{"id":"https://openalex.org/W2123330867","doi":"https://doi.org/10.1093/hmg/ddq284","title":"Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population","display_name":"Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population","publication_year":2010,"publication_date":"2010-07-20","ids":{"openalex":"https://openalex.org/W2123330867","doi":"https://doi.org/10.1093/hmg/ddq284","mag":"2123330867","pmid":"https://pubmed.ncbi.nlm.nih.gov/20647261","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935854"},"language":"en","primary_location":{"id":"doi:10.1093/hmg/ddq284","doi":"https://doi.org/10.1093/hmg/ddq284","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddq284","pdf_url":"https://academic.oup.com/hmg/article-pdf/19/19/3693/17249514/ddq284.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/hmg/article-pdf/19/19/3693/17249514/ddq284.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5038025912","display_name":"Emily I. Schindler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]},{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emily I. Schindler","raw_affiliation_strings":["Howard Hughes Medical Institute, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA","Department of Ophthalmology and Visual Sciences,","Howard Hughes Medical Institute,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Howard Hughes Medical Institute, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA 52242, USA","institution_ids":["https://openalex.org/I126307644","https://openalex.org/I1344073410"]},{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences,","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute,","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026066110","display_name":"Erik Lee Nylen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Erik L. Nylen","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences,","Department of Pediatrics and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences,","institution_ids":[]},{"raw_affiliation_string":"Department of Pediatrics and","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049766014","display_name":"Audrey C. Ko","orcid":"https://orcid.org/0000-0001-5915-1645","observed_orcids":["https://orcid.org/0000-0001-5915-1645"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Audrey C. Ko","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences,","Howard Hughes Medical Institute,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences,","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute,","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051495657","display_name":"Louisa M. Affatigato","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Louisa M. Affatigato","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences,","Howard Hughes Medical Institute,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences,","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute,","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056508469","display_name":"Andrew C. Heggen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrew C. Heggen","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences,","Howard Hughes Medical Institute,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences,","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute,","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Kai Wang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126307644","display_name":"University of Iowa","ror":"https://ror.org/036jqmy94","country_code":"US","type":"education","lineage":["https://openalex.org/I126307644"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kai Wang","raw_affiliation_strings":["Department of Biostatistics, University of Iowa, Iowa City, IA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biostatistics, University of Iowa, Iowa City, IA, USA","institution_ids":["https://openalex.org/I126307644"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048989892","display_name":"Val C. Sheffield","orcid":"https://orcid.org/0000-0002-6282-0835","observed_orcids":["https://orcid.org/0000-0002-6282-0835"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Val C. Sheffield","raw_affiliation_strings":["Department of Pediatrics and","Howard Hughes Medical Institute,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute,","institution_ids":["https://openalex.org/I1344073410"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5080924048","display_name":"Edwin M. Stone","orcid":"https://orcid.org/0000-0003-3343-4414","observed_orcids":["https://orcid.org/0000-0003-3343-4414"]},"institutions":[{"id":"https://openalex.org/I1344073410","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90","country_code":"US","type":"facility","lineage":["https://openalex.org/I1344073410"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Edwin M. Stone","raw_affiliation_strings":["Department of Ophthalmology and Visual Sciences,","Howard Hughes Medical Institute,"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Ophthalmology and Visual Sciences,","institution_ids":[]},{"raw_affiliation_string":"Howard Hughes Medical Institute,","institution_ids":["https://openalex.org/I1344073410"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5080924048"],"corresponding_institution_ids":["https://openalex.org/I1344073410"],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":{"value":4390,"currency":"USD","value_usd":4390},"fwci":2.4734,"has_fulltext":true,"cited_by_count":58,"citation_normalized_percentile":{"value":0.89361971,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":99},"biblio":{"volume":"19","issue":"19","first_page":"3693","last_page":"3701"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9965999722480774,"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":0.9965999722480774,"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":0.0010000000474974513,"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":0.00019999999494757503,"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/abca4","display_name":"ABCA4","score":0.9940000176429749},{"id":"https://openalex.org/keywords/recessive-alleles","display_name":"recessive alleles","score":0.7609999775886536},{"id":"https://openalex.org/keywords/stargardt-disease","display_name":"Stargardt disease","score":0.8870000243186951},{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.9980000257492065},{"id":"https://openalex.org/keywords/visual-acuity","display_name":"visual acuity","score":0.7860000133514404},{"id":"https://openalex.org/keywords/visual-field","display_name":"visual field","score":0.996999979019165},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7059999704360962},{"id":"https://openalex.org/keywords/modifying-factors","display_name":"modifying factors","score":0.5740000009536743},{"id":"https://openalex.org/keywords/outbred-populations","display_name":"outbred populations","score":0.6700000166893005}],"concepts":[{"id":"https://openalex.org/C2779460726","wikidata":"https://www.wikidata.org/wiki/Q21115224","display_name":"ABCA4","level":4,"score":0.9734382629394531},{"id":"https://openalex.org/C2780604041","wikidata":"https://www.wikidata.org/wiki/Q1317319","display_name":"Stargardt disease","level":3,"score":0.8723918795585632},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7949771881103516},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.7229442000389099},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6030495762825012},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.6016269326210022},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5717735886573792},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5042635202407837},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4781026244163513},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.4416669011116028},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10526195168495178},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.10333660244941711},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.09094402194023132},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005654","descriptor_name":"Fundus Oculi","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","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":"D012044","descriptor_name":"Regression Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012174","descriptor_name":"Retinitis Pigmentosa","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D013997","descriptor_name":"Time Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014792","descriptor_name":"Visual Acuity","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D014794","descriptor_name":"Visual Fields","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D018528","descriptor_name":"ATP-Binding Cassette Transporters","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D056726","descriptor_name":"Genetic Association Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1093/hmg/ddq284","doi":"https://doi.org/10.1093/hmg/ddq284","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddq284","pdf_url":"https://academic.oup.com/hmg/article-pdf/19/19/3693/17249514/ddq284.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:1999655","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935854","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","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:2935854","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/2935854","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","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hum Mol Genet","raw_type":"Text"},{"id":"pmid:20647261","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/20647261","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":"Human molecular genetics","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1093/hmg/ddq284","doi":"https://doi.org/10.1093/hmg/ddq284","is_oa":true,"landing_page_url":"https://doi.org/10.1093/hmg/ddq284","pdf_url":"https://academic.oup.com/hmg/article-pdf/19/19/3693/17249514/ddq284.pdf","source":{"id":"https://openalex.org/S166515463","display_name":"Human Molecular Genetics","issn_l":"0964-6906","issn":["0964-6906","1460-2083"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","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/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Molecular Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G7356002976","display_name":"Complex Mechanisms in Bardet-Biedl Syndrome Retinopathy","funder_award_id":"R01EY017168","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G7776417554","display_name":"Molecular Genetics of Age Related Macular Degeneration","funder_award_id":"R01EY016822","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G8169486174","display_name":"Medical Scientist Training Program","funder_award_id":"T32GM007337","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320306082","display_name":"Howard Hughes Medical Institute","ror":"https://ror.org/006w34k90"},{"id":"https://openalex.org/F4320306274","display_name":"Roy J. Carver Charitable Trust","ror":"https://ror.org/01ah2ch91"},{"id":"https://openalex.org/F4320306340","display_name":"Foundation Fighting Blindness","ror":"https://ror.org/011728q79"},{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2123330867.pdf","grobid_xml":"https://content.openalex.org/works/W2123330867.grobid-xml"},"referenced_works_count":44,"referenced_works":["https://openalex.org/W27009016","https://openalex.org/W162302830","https://openalex.org/W1525112357","https://openalex.org/W1558645663","https://openalex.org/W1573040585","https://openalex.org/W1964753793","https://openalex.org/W1965278510","https://openalex.org/W1974580639","https://openalex.org/W1991544676","https://openalex.org/W1991983956","https://openalex.org/W1994172606","https://openalex.org/W1998794025","https://openalex.org/W2002430842","https://openalex.org/W2010542360","https://openalex.org/W2013204245","https://openalex.org/W2016091108","https://openalex.org/W2022817398","https://openalex.org/W2027664346","https://openalex.org/W2029447605","https://openalex.org/W2031287535","https://openalex.org/W2032834555","https://openalex.org/W2032999356","https://openalex.org/W2037688965","https://openalex.org/W2043830439","https://openalex.org/W2044459153","https://openalex.org/W2049551972","https://openalex.org/W2052862871","https://openalex.org/W2056857501","https://openalex.org/W2072035377","https://openalex.org/W2080858733","https://openalex.org/W2096916467","https://openalex.org/W2123488727","https://openalex.org/W2124990143","https://openalex.org/W2125422830","https://openalex.org/W2131919747","https://openalex.org/W2144184852","https://openalex.org/W2150721942","https://openalex.org/W2153926132","https://openalex.org/W2154542338","https://openalex.org/W2154733247","https://openalex.org/W2161190592","https://openalex.org/W2626203798","https://openalex.org/W6631484893","https://openalex.org/W6633384617"],"related_works":["https://openalex.org/W7213368920","https://openalex.org/W3096147063","https://openalex.org/W2127855707","https://openalex.org/W2736861096","https://openalex.org/W2076129073","https://openalex.org/W2147560227","https://openalex.org/W4391424463","https://openalex.org/W4200133184","https://openalex.org/W7139599840","https://openalex.org/W2180115160"],"abstract_inverted_index":{"Accurate":[0],"prediction":[1],"of":[2,6,16,25,44,70,73,96,124,133,140,154,159],"the":[3,12,40,53,68,97,122,138,151],"pathogenic":[4,42],"effects":[5,92],"specific":[7,71],"genotypes":[8],"is":[9],"important":[10],"for":[11,22,29,156],"design":[13],"and":[14,105,115,146],"execution":[15],"clinical":[17,157],"trials":[18,158],"as":[19,21],"well":[20],"meaningful":[23],"counseling":[24],"individual":[26,45,119],"patients.":[27],"However,":[28],"many":[30],"autosomal":[31],"recessive":[32],"diseases,":[33],"it":[34],"can":[35],"be":[36],"difficult":[37],"to":[38,66,84],"deduce":[39],"relative":[41],"contribution":[43],"alleles":[46,72],"because":[47],"relatively":[48],"few":[49],"affected":[50],"individuals":[51],"share":[52],"same":[54],"two":[55,94,127],"disease-causing":[56],"variations.":[57],"In":[58],"this":[59,134],"study,":[60],"we":[61],"used":[62],"multiple":[63],"regression":[64],"analysis":[65,88],"estimate":[67],"pathogenicity":[69],"ABCA4":[74,144],"in":[75,118,150],"patients":[76,120],"with":[77],"retinal":[78],"phenotypes":[79],"ranging":[80],"from":[81],"Stargardt":[82],"disease":[83,145],"retinitis":[85],"pigmentosa.":[86],"This":[87],"revealed":[89],"quantitative":[90],"allelic":[91],"on":[93],"aspects":[95],"visual":[98,100,106,113,116],"phenotype,":[99],"acuity":[101,114],"(P":[102,108],"<":[103,109],"10(-3))":[104],"field":[107,117],"10(-7)).":[110],"Discordance":[111],"between":[112],"suggests":[121],"existence":[123],"at":[125],"least":[126],"non-ABCA4":[128],"modifying":[129],"factors.":[130],"The":[131],"findings":[132],"study":[135],"will":[136,147],"facilitate":[137],"discovery":[139],"factors":[141],"that":[142],"modify":[143],"also":[148],"aid":[149],"optimal":[152],"selection":[153],"subjects":[155],"new":[160],"therapies.":[161]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":7}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}