{"id":"https://openalex.org/W3194711989","doi":"https://doi.org/10.1093/humrep/deab185","title":"Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB","display_name":"Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB","publication_year":2021,"publication_date":"2021-07-19","ids":{"openalex":"https://openalex.org/W3194711989","doi":"https://doi.org/10.1093/humrep/deab185","mag":"3194711989","pmid":"https://pubmed.ncbi.nlm.nih.gov/34392356"},"language":"en","primary_location":{"id":"doi:10.1093/humrep/deab185","doi":"https://doi.org/10.1093/humrep/deab185","is_oa":false,"landing_page_url":"https://doi.org/10.1093/humrep/deab185","pdf_url":null,"source":{"id":"https://openalex.org/S127900037","display_name":"Human Reproduction","issn_l":"0268-1161","issn":["0268-1161","1460-2350"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Reproduction","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Yufan Wu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yufan Wu","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004299627","display_name":"Yang Li","orcid":"https://orcid.org/0000-0001-9243-6538","observed_orcids":["https://orcid.org/0000-0001-9243-6538"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yang Li","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085687417","display_name":"Ghulam Murtaza","orcid":"https://orcid.org/0000-0002-6371-8701","observed_orcids":["https://orcid.org/0000-0002-6371-8701"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Ghulam Murtaza","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059341029","display_name":"Jianteng Zhou","orcid":"https://orcid.org/0000-0002-1127-749X","observed_orcids":["https://orcid.org/0000-0002-1127-749X"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jianteng Zhou","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Yuying Jiao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yuying Jiao","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089042178","display_name":"Chenjia Gong","orcid":"https://orcid.org/0000-0002-6853-6229","observed_orcids":["https://orcid.org/0000-0002-6853-6229"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Chenjia Gong","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016608578","display_name":"Congyuan Hu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Congyuan Hu","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066354675","display_name":"Qiqi Han","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Qiqi Han","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086471424","display_name":"Huan Zhang","orcid":"https://orcid.org/0000-0002-6021-0689","observed_orcids":["https://orcid.org/0000-0002-6021-0689"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Huan Zhang","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100719572","display_name":"Yuanwei Zhang","orcid":"https://orcid.org/0000-0002-2814-8061","observed_orcids":["https://orcid.org/0000-0002-2814-8061"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yuanwei Zhang","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078621388","display_name":"Baolu Shi","orcid":"https://orcid.org/0000-0002-5791-4300","observed_orcids":["https://orcid.org/0000-0002-5791-4300"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Baolu Shi","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100777179","display_name":"Hui Ma","orcid":"https://orcid.org/0000-0002-0995-2345","observed_orcids":["https://orcid.org/0000-0002-0995-2345"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Hui Ma","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":"https://orcid.org/0000-0002-0995-2345","affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101727164","display_name":"Xiaohua Jiang","orcid":"https://orcid.org/0000-0002-5682-6827","observed_orcids":["https://orcid.org/0000-0002-5682-6827"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Xiaohua Jiang","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":"https://orcid.org/0000-0002-5682-6827","affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005929167","display_name":"Qinghua Shi","orcid":"https://orcid.org/0000-0003-1180-9799","observed_orcids":["https://orcid.org/0000-0003-1180-9799"]},"institutions":[{"id":"https://openalex.org/I126520041","display_name":"University of Science and Technology of China","ror":"https://ror.org/04c4dkn09","country_code":"CN","type":"education","lineage":["https://openalex.org/I126520041","https://openalex.org/I19820366"]},{"id":"https://openalex.org/I19820366","display_name":"Chinese Academy of Sciences","ror":"https://ror.org/034t30j35","country_code":"CN","type":"government","lineage":["https://openalex.org/I19820366"]},{"id":"https://openalex.org/I4210121447","display_name":"Center for Excellence in Molecular Cell Science","ror":"https://ror.org/02rrdvm96","country_code":"CN","type":"facility","lineage":["https://openalex.org/I19820366","https://openalex.org/I4210121447"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Qinghua Shi","raw_affiliation_strings":["First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China"],"raw_orcid":"https://orcid.org/0000-0003-1180-9799","affiliations":[{"raw_affiliation_string":"First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, University of Science and Technology of China, Hefei, China","institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5005929167","https://openalex.org/A5100777179","https://openalex.org/A5101727164"],"corresponding_institution_ids":["https://openalex.org/I126520041","https://openalex.org/I19820366","https://openalex.org/I4210121447"],"apc_list":{"value":3519,"currency":"EUR","value_usd":4202},"apc_paid":null,"fwci":4.5245,"has_fulltext":false,"cited_by_count":38,"citation_normalized_percentile":{"value":0.95150857,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"36","issue":"10","first_page":"2793","last_page":"2804"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10116","display_name":"Sperm and Testicular Function","score":0.7773000001907349,"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":0.7773000001907349,"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":0.11760000139474869,"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/T10364","display_name":"Reproductive Biology and Fertility","score":0.02250000089406967,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/consanguinity","display_name":"consanguinity","score":0.6710000038146973},{"id":"https://openalex.org/keywords/male-infertility","display_name":"male infertility","score":0.7559999823570251},{"id":"https://openalex.org/keywords/female-infertility","display_name":"female infertility","score":0.9039999842643738},{"id":"https://openalex.org/keywords/non-obstructive-azoospermia","display_name":"non-obstructive azoospermia","score":0.9580000042915344},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8299999833106995},{"id":"https://openalex.org/keywords/splicing-mutation","display_name":"splicing mutation","score":0.972000002861023},{"id":"https://openalex.org/keywords/exon-skipping","display_name":"exon skipping","score":0.8330000042915344},{"id":"https://openalex.org/keywords/meiotic-recombination","display_name":"meiotic recombination","score":0.847000002861023},{"id":"https://openalex.org/keywords/crossover-formation","display_name":"crossover formation","score":0.5860000252723694},{"id":"https://openalex.org/keywords/meiotic-prophase-arrest","display_name":"meiotic prophase arrest","score":0.8420000076293945}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6577177047729492},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.6230283975601196},{"id":"https://openalex.org/C2779923321","wikidata":"https://www.wikidata.org/wiki/Q774347","display_name":"Consanguinity","level":2,"score":0.5706797242164612},{"id":"https://openalex.org/C2777688143","wikidata":"https://www.wikidata.org/wiki/Q179399","display_name":"Infertility","level":3,"score":0.4841190278530121},{"id":"https://openalex.org/C64894306","wikidata":"https://www.wikidata.org/wiki/Q849622","display_name":"Homologous chromosome","level":3,"score":0.4709293246269226},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4684586226940155},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.42297428846359253},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.41520100831985474},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3823864758014679},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22251960635185242},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.1869419813156128}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003241","descriptor_name":"Consanguinity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007246","descriptor_name":"Infertility","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008540","descriptor_name":"Meiosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013091","descriptor_name":"Spermatogenesis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018345","descriptor_name":"Mice, Knockout","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018797","descriptor_name":"Cell Cycle Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D051379","descriptor_name":"Mice","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D053713","descriptor_name":"Azoospermia","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1093/humrep/deab185","doi":"https://doi.org/10.1093/humrep/deab185","is_oa":false,"landing_page_url":"https://doi.org/10.1093/humrep/deab185","pdf_url":null,"source":{"id":"https://openalex.org/S127900037","display_name":"Human Reproduction","issn_l":"0268-1161","issn":["0268-1161","1460-2350"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Reproduction","raw_type":"journal-article"},{"id":"pmid:34392356","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34392356","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human reproduction (Oxford, England)","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2753577075","display_name":null,"funder_award_id":"82071709","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G2964472905","display_name":null,"funder_award_id":"31630050","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G3683737846","display_name":null,"funder_award_id":"31871514","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G7069498406","display_name":null,"funder_award_id":"32061143006","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"},{"id":"https://openalex.org/G7259780143","display_name":null,"funder_award_id":"31890780","funder_id":"https://openalex.org/F4320321001","funder_display_name":"National Natural Science Foundation of China"}],"funders":[{"id":"https://openalex.org/F4320321001","display_name":"National Natural Science Foundation of China","ror":"https://ror.org/01h0zpd94"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W1529934215","https://openalex.org/W1876047377","https://openalex.org/W1964124887","https://openalex.org/W1970413157","https://openalex.org/W1992739522","https://openalex.org/W2024439539","https://openalex.org/W2038473742","https://openalex.org/W2041276823","https://openalex.org/W2059145105","https://openalex.org/W2063876797","https://openalex.org/W2067338267","https://openalex.org/W2080545378","https://openalex.org/W2093926676","https://openalex.org/W2111326065","https://openalex.org/W2114029728","https://openalex.org/W2137886330","https://openalex.org/W2141785516","https://openalex.org/W2155845523","https://openalex.org/W2160491878","https://openalex.org/W2161758325","https://openalex.org/W2559861862","https://openalex.org/W2588629476","https://openalex.org/W2592909544","https://openalex.org/W2607871750","https://openalex.org/W2613440566","https://openalex.org/W2887103892","https://openalex.org/W2914748180","https://openalex.org/W2921578696","https://openalex.org/W2982632190","https://openalex.org/W3046805499","https://openalex.org/W3102539723","https://openalex.org/W3133709019","https://openalex.org/W3138655862"],"related_works":["https://openalex.org/W4409087208","https://openalex.org/W4410842731","https://openalex.org/W2921578696","https://openalex.org/W4289890713","https://openalex.org/W4220695770","https://openalex.org/W7216421110","https://openalex.org/W2888673899","https://openalex.org/W1933573353","https://openalex.org/W7127106170","https://openalex.org/W7127924220"],"abstract_inverted_index":{"STUDY":[0,122,427],"QUESTION:":[1],"Can":[2],"whole-exome":[3],"sequencing":[4],"(WES)":[5],"reveal":[6,370],"pathogenic":[7],"mutations":[8,148,183,352,396,411],"in":[9,134,152,194,214,235,270,357,363,379,397,412],"two":[10,135,236],"consanguineous":[11,136,163,223,246],"Pakistani":[12,137,164,224,247],"families":[13,138,165],"with":[14,32,35,166,217,238,255],"infertile":[15,242,359],"patients?":[16],"SUMMARY":[17],"ANSWER:":[18],"A":[19,206],"homozygous":[20,207,228],"spermatogenesis":[21],"associated":[22],"22":[23],"(SPATA22)":[24],"frameshift":[25,209],"mutation":[26,42,210,231,251,260,292,298],"(c.203del),":[27],"which":[28,265],"disrupts":[29],"the":[30,79,96,130,146,187,253,271,276,285,290,295,371,374,435,448,461,467],"interaction":[31,254,277],"meiosis":[33],"specific":[34],"OB-fold":[36],"(MEIOB),":[37],"and":[38,59,64,78,84,91,120,132,155,171,181,197,226,240,280,311,325,341,345,355,361,376,392,399,415,439,446,459],"a":[39,68,215,222,227,267,407],"MEIOB":[40,49,58,83,182,229,258,279,296,303,326,342,356,377,400],"splicing":[41,230,259,297],"(c.683-1G>A)":[43,232],"that":[44,71,294,323,395],"led":[45],"to":[46,108,113,139,300,315,368],"loss":[47,301],"of":[48,82,145,284,302,353,373,424,442,453,466,470,478],"protein":[50,76],"cause":[51,402],"familial":[52],"infertility.":[53,334,426],"WHAT":[54],"IS":[55],"KNOWN":[56],"ALREADY:":[57],"SPATA22,":[60],"direct":[61,390],"binding":[62],"partners":[63],"functional":[65,192,393],"collaborators,":[66],"form":[67],"meiosis-specific":[69],"heterodimer":[70,378],"regulates":[72],"meiotic":[73,103,117,312,316,348,403],"recombination.":[74],"The":[75,143,249,257,473],"stability":[77],"axial":[80],"localization":[81],"SPATA22":[85,180,208,250,306,324,340,354,375,398],"depend":[86],"on":[87,308],"each":[88],"other.":[89],"Meiob":[90,286],"Spata22":[92],"knockout":[93],"mice":[94,288],"have":[95],"same":[97],"phenotypes:":[98],"mutant":[99,156,287],"spermatocytes":[100],"can":[101,401],"initiate":[102],"recombination":[104,317,404],"but":[105],"are":[106,343],"unable":[107],"complete":[109],"DSB":[110],"repair,":[111],"leading":[112],"crossover":[114],"formation":[115],"failure,":[116,405],"prophase":[118],"arrest,":[119],"sterility.":[121],"DESIGN,":[123],"SIZE,":[124],"DURATION:":[125],"We":[126],"performed":[127],"WES":[128,188],"for":[129,141,332,347,351,409,421],"patients":[131,168,237],"controls":[133],"screen":[140],"mutations.":[142],"pathogenicity":[144],"identified":[147,213,234],"was":[149,212,233,432],"assessed":[150],"by":[151,191,434],"vitro":[153],"assay":[154],"mouse":[157],"model.":[158],"PARTICIPANTS/MATERIALS,":[159],"SETTING,":[160],"METHODS:":[161],"Two":[162],"four":[167],"(three":[169],"men":[170,360],"one":[172,241],"woman)":[173],"suffering":[174],"from":[175,186,221,244],"primary":[176],"infertility":[177,414],"were":[178,184],"recruited.":[179],"screened":[185],"data,":[189],"followed":[190],"verification":[193],"cultured":[195],"cells":[196],"mice.":[198],"MAIN":[199],"RESULTS":[200],"AND":[201],"THE":[202,385],"ROLE":[203],"OF":[204,384],"CHANCE:":[205],"(c.203del)":[211],"patient":[216],"non-obstructive":[218],"azoospermia":[219],"(NOA)":[220],"family":[225],"NOA":[239],"woman":[243],"another":[245],"family.":[248],"destroyed":[252],"MEIOB.":[256],"induced":[261],"Exon":[262],"9":[263],"skipping,":[264],"causes":[266],"32aa":[268],"deletion":[269],"oligonucleotide-binding":[272],"domain":[273],"without":[274],"affecting":[275],"between":[278],"SPATA22.":[281],"Furthermore,":[282],"analyses":[283],"modelling":[289],"patients'":[291],"revealed":[293],"leads":[299],"proteins,":[304],"abolished":[305],"recruitment":[307],"chromosome":[309],"axes,":[310],"arrest":[313],"due":[314],"failure.":[318],"Thus,":[319],"our":[320],"study":[321],"suggests":[322],"may":[327],"both":[328,358],"be":[329],"causative":[330],"genes":[331],"human":[333,380,413,425],"LIMITATIONS,":[335],"REASONS":[336],"FOR":[337],"CAUTION:":[338],"As":[339],"interdependent":[344],"essential":[346],"recombination,":[349],"screening":[350],"women":[362],"larger":[364],"cohorts":[365],"is":[366],"important":[367],"further":[369],"role":[372,408],"fertility.":[381],"WIDER":[382],"IMPLICATIONS":[383],"FINDINGS:":[386],"These":[387],"findings":[388],"provide":[389],"clinical":[391],"evidence":[394],"supporting":[406],"these":[410],"their":[416],"potential":[417],"use":[418],"as":[419],"targets":[420],"genetic":[422],"diagnosis":[423],"FUNDING/COMPETING":[428],"INTEREST(S):":[429],"This":[430],"work":[431],"supported":[433],"National":[436,449],"Key":[437],"Research":[438,464],"Developmental":[440],"Program":[441,465],"China":[443,454],"(2018YFC1003900,":[444],"2018YFC1003700,":[445],"2019YFA0802600),":[447],"Natural":[450],"Science":[451],"Foundation":[452],"(31890780,":[455],"31630050,":[456],"32061143006,":[457],"82071709,":[458],"31871514),":[460],"Strategic":[462],"Priority":[463],"Chinese":[468],"Academy":[469],"Sciences":[471],"(XDB19000000).":[472],"authors":[474],"declare":[475],"no":[476],"conflicts":[477],"interest.":[479],"TRIAL":[480],"REGISTRATION":[481],"NUMBER:":[482],"N/A.":[483]},"counts_by_year":[{"year":2026,"cited_by_count":8},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":4},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":10},{"year":2021,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2021-08-30T00:00:00"}
