{"id":"https://openalex.org/W4399020439","doi":"https://doi.org/10.1186/s12911-024-02538-8","title":"Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies","display_name":"Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies","publication_year":2024,"publication_date":"2024-05-24","ids":{"openalex":"https://openalex.org/W4399020439","doi":"https://doi.org/10.1186/s12911-024-02538-8","pmid":"https://pubmed.ncbi.nlm.nih.gov/38789985"},"language":"en","primary_location":{"id":"doi:10.1186/s12911-024-02538-8","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12911-024-02538-8","pdf_url":"https://bmcmedinformdecismak.biomedcentral.com/counter/pdf/10.1186/s12911-024-02538-8","source":{"id":"https://openalex.org/S107516304","display_name":"BMC Medical Informatics and Decision Making","issn_l":"1472-6947","issn":["1472-6947"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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":"BMC Medical Informatics and Decision Making","raw_type":"journal-article"},"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcmedinformdecismak.biomedcentral.com/counter/pdf/10.1186/s12911-024-02538-8","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5002330670","display_name":"Carole Faviez","orcid":"https://orcid.org/0000-0002-1500-0236"},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210092322","display_name":"Centre de Recherche des Cordeliers","ror":"https://ror.org/00dmms154","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I39804081","https://openalex.org/I4210092322"]},{"id":"https://openalex.org/I4210091437","display_name":"Sorbonne Paris Cit\u00e9","ror":"https://ror.org/001z21q04","country_code":"FR","type":"other","lineage":["https://openalex.org/I4210091437"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Carole Faviez","raw_affiliation_strings":["Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France. carole.faviez@inserm.fr","HeKA, Inria Paris, Paris, F-75012, France. carole.faviez@inserm.fr","Universite Paris Cite, Paris, France. carole.faviez@inserm.fr","UPCit\u00e9 - Universit\u00e9 Paris Cit\u00e9 (85 boulevard Saint-Germain\r\n75006 Paris - France)","HeKA - Health data- and model- driven Knowledge Acquisition (France)","CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)"],"affiliations":[{"raw_affiliation_string":"Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France. carole.faviez@inserm.fr","institution_ids":[]},{"raw_affiliation_string":"HeKA, Inria Paris, Paris, F-75012, France. carole.faviez@inserm.fr","institution_ids":[]},{"raw_affiliation_string":"Universite Paris Cite, Paris, France. carole.faviez@inserm.fr","institution_ids":[]},{"raw_affiliation_string":"UPCit\u00e9 - Universit\u00e9 Paris Cit\u00e9 (85 boulevard Saint-Germain\r\n75006 Paris - France)","institution_ids":["https://openalex.org/I4210091437","https://openalex.org/I204730241"]},{"raw_affiliation_string":"HeKA - Health data- and model- driven Knowledge Acquisition (France)","institution_ids":[]},{"raw_affiliation_string":"CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)","institution_ids":["https://openalex.org/I4210092322"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100650025","display_name":"Xiaoyi Chen","orcid":"https://orcid.org/0000-0002-7378-5158"},"institutions":[{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"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/I1326498283","display_name":"Institut national de recherche en informatique et en automatique","ror":"https://ror.org/02kvxyf05","country_code":"FR","type":"funder","lineage":["https://openalex.org/I1326498283"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210092322","display_name":"Centre de Recherche des Cordeliers","ror":"https://ror.org/00dmms154","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I39804081","https://openalex.org/I4210092322"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Xiaoyi Chen","raw_affiliation_strings":["Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France","Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","HeKA, Inria Paris, Paris, F-75012, France","CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)","HeKA - Health data- and model- driven Knowledge Acquisition (France)","Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I204730241","https://openalex.org/I4210092322"]},{"raw_affiliation_string":"Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"HeKA, Inria Paris, Paris, F-75012, France","institution_ids":["https://openalex.org/I1326498283"]},{"raw_affiliation_string":"CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)","institution_ids":["https://openalex.org/I4210092322"]},{"raw_affiliation_string":"HeKA - Health data- and model- driven Knowledge Acquisition (France)","institution_ids":[]},{"raw_affiliation_string":"Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007065847","display_name":"Nicolas Garcelon","orcid":"https://orcid.org/0000-0002-3326-2811"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","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"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I4210092322","display_name":"Centre de Recherche des Cordeliers","ror":"https://ror.org/00dmms154","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I39804081","https://openalex.org/I4210092322"]},{"id":"https://openalex.org/I1326498283","display_name":"Institut national de recherche en informatique et en automatique","ror":"https://ror.org/02kvxyf05","country_code":"FR","type":"funder","lineage":["https://openalex.org/I1326498283"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicolas Garcelon","raw_affiliation_strings":["Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France","Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","HeKA, Inria Paris, Paris, F-75012, France","CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)","HeKA - Health data- and model- driven Knowledge Acquisition (France)","Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I204730241","https://openalex.org/I4210092322"]},{"raw_affiliation_string":"Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"HeKA, Inria Paris, Paris, F-75012, France","institution_ids":["https://openalex.org/I1326498283"]},{"raw_affiliation_string":"CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)","institution_ids":["https://openalex.org/I4210092322"]},{"raw_affiliation_string":"HeKA - Health data- and model- driven Knowledge Acquisition (France)","institution_ids":[]},{"raw_affiliation_string":"Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041514719","display_name":"Mohamad Zaidan","orcid":"https://orcid.org/0000-0002-6847-0821"},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4413047524"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mohamad Zaidan","raw_affiliation_strings":["Service de N\u00e9phrologie, Dialyse et Transplantation, H\u00f4pital Universitaire Bic\u00eatre, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Kremlin Bic\u00eatre, F-94270, France","H\u00f4pital Bic\u00eatre [AP-HP, Le Kremlin-Bic\u00eatre] (78 Rue du G\u00e9n\u00e9ral Leclerc 94270 Le Kremlin-Bic\u00eatre - France)"],"affiliations":[{"raw_affiliation_string":"Service de N\u00e9phrologie, Dialyse et Transplantation, H\u00f4pital Universitaire Bic\u00eatre, Assistance Publique-H\u00f4pitaux de Paris (AP-HP), Kremlin Bic\u00eatre, F-94270, France","institution_ids":["https://openalex.org/I4210162942","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"H\u00f4pital Bic\u00eatre [AP-HP, Le Kremlin-Bic\u00eatre] (78 Rue du G\u00e9n\u00e9ral Leclerc 94270 Le Kremlin-Bic\u00eatre - France)","institution_ids":["https://openalex.org/I4210162942","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046847255","display_name":"Katy Billot","orcid":null},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Katy Billot","raw_affiliation_strings":["Laboratory of Renal Hereditary Diseases, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)","H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Laboratory of Renal Hereditary Diseases, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017225626","display_name":"Friederike Petzold","orcid":"https://orcid.org/0000-0003-3530-2888"},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I926574661","display_name":"Leipzig University","ror":"https://ror.org/03s7gtk40","country_code":"DE","type":"education","lineage":["https://openalex.org/I926574661"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]}],"countries":["DE","FR"],"is_corresponding":false,"raw_author_name":"Friederike Petzold","raw_affiliation_strings":["Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany","Laboratory of Renal Hereditary Diseases, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)","Leipzig University / Universit\u00e4t Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)"],"affiliations":[{"raw_affiliation_string":"Division of Nephrology, University of Leipzig Medical Center, Leipzig, Germany","institution_ids":["https://openalex.org/I926574661"]},{"raw_affiliation_string":"Laboratory of Renal Hereditary Diseases, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)","institution_ids":["https://openalex.org/I154526488"]},{"raw_affiliation_string":"Leipzig University / Universit\u00e4t Leipzig (Augustusplatz 10, 04109 Leipzig, Allemagne - Germany)","institution_ids":["https://openalex.org/I926574661"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043351165","display_name":"Hassan Faour","orcid":null},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Hassan Faour","raw_affiliation_strings":["Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029586861","display_name":"Maxime Douillet","orcid":null},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Maxime Douillet","raw_affiliation_strings":["Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Data Science Platform, Universit\u00e9 Paris Cit\u00e9, Imagine Institute, INSERM UMR 1163, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068947363","display_name":"Jean\u2010Michel Rozet","orcid":"https://orcid.org/0000-0001-7951-7886"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jean-Michel Rozet","raw_affiliation_strings":["Laboratory of Genetics in Ophthalmology, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Laboratory of Genetics in Ophthalmology, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001767521","display_name":"Val\u00e9rie Cormier\u2010Daire","orcid":"https://orcid.org/0000-0002-2839-9856"},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Val\u00e9rie Cormier-Daire","raw_affiliation_strings":["Reference Centre for Constitutional Bone Diseases, laboratory of Osteochondrodysplasia, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","Service de m\u00e9decine g\u00e9nomique des maladies rares, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Reference Centre for Constitutional Bone Diseases, laboratory of Osteochondrodysplasia, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Service de m\u00e9decine g\u00e9nomique des maladies rares, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001445148","display_name":"Tania Atti\u00e9\u2010Bitach","orcid":"https://orcid.org/0000-0002-1155-3626"},"institutions":[{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Tania Atti\u00e9-Bitach","raw_affiliation_strings":["Service d'Histologie-Embryologie-Cytog\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Service d'Histologie-Embryologie-Cytog\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028202256","display_name":"Stanislas Lyonnet","orcid":"https://orcid.org/0000-0001-5426-9417"},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Stanislas Lyonnet","raw_affiliation_strings":["Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris Cit\u00e9, Paris, F-75015, France","Service de m\u00e9decine g\u00e9nomique des maladies rares, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris Cit\u00e9, Paris, F-75015, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"Service de m\u00e9decine g\u00e9nomique des maladies rares, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)","institution_ids":["https://openalex.org/I4210165077"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008639087","display_name":"Sophie Saunier","orcid":"https://orcid.org/0000-0002-1069-0047"},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Sophie Saunier","raw_affiliation_strings":["Laboratory of Renal Hereditary Diseases, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Laboratory of Renal Hereditary Diseases, Imagine Institute, INSERM UMR 1163, Universit\u00e9 Paris Cit\u00e9, Paris, F-75015, France","institution_ids":["https://openalex.org/I204730241","https://openalex.org/I154526488","https://openalex.org/I4210165077"]},{"raw_affiliation_string":"H\u00f4pital Necker - Enfants Malades [AP-HP] (149 Rue de S\u00e8vres 75015 Paris - France)","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"Equipe Inserm U1163  - Laboratoire des Maladies R\u00e9nales H\u00e9r\u00e9ditaires = Laboratory of Hereditary Kidney Diseases (B\u00e2timent Imagine - 24 boulevard du Montparnasse\r\n75015 Paris - France)","institution_ids":["https://openalex.org/I154526488"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5037397269","display_name":"Anita Burgun","orcid":"https://orcid.org/0000-0001-6855-4366"},"institutions":[{"id":"https://openalex.org/I204730241","display_name":"Universit\u00e9 Paris Cit\u00e9","ror":"https://ror.org/05f82e368","country_code":"FR","type":"education","lineage":["https://openalex.org/I204730241"]},{"id":"https://openalex.org/I1288880153","display_name":"H\u00f4pital Necker-Enfants Malades","ror":"https://ror.org/05tr67282","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I1288880153","https://openalex.org/I4210097159","https://openalex.org/I4210120235"]},{"id":"https://openalex.org/I4210161954","display_name":"D\u00e9partement d'Informatique","ror":"https://ror.org/05y6rqs46","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I1294671590","https://openalex.org/I1326498283","https://openalex.org/I2746051580","https://openalex.org/I29607241","https://openalex.org/I4210159245","https://openalex.org/I4210161954"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"funder","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210165077","display_name":"Institut des Maladies G\u00e9n\u00e9tiques Imagine","ror":"https://ror.org/05rq3rb55","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I4210100892","https://openalex.org/I4210165077"]},{"id":"https://openalex.org/I1326498283","display_name":"Institut national de recherche en informatique et en automatique","ror":"https://ror.org/02kvxyf05","country_code":"FR","type":"funder","lineage":["https://openalex.org/I1326498283"]},{"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/I4210092322","display_name":"Centre de Recherche des Cordeliers","ror":"https://ror.org/00dmms154","country_code":"FR","type":"facility","lineage":["https://openalex.org/I154526488","https://openalex.org/I204730241","https://openalex.org/I39804081","https://openalex.org/I4210092322"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"funder","lineage":["https://openalex.org/I4210097159"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Anita Burgun","raw_affiliation_strings":["Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France","Department of Medical Informatics, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","HeKA, Inria Paris, Paris, F-75012, France","HeKA - Health data- and model- driven Knowledge Acquisition (France)","Service d'informatique m\u00e9dicale et biostatistiques [CHU Necker] (149, rue de S\u00e8vres 75743 PARIS Cedex 15 - France)","CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)","Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)"],"affiliations":[{"raw_affiliation_string":"Centre de Recherche des Cordeliers, Sorbonne Universit\u00e9, INSERM, Universit\u00e9 Paris Cit\u00e9, Paris, F-75006, France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I39804081","https://openalex.org/I204730241","https://openalex.org/I4210092322"]},{"raw_affiliation_string":"Department of Medical Informatics, H\u00f4pital Necker-Enfants Malades, AP-HP, Paris, F-75015, France","institution_ids":["https://openalex.org/I1288880153","https://openalex.org/I4210097159"]},{"raw_affiliation_string":"HeKA, Inria Paris, Paris, F-75012, France","institution_ids":["https://openalex.org/I1326498283"]},{"raw_affiliation_string":"HeKA - Health data- and model- driven Knowledge Acquisition (France)","institution_ids":[]},{"raw_affiliation_string":"Service d'informatique m\u00e9dicale et biostatistiques [CHU Necker] (149, rue de S\u00e8vres 75743 PARIS Cedex 15 - France)","institution_ids":["https://openalex.org/I4210161954"]},{"raw_affiliation_string":"CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers (15 rue de l'Ecole de M\u00e9decine - B\u00e2timent B - \r\n75270 Paris Cedex 06 - France)","institution_ids":["https://openalex.org/I4210092322"]},{"raw_affiliation_string":"Imagine - U1163 - Imagine - Institut des maladies g\u00e9n\u00e9tiques (IHU) (IHU Imagine, \r\n156 rue de Vaugirard, 75015 PARIS \r\net \r\n24 Boulevard du Montparnasse, 75015 Paris - France)","institution_ids":["https://openalex.org/I4210165077"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":14,"corresponding_author_ids":["https://openalex.org/A5002330670"],"corresponding_institution_ids":["https://openalex.org/I204730241","https://openalex.org/I4210091437","https://openalex.org/I4210092322"],"apc_list":{"value":1570,"currency":"GBP","value_usd":1925},"apc_paid":{"value":1570,"currency":"GBP","value_usd":1925},"fwci":2.9102,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.90570931,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":90,"max":98},"biblio":{"volume":"24","issue":"1","first_page":"134","last_page":"134"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9976000189781189,"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"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.9976000189781189,"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9872000217437744,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9868999719619751,"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/ciliopathies","display_name":"Ciliopathies","score":0.9766817092895508},{"id":"https://openalex.org/keywords/health-informatics","display_name":"Health informatics","score":0.6239792108535767},{"id":"https://openalex.org/keywords/medicine","display_name":"Medicine","score":0.6143686771392822},{"id":"https://openalex.org/keywords/rare-disease","display_name":"Rare disease","score":0.511875331401825},{"id":"https://openalex.org/keywords/disease","display_name":"Disease","score":0.46290549635887146},{"id":"https://openalex.org/keywords/medical-diagnosis","display_name":"Medical diagnosis","score":0.45319828391075134},{"id":"https://openalex.org/keywords/phenotype","display_name":"Phenotype","score":0.2665818929672241},{"id":"https://openalex.org/keywords/pathology","display_name":"Pathology","score":0.2615819573402405},{"id":"https://openalex.org/keywords/public-health","display_name":"Public health","score":0.1881633698940277},{"id":"https://openalex.org/keywords/genetics","display_name":"Genetics","score":0.14072751998901367},{"id":"https://openalex.org/keywords/biology","display_name":"Biology","score":0.11709269881248474}],"concepts":[{"id":"https://openalex.org/C2910395002","wikidata":"https://www.wikidata.org/wiki/Q203031","display_name":"Ciliopathies","level":4,"score":0.9766817092895508},{"id":"https://openalex.org/C145642194","wikidata":"https://www.wikidata.org/wiki/Q870895","display_name":"Health informatics","level":3,"score":0.6239792108535767},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6143686771392822},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.511875331401825},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.46290549635887146},{"id":"https://openalex.org/C534262118","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Medical diagnosis","level":2,"score":0.45319828391075134},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2665818929672241},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.2615819573402405},{"id":"https://openalex.org/C138816342","wikidata":"https://www.wikidata.org/wiki/Q189603","display_name":"Public health","level":2,"score":0.1881633698940277},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.14072751998901367},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.11709269881248474},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000072661","descriptor_name":"Ciliopathies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020000","descriptor_name":"Decision Support Systems, Clinical","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D035583","descriptor_name":"Rare Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D057286","descriptor_name":"Electronic Health Records","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1186/s12911-024-02538-8","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12911-024-02538-8","pdf_url":"https://bmcmedinformdecismak.biomedcentral.com/counter/pdf/10.1186/s12911-024-02538-8","source":{"id":"https://openalex.org/S107516304","display_name":"BMC Medical Informatics and Decision Making","issn_l":"1472-6947","issn":["1472-6947"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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":"BMC Medical Informatics and Decision Making","raw_type":"journal-article"},{"id":"pmid:38789985","is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38789985","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,"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC medical informatics and decision making","raw_type":null},{"id":"pmh:oai:pubmedcentral.nih.gov:11127295","is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11127295","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"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":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Med Inform Decis Mak","raw_type":"Text"},{"id":"pmh:oai:HAL:hal-04685782v1","is_oa":true,"landing_page_url":"https://hal.science/hal-04685782","pdf_url":"https://hal.science/hal-04685782/document","source":{"id":"https://openalex.org/S4406922466","display_name":"SPIRE - Sciences Po Institutional REpository","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"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":"BMC Medical Informatics and Decision Making, 2024, 24 (1), pp.134. ⟨10.1186/s12911-024-02538-8⟩","raw_type":"Journal articles"},{"id":"pmh:oai:doaj.org/article:38d44f5fef63446fa67280a097ada0d1","is_oa":true,"landing_page_url":"https://doaj.org/article/38d44f5fef63446fa67280a097ada0d1","pdf_url":null,"source":{"id":"https://openalex.org/S112646816","display_name":"SHILAP Revista de lepidopterolog\u00eda","issn_l":"0300-5267","issn":["0300-5267","2340-4078"],"is_oa":true,"is_in_doaj":true,"is_core":false,"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Medical Informatics and Decision Making, Vol 24, Iss 1, Pp 1-12 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12911-024-02538-8","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12911-024-02538-8","pdf_url":"https://bmcmedinformdecismak.biomedcentral.com/counter/pdf/10.1186/s12911-024-02538-8","source":{"id":"https://openalex.org/S107516304","display_name":"BMC Medical Informatics and Decision Making","issn_l":"1472-6947","issn":["1472-6947"],"is_oa":true,"is_in_doaj":true,"is_core":true,"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":"BMC Medical Informatics and Decision Making","raw_type":"journal-article"},"sustainable_development_goals":[],"awards":[{"id":"https://openalex.org/G1164398694","display_name":null,"funder_award_id":"ANR-17-RHUS-0002","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G4687123093","display_name":null,"funder_award_id":"PE 3135/1-1","funder_id":"https://openalex.org/F4320320879","funder_display_name":"Deutsche Forschungsgemeinschaft"}],"funders":[{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320320883","display_name":"Agence Nationale de la Recherche","ror":"https://ror.org/00rbzpz17"}],"has_content":{"pdf":true,"grobid_xml":false},"content_urls":{"pdf":"https://content.openalex.org/works/W4399020439.pdf"},"referenced_works_count":66,"referenced_works":["https://openalex.org/W954754213","https://openalex.org/W2012361142","https://openalex.org/W2015698771","https://openalex.org/W2059313072","https://openalex.org/W2119412782","https://openalex.org/W2130011177","https://openalex.org/W2133063699","https://openalex.org/W2136410628","https://openalex.org/W2159583324","https://openalex.org/W2205534366","https://openalex.org/W2405275595","https://openalex.org/W2582743722","https://openalex.org/W2601828961","https://openalex.org/W2734540391","https://openalex.org/W2758723248","https://openalex.org/W2792007075","https://openalex.org/W2796531147","https://openalex.org/W2808672056","https://openalex.org/W2888930188","https://openalex.org/W2942077940","https://openalex.org/W2971130507","https://openalex.org/W2980804620","https://openalex.org/W2999840984","https://openalex.org/W3016389613","https://openalex.org/W3028088974","https://openalex.org/W3040385445","https://openalex.org/W3045543021","https://openalex.org/W3080395702","https://openalex.org/W3089086238","https://openalex.org/W3091983506","https://openalex.org/W3107150966","https://openalex.org/W3120118518","https://openalex.org/W3123647640","https://openalex.org/W3131647478","https://openalex.org/W3154100408","https://openalex.org/W3163032543","https://openalex.org/W3163968156","https://openalex.org/W3164362281","https://openalex.org/W3177944555","https://openalex.org/W3201854766","https://openalex.org/W3204906989","https://openalex.org/W3212549469","https://openalex.org/W4200595382","https://openalex.org/W4206698631","https://openalex.org/W4210598680","https://openalex.org/W4220989182","https://openalex.org/W4221005279","https://openalex.org/W4224981685","https://openalex.org/W4229078361","https://openalex.org/W4280633120","https://openalex.org/W4281480340","https://openalex.org/W4281613455","https://openalex.org/W4282837431","https://openalex.org/W4286489697","https://openalex.org/W4288749556","https://openalex.org/W4292633571","https://openalex.org/W4307717106","https://openalex.org/W4377091864","https://openalex.org/W4377696199","https://openalex.org/W4385448527","https://openalex.org/W4386533578","https://openalex.org/W4387763575","https://openalex.org/W4389317742","https://openalex.org/W4389498572","https://openalex.org/W4391722690","https://openalex.org/W6837780649"],"related_works":["https://openalex.org/W2117826325","https://openalex.org/W1823321684","https://openalex.org/W2147891716","https://openalex.org/W3112086815","https://openalex.org/W4311620332","https://openalex.org/W2153346893","https://openalex.org/W4400823856","https://openalex.org/W4245140877","https://openalex.org/W4401323762","https://openalex.org/W2505067099"],"abstract_inverted_index":{"Our":[0],"study":[1],"provides":[2],"insights":[3,25],"into":[4],"the":[5,38,49],"complexities":[6],"of":[7,40,51],"diagnosing":[8],"highly":[9],"heterogenous":[10],"rare":[11,45,55],"diseases":[12],"and":[13,63],"offers":[14],"lessons":[15],"derived":[16],"from":[17],"evaluation":[18],"existing":[19],"DSSs":[20],"in":[21],"real-world":[22],"settings.":[23],"These":[24],"are":[26],"not":[27],"only":[28],"beneficial":[29],"for":[30,37,42,69],"ciliopathy":[31],"diagnosis":[32,62],"but":[33],"also":[34],"hold":[35],"relevance":[36],"enhancement":[39],"DSS":[41],"various":[43],"complex":[44],"disorders,":[46],"by":[47],"guiding":[48],"development":[50],"more":[52,66],"clinically":[53],"relevant":[54],"disease":[56],"DSSs,":[57],"that":[58],"could":[59],"support":[60],"early":[61],"finally":[64],"make":[65],"patients":[67],"eligible":[68],"treatment.":[70]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":1}],"updated_date":"2026-03-05T09:29:38.588285","created_date":"2025-10-10T00:00:00"}