{"id":"https://openalex.org/W4224435247","doi":"https://doi.org/10.1186/s13023-022-02318-5","title":"The research output of rod-cone dystrophy genetics","display_name":"The research output of rod-cone dystrophy genetics","publication_year":2022,"publication_date":"2022-04-23","ids":{"openalex":"https://openalex.org/W4224435247","doi":"https://doi.org/10.1186/s13023-022-02318-5","pmid":"https://pubmed.ncbi.nlm.nih.gov/35461258","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9034540"},"language":"en","primary_location":{"id":"doi:10.1186/s13023-022-02318-5","doi":"https://doi.org/10.1186/s13023-022-02318-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-022-02318-5","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-022-02318-5","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-022-02318-5","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5016616074","display_name":"Lama Jaffal","orcid":"https://orcid.org/0000-0002-5419-8871","observed_orcids":["https://orcid.org/0000-0002-5419-8871"]},"institutions":[{"id":"https://openalex.org/I160368002","display_name":"Lebanese University","ror":"https://ror.org/05x6qnc69","country_code":"LB","type":"education","lineage":["https://openalex.org/I160368002"]},{"id":"https://openalex.org/I911468752","display_name":"Lebanese International University","ror":"https://ror.org/034agrd14","country_code":"LB","type":"education","lineage":["https://openalex.org/I911468752"]}],"countries":["LB"],"is_corresponding":false,"raw_author_name":"Lama Jaffal","raw_affiliation_strings":["Department of Biological and Chemical Sciences, School of Arts and Sciences, Lebanese International University, Beirut, Lebanon","Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological and Chemical Sciences, School of Arts and Sciences, Lebanese International University, Beirut, Lebanon","institution_ids":["https://openalex.org/I911468752"]},{"raw_affiliation_string":"Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon","institution_ids":["https://openalex.org/I160368002"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055593916","display_name":"Zamzam Mrad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I160368002","display_name":"Lebanese University","ror":"https://ror.org/05x6qnc69","country_code":"LB","type":"education","lineage":["https://openalex.org/I160368002"]}],"countries":["LB"],"is_corresponding":false,"raw_author_name":"Zamzam Mrad","raw_affiliation_strings":["Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon","institution_ids":["https://openalex.org/I160368002"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055712037","display_name":"Mariam Ibrahim","orcid":"https://orcid.org/0000-0001-6471-0237","observed_orcids":["https://orcid.org/0000-0001-6471-0237"]},"institutions":[{"id":"https://openalex.org/I160368002","display_name":"Lebanese University","ror":"https://ror.org/05x6qnc69","country_code":"LB","type":"education","lineage":["https://openalex.org/I160368002"]}],"countries":["LB"],"is_corresponding":false,"raw_author_name":"Mariam Ibrahim","raw_affiliation_strings":["Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rammal Hassan Rammal Research Laboratory, PhyToxE Research Group, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon","institution_ids":["https://openalex.org/I160368002"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030785404","display_name":"Ali Salami","orcid":"https://orcid.org/0000-0003-3343-4035","observed_orcids":["https://orcid.org/0000-0003-3343-4035","https://orcid.org/0000-0001-5926-6282"]},"institutions":[{"id":"https://openalex.org/I160368002","display_name":"Lebanese University","ror":"https://ror.org/05x6qnc69","country_code":"LB","type":"education","lineage":["https://openalex.org/I160368002"]}],"countries":["LB"],"is_corresponding":false,"raw_author_name":"Ali Salami","raw_affiliation_strings":["Department of Mathematics, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Mathematics, Faculty of Sciences, Lebanese University, Nabatieh, Lebanon","institution_ids":["https://openalex.org/I160368002"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021422523","display_name":"Isabelle S. Audo","orcid":"https://orcid.org/0000-0003-0698-5309","observed_orcids":["https://orcid.org/0000-0003-0698-5309"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I1340951533","display_name":"Institut de la Vision","ror":"https://ror.org/000zhpw23","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1340951533","https://openalex.org/I154526488","https://openalex.org/I39804081"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2801203653","display_name":"Centre hospitalier national d'ophtalmologie des Quinze-Vingts","ror":"https://ror.org/024v1ns19","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2801203653"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["FR","GB"],"is_corresponding":false,"raw_author_name":"Isabelle Audo","raw_affiliation_strings":["CHNO Des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France","Sorbonne Universit\u00e9, INSERM, CNRS, Institut de La Vision, Paris, France","University College London Institute of Ophthalmology, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"CHNO Des Quinze-Vingts, INSERM-DGOS CIC1423, Paris, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I2801203653"]},{"raw_affiliation_string":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de La Vision, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I1340951533","https://openalex.org/I154526488","https://openalex.org/I39804081"]},{"raw_affiliation_string":"University College London Institute of Ophthalmology, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077263630","display_name":"Christina Zeitz","orcid":"https://orcid.org/0000-0002-3510-1712","observed_orcids":["https://orcid.org/0000-0002-3510-1712"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I1340951533","display_name":"Institut de la Vision","ror":"https://ror.org/000zhpw23","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1340951533","https://openalex.org/I154526488","https://openalex.org/I39804081"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I39804081","display_name":"Sorbonne Universit\u00e9","ror":"https://ror.org/02en5vm52","country_code":"FR","type":"education","lineage":["https://openalex.org/I39804081"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christina Zeitz","raw_affiliation_strings":["Sorbonne Universit\u00e9, INSERM, CNRS, Institut de La Vision, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sorbonne Universit\u00e9, INSERM, CNRS, Institut de La Vision, Paris, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I1340951533","https://openalex.org/I154526488","https://openalex.org/I39804081"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032089630","display_name":"Sa\u00efd El Shamieh","orcid":"https://orcid.org/0000-0002-8522-0445","observed_orcids":["https://orcid.org/0000-0002-8522-0445"]},"institutions":[{"id":"https://openalex.org/I36314861","display_name":"Beirut Arab University","ror":"https://ror.org/02jya5567","country_code":"LB","type":"education","lineage":["https://openalex.org/I36314861"]}],"countries":["LB"],"is_corresponding":true,"raw_author_name":"Said El Shamieh","raw_affiliation_strings":["Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon. s.elshamieh@bau.edu.lb","Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon"],"raw_orcid":"https://orcid.org/0000-0002-8522-0445","affiliations":[{"raw_affiliation_string":"Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon. s.elshamieh@bau.edu.lb","institution_ids":["https://openalex.org/I36314861"]},{"raw_affiliation_string":"Department of Medical Laboratory Technology, Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon","institution_ids":["https://openalex.org/I36314861"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":9,"corresponding_author_ids":["https://openalex.org/A5032089630"],"corresponding_institution_ids":["https://openalex.org/I36314861"],"apc_list":{"value":2680,"currency":"USD","value_usd":2680},"apc_paid":{"value":2680,"currency":"USD","value_usd":2680},"fwci":0.3209,"has_fulltext":true,"cited_by_count":7,"citation_normalized_percentile":{"value":0.36645963,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"17","issue":"1","first_page":"175","last_page":"175"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10102","display_name":"scientometrics and bibliometrics research","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/3309","display_name":"Library and Information Sciences"},"field":{"id":"https://openalex.org/fields/33","display_name":"Social Sciences"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},"topics":[{"id":"https://openalex.org/T10102","display_name":"scientometrics and bibliometrics research","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/3309","display_name":"Library and Information Sciences"},"field":{"id":"https://openalex.org/fields/33","display_name":"Social Sciences"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}},{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.1469999998807907,"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/T13284","display_name":"Psychology Research and Bibliometrics","score":0.002400000113993883,"subfield":{"id":"https://openalex.org/subfields/3205","display_name":"Experimental and Cognitive Psychology"},"field":{"id":"https://openalex.org/fields/32","display_name":"Psychology"},"domain":{"id":"https://openalex.org/domains/2","display_name":"Social Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/retinitis-pigmentosa","display_name":"retinitis pigmentosa","score":0.9330000281333923},{"id":"https://openalex.org/keywords/inherited-retinal-disease","display_name":"inherited retinal disease","score":0.847000002861023},{"id":"https://openalex.org/keywords/research-output","display_name":"research output","score":0.7149999737739563},{"id":"https://openalex.org/keywords/research-productivity","display_name":"research productivity","score":0.6629999876022339},{"id":"https://openalex.org/keywords/human-development-index","display_name":"Human Development Index","score":0.9049999713897705},{"id":"https://openalex.org/keywords/publication-frequency","display_name":"publication frequency","score":0.6909999847412109},{"id":"https://openalex.org/keywords/citation-analysis","display_name":"citation analysis","score":0.847000002861023},{"id":"https://openalex.org/keywords/journal-quartiles","display_name":"journal quartiles","score":0.6330000162124634},{"id":"https://openalex.org/keywords/next-generation-sequencing","display_name":"next-generation sequencing","score":0.8870000243186951},{"id":"https://openalex.org/keywords/international-research-collaboration","display_name":"international research collaboration","score":0.7059999704360962},{"id":"https://openalex.org/keywords/research-capacity-gaps","display_name":"research capacity gaps","score":0.4129999876022339}],"concepts":[{"id":"https://openalex.org/C2779735493","wikidata":"https://www.wikidata.org/wiki/Q38994","display_name":"Human Development Index","level":3,"score":0.6595075130462646},{"id":"https://openalex.org/C68443243","wikidata":"https://www.wikidata.org/wiki/Q2786686","display_name":"Quartile","level":3,"score":0.5482022762298584},{"id":"https://openalex.org/C178315738","wikidata":"https://www.wikidata.org/wiki/Q603441","display_name":"Bibliometrics","level":2,"score":0.47604918479919434},{"id":"https://openalex.org/C191935318","wikidata":"https://www.wikidata.org/wiki/Q148","display_name":"China","level":2,"score":0.47110751271247864},{"id":"https://openalex.org/C204983608","wikidata":"https://www.wikidata.org/wiki/Q2111958","display_name":"Productivity","level":2,"score":0.4518992602825165},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4342949390411377},{"id":"https://openalex.org/C2778793908","wikidata":"https://www.wikidata.org/wiki/Q5122404","display_name":"Citation impact","level":3,"score":0.4159846007823944},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.4108917713165283},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.4053758680820465},{"id":"https://openalex.org/C2778805511","wikidata":"https://www.wikidata.org/wiki/Q1713","display_name":"Citation","level":2,"score":0.366976261138916},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3387240767478943},{"id":"https://openalex.org/C161191863","wikidata":"https://www.wikidata.org/wiki/Q199655","display_name":"Library science","level":1,"score":0.28525876998901367},{"id":"https://openalex.org/C50522688","wikidata":"https://www.wikidata.org/wiki/Q189833","display_name":"Economic growth","level":1,"score":0.205476313829422},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.19589567184448242},{"id":"https://openalex.org/C44249647","wikidata":"https://www.wikidata.org/wiki/Q208498","display_name":"Confidence interval","level":2,"score":0.1354566514492035},{"id":"https://openalex.org/C2781089502","wikidata":"https://www.wikidata.org/wiki/Q2917873","display_name":"Human development (humanity)","level":2,"score":0.13483628630638123},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.10411632061004639},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.09130653738975525},{"id":"https://openalex.org/C162324750","wikidata":"https://www.wikidata.org/wiki/Q8134","display_name":"Economics","level":0,"score":0.09107568860054016},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.08454909920692444},{"id":"https://openalex.org/C166957645","wikidata":"https://www.wikidata.org/wiki/Q23498","display_name":"Archaeology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000071700","descriptor_name":"Cone-Rod Dystrophies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002681","descriptor_name":"China","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006113","descriptor_name":"United Kingdom","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":"D007194","descriptor_name":"India","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007564","descriptor_name":"Japan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/s13023-022-02318-5","doi":"https://doi.org/10.1186/s13023-022-02318-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-022-02318-5","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-022-02318-5","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9034540","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9034540","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":"Orphanet J Rare Dis","raw_type":"Text"},{"id":"pmid:35461258","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35461258","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":"Orphanet journal of rare diseases","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:hal-03954594v1","doi":null,"is_oa":true,"landing_page_url":"https://cnrs.hal.science/hal-03954594","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet Journal of Rare Diseases, 2022, 17, &#x27E8;10.1186/s13023-022-02318-5&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:ef5259803b554c239ed519d52d50e673","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/ef5259803b554c239ed519d52d50e673","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s13023-022-02318-5","doi":"https://doi.org/10.1186/s13023-022-02318-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s13023-022-02318-5","pdf_url":"https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-022-02318-5","source":{"id":"https://openalex.org/S71291065","display_name":"Orphanet Journal of Rare Diseases","issn_l":"1750-1172","issn":["1750-1172"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Orphanet Journal of Rare Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.5774000287055969}],"study_designs":[],"awards":[{"id":"https://openalex.org/G5902945524","display_name":"Enabling Vision Restoration","funder_award_id":"ANR-18-IAHU-0001","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G6654833908","display_name":"Sorbonne Universit\u00e9s \u00e0 Paris pour l'Enseignement et la Recherche","funder_award_id":"ANR-11-IDEX-0004","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"}],"funders":[{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4224435247.pdf","grobid_xml":"https://content.openalex.org/works/W4224435247.grobid-xml"},"referenced_works_count":51,"referenced_works":["https://openalex.org/W1508544304","https://openalex.org/W1510756678","https://openalex.org/W1547836565","https://openalex.org/W1694010772","https://openalex.org/W1963729574","https://openalex.org/W1996194024","https://openalex.org/W2004611256","https://openalex.org/W2015911819","https://openalex.org/W2022776635","https://openalex.org/W2027057441","https://openalex.org/W2035191203","https://openalex.org/W2047292817","https://openalex.org/W2048505879","https://openalex.org/W2058180517","https://openalex.org/W2071651075","https://openalex.org/W2074931690","https://openalex.org/W2077800761","https://openalex.org/W2080496097","https://openalex.org/W2081232434","https://openalex.org/W2101861839","https://openalex.org/W2132250814","https://openalex.org/W2138758408","https://openalex.org/W2159834561","https://openalex.org/W2164777277","https://openalex.org/W2166516569","https://openalex.org/W2215283069","https://openalex.org/W2217131821","https://openalex.org/W2298000669","https://openalex.org/W2551461314","https://openalex.org/W2599726819","https://openalex.org/W2609146840","https://openalex.org/W2737639704","https://openalex.org/W2753967937","https://openalex.org/W2767944277","https://openalex.org/W2768985957","https://openalex.org/W2769129618","https://openalex.org/W2794716988","https://openalex.org/W2889940065","https://openalex.org/W2893285245","https://openalex.org/W2905262480","https://openalex.org/W2920632147","https://openalex.org/W2951149781","https://openalex.org/W2966325970","https://openalex.org/W3010181852","https://openalex.org/W3033436744","https://openalex.org/W3093707679","https://openalex.org/W3094117725","https://openalex.org/W3098714695","https://openalex.org/W3171303786","https://openalex.org/W3188379877","https://openalex.org/W4242181600"],"related_works":["https://openalex.org/W3098714695","https://openalex.org/W3180827759","https://openalex.org/W4311310242","https://openalex.org/W4284682827","https://openalex.org/W4293252910","https://openalex.org/W2584774518","https://openalex.org/W4404060436","https://openalex.org/W4409897939","https://openalex.org/W7203913889","https://openalex.org/W4244557100"],"abstract_inverted_index":{"Non-syndromic":[0],"rod-cone":[1],"dystrophy":[2],"(RCD)":[3],"is":[4,100],"the":[5,21,35,46,60,110,116,135,143,146,149,159,183,204,325,328],"most":[6],"common":[7],"condition":[8],"in":[9,66,103,123,175,209,227,233,240,252,261,267,277,279,287,289,294,296],"inherited":[10],"retinal":[11],"diseases.":[12],"The":[13,97,270],"aim":[14],"of":[15,48,62,109,115,134,142,207,224,257,304,327,347],"this":[16],"study":[17],"was":[18,275],"to":[19,27,54,306,310,349],"evaluate":[20],"research":[22,98],"output":[23,99],"and":[24,44,50,85,88,113,127,139,155,170,177,200,213,238,244,264,293,324,343,351,354],"productivity":[25],"related":[26],"RCD":[28,82],"genetics":[29],"per":[30,93],"countries":[31,70,107,119,130,180,216,221,247,323],"as":[32],"classified":[33],"by":[34,40],"human":[36],"development":[37],"index":[38],"(HDI),":[39],"analyzing":[41],"publication":[42,147,272],"frequency":[43],"citations,":[45],"choice":[47],"journals":[49,230,263],"publishers,":[51],"since":[52],"2000":[53],"date.":[55],"We":[56],"have":[57],"also":[58],"analyzed":[59],"use":[61],"next-generation":[63],"sequencing":[64],"(NGS)":[65],"publications":[67,112,208],"originating":[68],"from":[69],"with":[71,120,254,300],"different":[72],"HDIs.":[73],"One":[74],"thousand":[75],"four":[76],"hundred":[77],"articles":[78,90,137],"focusing":[79],"on":[80],"non-syndromic":[81],"were":[83,91,158,188],"downloaded":[84],"analyzed.":[86],"Citations":[87],"published":[89,131,222,260],"adjusted":[92],"one":[94],"million":[95],"individuals.":[96],"significantly":[101],"higher":[102],"very":[104,163,210,280,311,320],"high":[105,164,176,212,219,281,290,312,321],"HDI":[106,129,165,179,215,220,246,282,291,298,313,322],"(86%":[108],"total":[111,136],"95%":[114],"citations)":[117],"than":[118],"lower":[121],"HDIs":[122],"all":[124],"aspects.":[125],"High":[126,243],"medium":[128,178,214,245,297],"together":[132],"13.6%":[133],"worldwide":[138],"received":[140],"4.6%":[141],"citations.":[144],"On":[145,182],"level,":[148,185],"USA":[150],"(26%),":[151],"United":[152],"Kingdom":[153],"(10%),":[154],"Japan":[156],"(7%)":[157],"top":[160],"3":[161,305],"among":[162],"countries,":[166,283,292,299],"while":[167,284],"China":[168],"(6%)":[169],"India":[171],"(2%)":[172],"ranked":[173],"first":[174,228,271],"respectively.":[181,217],"citation":[184],"similar":[186,250],"profiles":[187],"found.":[189],"Following":[190],"adjustment":[191],"for":[192],"population":[193],"size,":[194],"Switzerland":[195],"(~14%),":[196],"Jordan":[197],"(~":[198],"1%)":[199],"Morocco":[201],"(<0.2%)":[202],"showed":[203,248],"highest":[205],"rates":[206],"high,":[211],"Very":[218],"71%":[223],"their":[225,258],"papers":[226,259],"quartile":[229,232],"(first":[231],"Scimago":[234],"journal":[235],"rank;":[236],"Q1),":[237],"23%":[239],"Q2":[241,268],"journals.":[242,269],"a":[249,301],"profile":[251],"quartiles":[253],"~":[255,265],"40%":[256],"Q1":[262],"30%":[266],"using":[273],"NGS":[274],"issued":[276],"2009":[278],"it":[285,332],"appeared":[286],"2012":[288],"2017":[295],"respective":[302],"lag":[303],"8":[307],"years":[308],"compared":[309],"countries.":[314],"A":[315],"profound":[316],"gap":[317],"exists":[318],"between":[319],"rest":[326],"world.":[329],"To":[330],"fill":[331],"in,":[333],"we":[334],"propose":[335],"implementing":[336],"NGS,":[337],"supporting":[338],"international":[339,355],"collaborations,":[340],"building":[341],"capacities":[342],"infrastructures,":[344],"improving":[345],"accessibility":[346],"patients":[348],"services,":[350],"increasing":[352],"national":[353],"funding.":[356]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":3},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-04-27T00:00:00"}
