{"id":"https://openalex.org/W3132069990","doi":"https://doi.org/10.3390/ijms22042187","title":"Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa","display_name":"Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa","publication_year":2021,"publication_date":"2021-02-22","ids":{"openalex":"https://openalex.org/W3132069990","doi":"https://doi.org/10.3390/ijms22042187","mag":"3132069990","pmid":"https://pubmed.ncbi.nlm.nih.gov/33671757","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7927044"},"language":"en","primary_location":{"id":"doi:10.3390/ijms22042187","doi":"https://doi.org/10.3390/ijms22042187","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms22042187","pdf_url":"https://www.mdpi.com/1422-0067/22/4/2187/pdf?version=1614172257","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.mdpi.com/1422-0067/22/4/2187/pdf?version=1614172257","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5088468386","display_name":"Caroline Cazin","orcid":"https://orcid.org/0000-0001-8962-3447","observed_orcids":["https://orcid.org/0000-0001-8962-3447"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2800555055","display_name":"Centre Hospitalier Universitaire de Grenoble","ror":"https://ror.org/041rhpw39","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Caroline Cazin","raw_affiliation_strings":["Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","UM GI-DPI, CHU Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":"https://orcid.org/0000-0001-8962-3447","affiliations":[{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"raw_affiliation_string":"UM GI-DPI, CHU Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I2800555055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087878285","display_name":"Yasmine Boumerdassi","orcid":"https://orcid.org/0000-0003-2381-443X","observed_orcids":["https://orcid.org/0000-0003-2381-443X"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Yasmine Boumerdassi","raw_affiliation_strings":["Department of Reproductive Biology, H\u00f4pital Jean Verdier, Assistance Publique, H\u00f4pitaux de Paris, F-75004 Paris, France"],"raw_orcid":"https://orcid.org/0000-0003-2381-443X","affiliations":[{"raw_affiliation_string":"Department of Reproductive Biology, H\u00f4pital Jean Verdier, Assistance Publique, H\u00f4pitaux de Paris, F-75004 Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036547398","display_name":"Guillaume Martinez","orcid":"https://orcid.org/0000-0002-7572-9096","observed_orcids":["https://orcid.org/0000-0002-7572-9096"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2800555055","display_name":"Centre Hospitalier Universitaire de Grenoble","ror":"https://ror.org/041rhpw39","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Guillaume Martinez","raw_affiliation_strings":["Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","UM de G\u00e9n\u00e9tique Chromosomique, CHU Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"raw_affiliation_string":"UM de G\u00e9n\u00e9tique Chromosomique, CHU Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I2800555055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080036129","display_name":"S\u00e9lima Fourati Ben Mustapha","orcid":"https://orcid.org/0000-0002-0107-6440","observed_orcids":["https://orcid.org/0000-0002-0107-6440"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Selima Fourati Ben Mustapha","raw_affiliation_strings":["Centre d\u2019Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Polyclinique les Jasmin, Centre Urbain Nord, Tunis 1003, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre d\u2019Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Polyclinique les Jasmin, Centre Urbain Nord, Tunis 1003, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078415746","display_name":"Marjorie Whitfield","orcid":"https://orcid.org/0000-0001-7956-3436","observed_orcids":["https://orcid.org/0000-0001-7956-3436"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marjorie Whitfield","raw_affiliation_strings":["Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042241430","display_name":"Charles Coutton","orcid":"https://orcid.org/0000-0002-8873-8098","observed_orcids":["https://orcid.org/0000-0002-8873-8098"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","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":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Charles Coutton","raw_affiliation_strings":["Department of Reproductive Biology, H\u00f4pital Jean Verdier, Assistance Publique, H\u00f4pitaux de Paris, F-75004 Paris, France","Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Reproductive Biology, H\u00f4pital Jean Verdier, Assistance Publique, H\u00f4pitaux de Paris, F-75004 Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]},{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050714674","display_name":"Nicolas Thierry\u2010Mieg","orcid":"https://orcid.org/0000-0002-7667-2853","observed_orcids":["https://orcid.org/0000-0002-7667-2853"]},"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/I4210136308","display_name":"Translational Innovation in Medicine and Complexity","ror":"https://ror.org/03985kf35","country_code":"FR","type":"facility","lineage":["https://openalex.org/I106785703","https://openalex.org/I1294671590","https://openalex.org/I4210095849","https://openalex.org/I4210104684","https://openalex.org/I4210136308","https://openalex.org/I4210159245","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nicolas Thierry-Mieg","raw_affiliation_strings":["TIMC-IMAG, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"TIMC-IMAG, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I4210136308","https://openalex.org/I899635006"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083312062","display_name":"Pierre Di Pizio","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210108433","display_name":"Cecos","ror":"https://ror.org/01w9crx19","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210108433"]},{"id":"https://openalex.org/I62396329","display_name":"Universit\u00e9 de Rouen Normandie","ror":"https://ror.org/03nhjew95","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210105918","https://openalex.org/I62396329"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pierre Di Pizio","raw_affiliation_strings":["EA 4308 \u2018Gametogenesis and Gamete Quality, Normandie University, UNIROUEN, F-76000 Rouen, France","Reproductive Biology Laboratory-CECOS, Assisted Reproductive Center, Rouen Normandy University Hospital, F-76000 Rouen, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"EA 4308 \u2018Gametogenesis and Gamete Quality, Normandie University, UNIROUEN, F-76000 Rouen, France","institution_ids":["https://openalex.org/I62396329"]},{"raw_affiliation_string":"Reproductive Biology Laboratory-CECOS, Assisted Reproductive Center, Rouen Normandy University Hospital, F-76000 Rouen, France","institution_ids":["https://openalex.org/I4210108433","https://openalex.org/I62396329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016681742","display_name":"Nathalie Rives","orcid":"https://orcid.org/0000-0001-9102-1111","observed_orcids":["https://orcid.org/0000-0001-9102-1111"]},"institutions":[{"id":"https://openalex.org/I4210108433","display_name":"Cecos","ror":"https://ror.org/01w9crx19","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210108433"]},{"id":"https://openalex.org/I62396329","display_name":"Universit\u00e9 de Rouen Normandie","ror":"https://ror.org/03nhjew95","country_code":"FR","type":"education","lineage":["https://openalex.org/I4210105918","https://openalex.org/I62396329"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Nathalie Rives","raw_affiliation_strings":["EA 4308 \u2018Gametogenesis and Gamete Quality, Normandie University, UNIROUEN, F-76000 Rouen, France","Reproductive Biology Laboratory-CECOS, Assisted Reproductive Center, Rouen Normandy University Hospital, F-76000 Rouen, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"EA 4308 \u2018Gametogenesis and Gamete Quality, Normandie University, UNIROUEN, F-76000 Rouen, France","institution_ids":["https://openalex.org/I62396329"]},{"raw_affiliation_string":"Reproductive Biology Laboratory-CECOS, Assisted Reproductive Center, Rouen Normandy University Hospital, F-76000 Rouen, France","institution_ids":["https://openalex.org/I4210108433","https://openalex.org/I62396329"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064642133","display_name":"Christophe Arnoult","orcid":"https://orcid.org/0000-0002-3753-5901","observed_orcids":["https://orcid.org/0000-0002-3753-5901","https://orcid.org/0000-0003-3255-5214"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christophe Arnoult","raw_affiliation_strings":["Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015131312","display_name":"Aminata Tour\u00e9","orcid":"https://orcid.org/0000-0001-5629-849X","observed_orcids":["https://orcid.org/0000-0001-5629-849X"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Aminata Tour\u00e9","raw_affiliation_strings":["Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":"https://orcid.org/0000-0001-5629-849X","affiliations":[{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001457323","display_name":"Pierre F. Ray","orcid":"https://orcid.org/0000-0003-1544-7449","observed_orcids":["https://orcid.org/0000-0003-1544-7449"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2800555055","display_name":"Centre Hospitalier Universitaire de Grenoble","ror":"https://ror.org/041rhpw39","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Pierre F. Ray","raw_affiliation_strings":["Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","UM GI-DPI, CHU Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":"https://orcid.org/0000-0003-1544-7449","affiliations":[{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"raw_affiliation_string":"UM GI-DPI, CHU Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I2800555055"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050777790","display_name":"Raoudha Zouari","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Raoudha Zouari","raw_affiliation_strings":["Centre d\u2019Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Polyclinique les Jasmin, Centre Urbain Nord, Tunis 1003, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre d\u2019Aide M\u00e9dicale \u00e0 la Procr\u00e9ation, Polyclinique les Jasmin, Centre Urbain Nord, Tunis 1003, Tunisia","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078279711","display_name":"Christophe Sifer","orcid":"https://orcid.org/0000-0002-2736-3800","observed_orcids":["https://orcid.org/0000-0002-2736-3800"]},"institutions":[{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210149664","display_name":"H\u00f4pital Jean-Verdier","ror":"https://ror.org/04pag4b70","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Christophe Sifer","raw_affiliation_strings":["Department of Reproductive Biology, H\u00f4pital Jean Verdier, Assistance Publique, H\u00f4pitaux de Paris, F-75004 Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Reproductive Biology, H\u00f4pital Jean Verdier, Assistance Publique, H\u00f4pitaux de Paris, F-75004 Paris, France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210149664"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5069757119","display_name":"Zine\u2010Eddine Kherraf","orcid":"https://orcid.org/0000-0003-0351-6689","observed_orcids":["https://orcid.org/0000-0003-0351-6689"]},"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/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I2800555055","display_name":"Centre Hospitalier Universitaire de Grenoble","ror":"https://ror.org/041rhpw39","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I2800555055"]},{"id":"https://openalex.org/I4210160510","display_name":"Institut pour l'avanc\u00e9e des biosciences","ror":"https://ror.org/05kwbf598","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210128919","https://openalex.org/I4210139971","https://openalex.org/I4210150872","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"id":"https://openalex.org/I899635006","display_name":"Universit\u00e9 Grenoble Alpes","ror":"https://ror.org/02rx3b187","country_code":"FR","type":"education","lineage":["https://openalex.org/I899635006"]}],"countries":["FR"],"is_corresponding":true,"raw_author_name":"Zine-Eddine Kherraf","raw_affiliation_strings":["Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","UM GI-DPI, CHU Grenoble Alpes, F-38000 Grenoble, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute for Advanced Biosciences, INSERM, CNRS, Universit\u00e9 Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4210160510","https://openalex.org/I899635006"]},{"raw_affiliation_string":"UM GI-DPI, CHU Grenoble Alpes, F-38000 Grenoble, France","institution_ids":["https://openalex.org/I2800555055"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":10,"corresponding_author_ids":["https://openalex.org/A5069757119"],"corresponding_institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I2800555055","https://openalex.org/I4210160510","https://openalex.org/I899635006"],"apc_list":{"value":2000,"currency":"CHF","value_usd":2160},"apc_paid":{"value":1666,"currency":"EUR","value_usd":1796},"fwci":1.5294,"has_fulltext":true,"cited_by_count":17,"citation_normalized_percentile":{"value":0.78083619,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"22","issue":"4","first_page":"2187","last_page":"2187"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10116","display_name":"Sperm and Testicular Function","score":0.9945999979972839,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10116","display_name":"Sperm and Testicular Function","score":0.9945999979972839,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive 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/T11642","display_name":"Genomics and Rare Diseases","score":0.00139999995008111,"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":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/acephalic-spermatozoa-syndrome","display_name":"acephalic spermatozoa syndrome","score":0.9890000224113464},{"id":"https://openalex.org/keywords/teratozoospermia","display_name":"teratozoospermia","score":0.9539999961853027},{"id":"https://openalex.org/keywords/homozygous-frameshift-variant","display_name":"homozygous frameshift mutation","score":0.8320000171661377},{"id":"https://openalex.org/keywords/male-infertility","display_name":"male infertility","score":0.859000027179718},{"id":"https://openalex.org/keywords/intracytoplasmic-sperm-injection","display_name":"intracytoplasmic sperm injection","score":0.8299999833106995},{"id":"https://openalex.org/keywords/north-african-populations","display_name":"North African populations","score":0.7839999794960022},{"id":"https://openalex.org/keywords/genotyping","display_name":"genotyping","score":0.5389999747276306}],"concepts":[{"id":"https://openalex.org/C2781087480","wikidata":"https://www.wikidata.org/wiki/Q17145","display_name":"Sperm","level":2,"score":0.7692269086837769},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7327492833137512},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.5627965331077576},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5243982672691345},{"id":"https://openalex.org/C2777338322","wikidata":"https://www.wikidata.org/wiki/Q280156","display_name":"Male infertility","level":4,"score":0.5005581378936768},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.44236689805984497},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3728712797164917},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.32149726152420044},{"id":"https://openalex.org/C2777688143","wikidata":"https://www.wikidata.org/wiki/Q179399","display_name":"Infertility","level":3,"score":0.2590405344963074},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.19867897033691406},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.06364047527313232}],"mesh":[{"descriptor_ui":"D000072660","descriptor_name":"Teratozoospermia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000352","descriptor_name":"Africa, Northern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000782","descriptor_name":"Aneuploidy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013094","descriptor_name":"Spermatozoa","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013094","descriptor_name":"Spermatozoa","qualifier_ui":"Q000502","qualifier_name":"physiology","is_major_topic":false},{"descriptor_ui":"D013094","descriptor_name":"Spermatozoa","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":true},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016022","descriptor_name":"Case-Control Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.3390/ijms22042187","doi":"https://doi.org/10.3390/ijms22042187","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms22042187","pdf_url":"https://www.mdpi.com/1422-0067/22/4/2187/pdf?version=1614172257","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7927044","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7927044","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":"Int J Mol Sci","raw_type":"Text"},{"id":"pmid:33671757","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33671757","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":"International journal of molecular sciences","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:hal-03365058v1","doi":null,"is_oa":true,"landing_page_url":"https://hal.science/hal-03365058","pdf_url":"https://hal.science/hal-03365058/document","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":"International Journal of Molecular Sciences, 2021, 22 (4), pp.2187. &#x27E8;10.3390/ijms22042187&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:9f8346bb6ae3439db1d9df6fff45725a","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/9f8346bb6ae3439db1d9df6fff45725a","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":"International Journal of Molecular Sciences, Vol 22, Iss 2187, p 2187 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/ijms22042187","doi":"https://doi.org/10.3390/ijms22042187","is_oa":true,"landing_page_url":"https://doi.org/10.3390/ijms22042187","pdf_url":"https://www.mdpi.com/1422-0067/22/4/2187/pdf?version=1614172257","source":{"id":"https://openalex.org/S10623703","display_name":"International Journal of Molecular Sciences","issn_l":"1422-0067","issn":["1422-0067","1661-6596"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","medline","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Molecular Sciences","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9391000270843506,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1927289669","display_name":"Understanding cilia and flagella diversity","funder_award_id":"ANR-17-CE13-0023","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G2221654118","display_name":"Fundamental, genetic and clinical aspects of male infertility due to severe sperm flagellar abnormalities","funder_award_id":"ANR-19-CE17-0014","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G3010527862","display_name":null,"funder_award_id":"ANR\u201019","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G6803667113","display_name":null,"funder_award_id":"ANR-17","funder_id":"https://openalex.org/F4320320883","funder_display_name":"Agence Nationale de la Recherche"},{"id":"https://openalex.org/G8967381738","display_name":null,"funder_award_id":"CE17-0014","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"},{"id":"https://openalex.org/F4320320893","display_name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","ror":"https://ror.org/02vjkv261"},{"id":"https://openalex.org/F4320322892","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73"},{"id":"https://openalex.org/F4320323296","display_name":"Universit\u00e9 Paris Descartes","ror":"https://ror.org/0220k9r37"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3132069990.pdf","grobid_xml":"https://content.openalex.org/works/W3132069990.grobid-xml"},"referenced_works_count":40,"referenced_works":["https://openalex.org/W1522536942","https://openalex.org/W1756759128","https://openalex.org/W2018210037","https://openalex.org/W2022177992","https://openalex.org/W2022455910","https://openalex.org/W2055859834","https://openalex.org/W2083445028","https://openalex.org/W2095680943","https://openalex.org/W2103441770","https://openalex.org/W2108234281","https://openalex.org/W2123749757","https://openalex.org/W2132378736","https://openalex.org/W2147631681","https://openalex.org/W2159902645","https://openalex.org/W2162493325","https://openalex.org/W2172289055","https://openalex.org/W2417483443","https://openalex.org/W2518975446","https://openalex.org/W2533955468","https://openalex.org/W2619493022","https://openalex.org/W2755934757","https://openalex.org/W2758706445","https://openalex.org/W2782108629","https://openalex.org/W2783248792","https://openalex.org/W2784243792","https://openalex.org/W2800871315","https://openalex.org/W2867868648","https://openalex.org/W2883636371","https://openalex.org/W2890416342","https://openalex.org/W2896493867","https://openalex.org/W2944835126","https://openalex.org/W2951912016","https://openalex.org/W2969852023","https://openalex.org/W3000595084","https://openalex.org/W3004740533","https://openalex.org/W3016008429","https://openalex.org/W3024482898","https://openalex.org/W3096795973","https://openalex.org/W4247053599","https://openalex.org/W6738832367"],"related_works":["https://openalex.org/W3155794458","https://openalex.org/W2518975446","https://openalex.org/W4411466753","https://openalex.org/W3122560228","https://openalex.org/W4412923306","https://openalex.org/W3176266195","https://openalex.org/W2783248792","https://openalex.org/W4283742138","https://openalex.org/W6976627366","https://openalex.org/W2619493022"],"abstract_inverted_index":{"Acephalic":[0],"spermatozoa":[1,220],"syndrome":[2],"(ASS)":[3],"is":[4,46,156,250],"a":[5,18,24,41,67,144,179,200,205,213,262],"rare":[6],"but":[7,87],"extremely":[8],"severe":[9,36],"type":[10],"of":[11,17,20,26,69,151,161,182,189,216,254,267,277],"teratozoospermia,":[12],"defined":[13],"by":[14,50],"the":[15,31,34,131,148,152,159,162,165,186,190,239,246,251,257,268],"presence":[16],"majority":[19],"headless":[21],"flagella":[22],"and":[23,45,56,85,105,204,264],"minority":[25],"tail-less":[27],"sperm":[28,118,166,172,230],"heads":[29],"in":[30,53,79,83,111,138,219,256],"ejaculate.":[32],"Like":[33],"other":[35],"monomorphic":[37],"teratozoospermias,":[38],"ASS":[39,255],"has":[40],"strong":[42],"genetic":[43,98,286],"basis":[44],"most":[47],"often":[48],"caused":[49],"bi-allelic":[51],"variants":[52,99],"SUN5":[54,133,142,222,248],"(Sad1":[55],"UNC84":[57],"domain-containing":[58],"5).":[59],"Using":[60],"whole":[61],"exome":[62],"sequencing":[63],"(WES),":[64],"we":[65],"investigated":[66],"cohort":[68],"nine":[70],"infertile":[71],"subjects":[72,76,95,177],"displaying":[73],"ASS.":[74],"These":[75,242],"were":[77,100],"recruited":[78],"three":[80,175],"centers":[81],"located":[82],"France":[84],"Tunisia,":[86],"all":[88],"originated":[89],"from":[90,94,174,221],"North":[91,258,278],"Africa.":[92],"Sperm":[93],"carrying":[96,238],"candidate":[97],"subjected":[101],"to":[102,120,129,164,225,283],"immunofluorescence":[103],"analysis":[104],"transmission":[106],"electron":[107,197],"microscopy.":[108],"Moreover,":[109],"fluorescent":[110],"situ":[112],"hybridization":[113],"(FISH)":[114],"was":[115],"performed":[116,170],"on":[117,147,171,193],"nuclei":[119],"assess":[121],"their":[122],"chromosomal":[123],"content.":[124],"Variant":[125],"filtering":[126],"permitted":[127],"us":[128],"identify":[130],"same":[132],"homozygous":[134],"frameshift":[135],"variant":[136,192,249,270],"(c.211+1_211+2dup)":[137],"7/9":[139],"individuals":[140],"(78%).":[141],"encodes":[143],"protein":[145,194],"localized":[146],"posterior":[149],"part":[150],"nuclear":[153],"envelope":[154],"that":[155,228,245],"necessary":[157],"for":[158,236,274],"attachment":[160],"tail":[163],"head.":[167],"Immunofluorescence":[168],"assays":[169],"cells":[173],"mutated":[176],"revealed":[178],"total":[180],"absence":[181],"SUN5,":[183],"thus":[184],"demonstrating":[185],"deleterious":[187],"impact":[188],"identified":[191,247],"expression.":[195],"Transmission":[196],"microscopy":[198],"showed":[199],"conserved":[201],"flagellar":[202],"structure":[203],"slightly":[206],"decondensed":[207],"chromatin.":[208],"FISH":[209],"did":[210],"not":[211],"highlight":[212],"higher":[214],"rate":[215],"chromosome":[217],"aneuploidy":[218],"patients":[223,237],"compared":[224],"controls,":[226],"indicating":[227],"intra-cytoplasmic":[229],"injection":[231],"(ICSI)":[232],"can":[233],"be":[234,272],"proposed":[235],"c.211+1_211+2dup":[240],"variant.":[241],"results":[243],"suggest":[244],"main":[252],"cause":[253],"African":[259,279],"population.":[260],"Consequently,":[261],"simple":[263],"inexpensive":[265],"genotyping":[266],"211+1_211+2dup":[269],"could":[271],"beneficial":[273],"affected":[275],"men":[276],"origin":[280],"before":[281],"resorting":[282],"more":[284],"exhaustive":[285],"analyses.":[287]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2021-03-01T00:00:00"}
