"https://openalex.org/S4306400216","display_name":"Research Portal (King's College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I183935753","host_organization_name":"King's College London","host_organization_lineage":["https://openalex.org/I183935753"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Berson, E L, Rosner, B & Simonoff, E 1980, 'Risk factors for genetic typing and detection in retinitis pigmentosa', American Journal of Ophthalmology, vol. 89, no. 6, pp. 763-775. https://doi.org/10.1016/0002-9394(80)90163-4","raw_type":"info:eu-repo/semantics/publishedVersion"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9922999739646912,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W124644786","https://openalex.org/W2008396993","https://openalex.org/W2008449569","https://openalex.org/W2019271569","https://openalex.org/W2038252730","https://openalex.org/W2043394051","https://openalex.org/W2093407187","https://openalex.org/W2095242545","https://openalex.org/W2156426916","https://openalex.org/W2485920528","https://openalex.org/W2503343720","https://openalex.org/W2764728888","https://openalex.org/W4226240924"],"related_works":["https://openalex.org/W2915544620","https://openalex.org/W2068504296","https://openalex.org/W4380683351","https://openalex.org/W2042873540","https://openalex.org/W2982492099","https://openalex.org/W2122295650","https://openalex.org/W2521849430","https://openalex.org/W3029693998","https://openalex.org/W2025768188","https://openalex.org/W1506748339"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":2},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":5},{"year":2020,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
