{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T17:44:46Z","timestamp":1784828686726,"version":"3.55.0"},"reference-count":86,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T00:00:00Z","timestamp":1731456000000},"content-version":"vor","delay-in-days":317,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100017642","name":"National Plan for Scientific and Technical Research and Innovation","doi-asserted-by":"crossref","award":["PID2020-120157RB-I00"],"award-info":[{"award-number":["PID2020-120157RB-I00"]}],"id":[{"id":"10.13039\/501100017642","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Andalusian Government"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,10,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>STUDY QUESTION<\/jats:title>\n                  <jats:p>Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>SUMMARY ANSWER<\/jats:title>\n                  <jats:p>Our findings revealed a significant association between SPGF and the SHOC1 gene and identified three novel genes (PCSK4, AP3B1, and DLK1) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>WHAT IS KNOWN ALREADY<\/jats:title>\n                  <jats:p>SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants. Next-generation sequencing methods are useful for identifying rare mutations that explain monogenic forms of SPGF. Genome-wide association studies (GWASs) have become essential approaches for deciphering the intricate genetic landscape of complex diseases, offering a cost-effective and rapid means to genotype millions of genetic variants. Novel methods have demonstrated that GWAS datasets can be used to infer rare coding variants that are causal for male infertility phenotypes. However, this approach has not been previously applied to characterize the genetic component of a whole case\u2013control cohort.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>STUDY DESIGN, SIZE, DURATION<\/jats:title>\n                  <jats:p>We employed a hypothesis-driven approach focusing on all genetic variation identified, using a GWAS platform and subsequent genotype imputation, encompassing over 20 million polymorphisms and a total of 1571 SPGF patients and 2431 controls. Both common (minor allele frequency, MAF &amp;gt; 0.01) and rare (MAF &amp;lt; 0.01) variants were investigated within a total of 1797 loci with a reported role in spermatogenesis. This gene panel was meticulously assembled through comprehensive searches in the literature and various databases focused on male infertility genetics.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>PARTICIPANTS\/MATERIALS, SETTING, METHODS<\/jats:title>\n                  <jats:p>This study involved a European cohort using previously and newly generated data. Our analysis consisted of three independent methods: (i) variant-wise association analyses using logistic regression models, (ii) gene-wise association analyses using combined multivariate and collapsing burden tests, and (iii) identification and characterisation of highly damaging rare coding variants showing homozygosity only in SPGF patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>MAIN RESULTS AND THE ROLE OF CHANCE<\/jats:title>\n                  <jats:p>The variant-wise analyses revealed an association between SPGF and SHOC1-rs12347237 (P\u2009=\u20094.15E\u221206, odds ratio\u2009=\u20092.66), which was likely explained by an altered binding affinity of key transcription factors in regulatory regions and the disruptive effect of coding variants within the gene. Three additional genes (PCSK4, AP3B1, and DLK1) were identified as novel relevant players in human male infertility using the gene-wise burden test approach (P\u2009&amp;lt;\u20095.56E\u221204). Furthermore, we linked a total of 32 potentially pathogenic and recessive coding variants of the selected genes to 35 different cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>LARGE SCALE DATA<\/jats:title>\n                  <jats:p>Publicly available via GWAS catalog (accession number: GCST90239721).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>LIMITATIONS, REASONS FOR CAUTION<\/jats:title>\n                  <jats:p>The analysis of low-frequency variants presents challenges in achieving sufficient statistical power to detect genetic associations. Consequently, independent studies with larger sample sizes are essential to replicate our results. Additionally, the specific roles of the identified variants in the pathogenic mechanisms of SPGF should be assessed through functional experiments.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>WIDER IMPLICATIONS OF THE FINDINGS<\/jats:title>\n                  <jats:p>Our findings highlight the benefit of using GWAS genotyping to screen for both common and rare variants potentially implicated in idiopathic cases of SPGF, whether due to complex or monogenic causes. The discovery of novel genetic risk factors for SPGF and the elucidation of the underlying genetic causes provide new perspectives for personalized medicine and reproductive counselling.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>STUDY FUNDING\/COMPETING INTEREST(S)<\/jats:title>\n                  <jats:p>This work was supported by the Spanish Ministry of Science and Innovation through the Spanish National Plan for Scientific and Technical Research and Innovation (PID2020-120157RB-I00) and the Andalusian Government through the research projects of \u2018Plan Andaluz de Investigaci\u00f3n, Desarrollo e Innovaci\u00f3n (PAIDI 2020)\u2019 (ref. PY20_00212) and \u2018Proyectos de Investigaci\u00f3n aplicada FEDER-UGR 2023\u2019 (ref. C-CTS-273-UGR23). S.G.-M. was funded by the previously mentioned projects (ref. PY20_00212 and PID2020-120157RB-I00). A.G.-J. was funded by MCIN\/AEI\/10.13039\/501100011033 and FSE \u2018El FSE invierte en tu futuro\u2019 (grant ref. FPU20\/02926). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC\/SAU\/LA0003\/2013 and POCI-01-0145-FEDER-007274). S.S. is supported by FCT funds (10.54499\/DL57\/2016\/CP1363\/CT0019), ToxOmics-Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, and is also partially supported by the Portuguese Foundation for Science and Technology (UIDP\/00009\/2020 and UIDB\/00009\/2020). S. Larriba received support from Instituto de Salud Carlos III (grant: DTS18\/00101), co-funded by FEDER funds\/European Regional Development Fund (ERDF)\u2014a way to build Europe) and from \u2018Generalitat de Catalunya\u2019 (grant 2021SGR052). S. Larriba is also sponsored by the \u2018Researchers Consolidation Program\u2019 from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09\/020). All authors declare no conflict of interest related to this study.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/hropen\/hoae069","type":"journal-article","created":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T16:51:03Z","timestamp":1731516663000},"source":"Crossref","is-referenced-by-count":4,"title":["A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure"],"prefix":"10.1093","volume":"2024","author":[{"given":"Andrea","family":"Guzm\u00e1n-Jim\u00e9nez","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Universidad de Granada , Granada,","place":["Spain"]},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gonz\u00e1lez-Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Universidad de Granada , Granada,","place":["Spain"]},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6033-0587","authenticated-orcid":false,"given":"Miriam","family":"Cerv\u00e1n-Mart\u00edn","sequence":"additional","affiliation":[{"name":"Institute of Parasitology and Biomedicine L\u00f3pez-Neyra (IPBLN), CSIC , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicol\u00e1s","family":"Garrido","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe) , Valencia,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 A","family":"Castilla","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]},{"name":"Departamento de Anatom\u00eda y Embriolog\u00eda Humana, Facultad de Medicina, Universidad de Granada , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M Carmen","family":"Gonzalvo","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]},{"name":"Unidad de Reproducci\u00f3n, UGC Obstetricia y Ginecolog\u00eda, HU Virgen de las Nieves , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Clavero","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]},{"name":"Unidad de Reproducci\u00f3n, UGC Obstetricia y Ginecolog\u00eda, HU Virgen de las Nieves , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Molina","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]},{"name":"Unidad de Reproducci\u00f3n, UGC Obstetricia y Ginecolog\u00eda, HU Virgen de las Nieves , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saturnino","family":"Luj\u00e1n","sequence":"additional","affiliation":[{"name":"Servicio de Urolog\u00eda, Hospital Universitari i Politecnic La Fe e Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe) , Valencia,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Santos-Ribeiro","sequence":"additional","affiliation":[{"name":"IVI-RMA Lisbon , Lisbon,","place":["Portugal"]},{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine, University of Lisbon , Lisbon,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5533-437X","authenticated-orcid":false,"given":"Miguel \u00c1ngel","family":"Vilches","sequence":"additional","affiliation":[{"name":"Ovoclinic & Ovobank, Cl\u00ednicas de Reproducci\u00f3n Asistida y Banco de \u00f3vulos , Marbella, M\u00e1laga,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Espuch","sequence":"additional","affiliation":[{"name":"Hospital Universitario Torrec\u00e1rdenas, Unidad de Reproducci\u00f3n Humana Asistida , Almer\u00eda,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Maldonado","sequence":"additional","affiliation":[{"name":"UGC de Obstetricia y Ginecolog\u00eda, Complejo Hospitalario de Ja\u00e9n , Ja\u00e9n,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noelia","family":"Galiano-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"VIDA RECOLETAS Seville , Seville,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Santamar\u00eda-L\u00f3pez","sequence":"additional","affiliation":[{"name":"VIDA RECOLETAS Seville , Seville,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gonz\u00e1lez-Ravina","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe) , Valencia,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Quintana-Ferraz","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe) , Valencia,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"G\u00f3mez","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe) , Valencia,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Amor\u00f3s","sequence":"additional","affiliation":[{"name":"IVIRMA Global Research Alliance, IVI Foundation, Instituto de Investigaci\u00f3n Sanitaria La Fe (IIS La Fe) , Valencia,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Mart\u00ednez-Granados","sequence":"additional","affiliation":[{"name":"Hospital Universitario Pr\u00edncipe de Asturias , Alcal\u00e1 de Henares, Madrid,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanira","family":"Ortega-Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Unidad de Urolog\u00eda, Hospital Universitario de Canarias , Santa Cruz de Tenerife,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Burgos","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Universidad de Granada , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Pereira-Caetano","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Humana, Instituto Nacional de Sa\u00fade Dr Ricardo Jorge , Lisbon,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ozgur","family":"Bulbul","sequence":"additional","affiliation":[{"name":"Division of Gynecology and Reproductive Medicine, Department of Gynecology, Fertility Center, Humanitas Research Hospital, IRCCS , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Castellano","sequence":"additional","affiliation":[{"name":"Division of Gynecology and Reproductive Medicine, Department of Gynecology, Fertility Center, Humanitas Research Hospital, IRCCS , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Romano","sequence":"additional","affiliation":[{"name":"Division of Gynecology and Reproductive Medicine, Department of Gynecology, Fertility Center, Humanitas Research Hospital, IRCCS , Milan,","place":["Italy"]},{"name":"Department of Biomedical Sciences, Humanitas University , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Albani","sequence":"additional","affiliation":[{"name":"Division of Gynecology and Reproductive Medicine, Department of Gynecology, Fertility Center, Humanitas Research Hospital, IRCCS , Milan,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Llu\u00eds","family":"Bassas","sequence":"additional","affiliation":[{"name":"Laboratory of Seminology and Embryology, Andrology Service-Fundaci\u00f3 Puigvert , Barcelona,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7035-7422","authenticated-orcid":false,"given":"Susana","family":"Seixas","sequence":"additional","affiliation":[{"name":"i3S\u2014Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade, Universidade do Porto , Porto,","place":["Portugal"]},{"name":"Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) , Porto,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Humana, Instituto Nacional de Sa\u00fade Dr Ricardo Jorge , Lisbon,","place":["Portugal"]},{"name":"ToxOmics\u2014Centro de Toxicogen\u00f3mica e Sa\u00fade Humana, Nova Medical School , Lisbon,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra M","family":"Lopes","sequence":"additional","affiliation":[{"name":"Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) , Porto,","place":["Portugal"]},{"name":"CGPP-IBMC\u2014Centro de Gen\u00e9tica Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto , Porto,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4579-5452","authenticated-orcid":false,"given":"Sara","family":"Larriba","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics Group, Bellvitge Biomedical Research Institute (IDIBELL), L\u2019Hospitalet de Llobregat , Barcelona,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rogelio J","family":"Palomino-Morales","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]},{"name":"Departamento de Bioqu\u00edmica y Biolog\u00eda Molecular I, Universidad de Granada , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1427-7639","authenticated-orcid":false,"given":"F David","family":"Carmona","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Universidad de Granada , Granada,","place":["Spain"]},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5471-5824","authenticated-orcid":false,"given":"Lara","family":"Bossini-Castillo","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica e Instituto de Biotecnolog\u00eda, Centro de Investigaci\u00f3n Biom\u00e9dica (CIBM), Universidad de Granada , Granada,","place":["Spain"]},{"name":"Instituto de Investigaci\u00f3n Biosanitaria ibs. GRANADA , Granada,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,11,13]]},"reference":[{"key":"2024121401013115400_hoae069-B1","doi-asserted-by":"crossref","DOI":"10.1242\/dmm.045344","article-title":"A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice","volume":"13","author":"Abdelhamed","year":"2020","journal-title":"Dis Model Mech"},{"key":"2024121401013115400_hoae069-B2","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"2024121401013115400_hoae069-B3","article-title":"The Gene Ontology knowledgebase in 2023","volume":"224","author":"Aleksander","year":"2023","journal-title":"Genetics"},{"key":"2024121401013115400_hoae069-B4","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1111\/j.1442-2042.2010.02628.x","article-title":"Natural course of idiopathic oligozoospermia: comparison of mild, moderate and severe forms","volume":"17","author":"Bak","year":"2010","journal-title":"Int J Urol"},{"key":"2024121401013115400_hoae069-B5","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1111\/j.2047-2927.2014.00217.x","article-title":"Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure","volume":"2","author":"Bonache","year":"2014","journal-title":"Andrology"},{"key":"2024121401013115400_hoae069-B6","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1007\/s00439-019-01974-1","article-title":"New insights into the genetics of spermatogenic failure: a review of the literature","volume":"138","author":"Cannarella","year":"2019","journal-title":"Hum Genet"},{"key":"2024121401013115400_hoae069-B7","doi-asserted-by":"crossref","first-page":"424","DOI":"10.3389\/fgene.2020.00424","article-title":"From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases","volume":"11","author":"Cano-Gamez","year":"2020","journal-title":"Front Genet"},{"key":"2024121401013115400_hoae069-B8","doi-asserted-by":"crossref","first-page":"300","DOI":"10.3390\/jcm9020300","article-title":"Genetic Landscape of Nonobstructive Azoospermia and New Perspectives for the Clinic","volume":"9","author":"Cerv\u00e1n-Mart\u00edn","year":"2020","journal-title":"J Clin Med"},{"key":"2024121401013115400_hoae069-B9","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1093\/humrep\/deae007","article-title":"Changes in environmental exposures over decades may influence the genetic architecture of severe spermatogenic failure","volume":"39","author":"Cervan-Martin","year":"2024","journal-title":"Hum Reprod"},{"key":"2024121401013115400_hoae069-B10","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1038\/s42003-022-04192-0","article-title":"Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility","volume":"5","author":"Cervan-Martin","year":"2022","journal-title":"Commun Biol"},{"key":"2024121401013115400_hoae069-B11","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","article-title":"Second-generation PLINK: rising to the challenge of larger and richer datasets","volume":"4","author":"Chang","year":"2015","journal-title":"Gigascience"},{"key":"2024121401013115400_hoae069-B12","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1093\/hmg\/ddaa101","article-title":"Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes","volume":"29","author":"Chen","year":"2020","journal-title":"Hum Mol Genet"},{"key":"2024121401013115400_hoae069-B13","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.fertnstert.2022.11.006","article-title":"Profiling the male germline genome to unravel its reproductive potential","volume":"119","author":"Cheung","year":"2023","journal-title":"Fertil Steril"},{"key":"2024121401013115400_hoae069-B14","doi-asserted-by":"crossref","first-page":"3264","DOI":"10.3390\/ijms22063264","article-title":"Genetics of Azoospermia","volume":"22","author":"Cioppi","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2024121401013115400_hoae069-B15","doi-asserted-by":"crossref","first-page":"1284","DOI":"10.1038\/ng.3656","article-title":"Next-generation genotype imputation service and methods","volume":"48","author":"Das","year":"2016","journal-title":"Nat Genet"},{"key":"2024121401013115400_hoae069-B16","doi-asserted-by":"crossref","first-page":"100395","DOI":"10.1016\/j.xcrm.2021.100395","article-title":"Single-cell RNA-seq unravels alterations of the human spermatogonial stem cell compartment in patients with impaired spermatogenesis","volume":"2","author":"Di Persio","year":"2021","journal-title":"Cell Rep Med"},{"key":"2024121401013115400_hoae069-B17","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/s41572-023-00459-w","article-title":"Male infertility","volume":"9","author":"Eisenberg","year":"2023","journal-title":"Nat Rev Dis Primers"},{"key":"2024121401013115400_hoae069-B18","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.fertnstert.2022.10.032","article-title":"Functional assessment of DMRT1 variants and their pathogenicity for isolated male infertility","volume":"119","author":"Emich","year":"2023","journal-title":"Fertil Steril"},{"key":"2024121401013115400_hoae069-B19","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1146\/annurev-genom-102822-100509","article-title":"DECIPHER: improving genetic diagnosis through dynamic integration of genomic and clinical data","volume":"24","author":"Foreman","year":"2023","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2024121401013115400_hoae069-B20","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1093\/bioinformatics\/btu704","article-title":"minimac2: faster genotype imputation","volume":"31","author":"Fuchsberger","year":"2015","journal-title":"Bioinformatics"},{"key":"2024121401013115400_hoae069-B21","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1210\/jc.2018-02010","article-title":"DLK1 is a novel link between reproduction and metabolism","volume":"104","author":"Gomes","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"key":"2024121401013115400_hoae069-B22","doi-asserted-by":"crossref","first-page":"1318","DOI":"10.1126\/science.aaz1776","article-title":"The GTEx consortium atlas of genetic regulatory effects across human tissues","volume":"369","author":"GTEx Consortium","year":"2020","journal-title":"Science"},{"key":"2024121401013115400_hoae069-B23","first-page":"62","article-title":"Non-syndromic monogenic male infertility","volume":"90","author":"Guerri","year":"2019","journal-title":"Acta Biomed"},{"key":"2024121401013115400_hoae069-B24","doi-asserted-by":"crossref","first-page":"e1007381","DOI":"10.1371\/journal.pgen.1007381","article-title":"SHOC1 is a ERCC4-(HhH)2-like protein, integral to the formation of crossover recombination intermediates during mammalian meiosis","volume":"14","author":"Guiraldelli","year":"2018","journal-title":"PLoS Genet"},{"key":"2024121401013115400_hoae069-B25","doi-asserted-by":"crossref","first-page":"1089782","DOI":"10.3389\/fcell.2022.1089782","article-title":"Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia","volume":"10","author":"Guzman-Jimenez","year":"2022","journal-title":"Front Cell Dev Biol"},{"key":"2024121401013115400_hoae069-B26","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1093\/humupd\/dmn060","article-title":"Proprotein convertase subtilisin\/kexin type 4 in mammalian fertility: a review","volume":"15","author":"Gyamera-Acheampong","year":"2009","journal-title":"Hum Reprod Update"},{"key":"2024121401013115400_hoae069-B27","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1095\/biolreprod.105.046821","article-title":"Sperm from mice genetically deficient for the PCSK4 proteinase exhibit accelerated capacitation, precocious acrosome reaction, reduced binding to egg zona pellucida, and impaired fertilizing ability","volume":"74","author":"Gyamera-Acheampong","year":"2006","journal-title":"Biol Reprod"},{"key":"2024121401013115400_hoae069-B28","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s12610-021-00139-3","article-title":"Is BRD7 associated with spermatogenesis impairment and male infertility in humans? A case-control study in a Han Chinese population","volume":"31","author":"He","year":"2021","journal-title":"Basic Clin Androl"},{"key":"2024121401013115400_hoae069-B29","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/humupd\/dmab030","article-title":"A systematic review of the validated monogenic causes of human male infertility: 2020 update and a discussion of emerging gene-disease relationships","volume":"28","author":"Houston","year":"2021","journal-title":"Hum Reprod Update"},{"key":"2024121401013115400_hoae069-B30","doi-asserted-by":"crossref","first-page":"e1008827","DOI":"10.1371\/journal.pgen.1008827","article-title":"Population genetic models of GERP scores suggest pervasive turnover of constrained sites across mammalian evolution","volume":"16","author":"Huber","year":"2020","journal-title":"PLoS Genet"},{"key":"2024121401013115400_hoae069-B31","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1093\/bib\/bbq072","article-title":"PHAST and RPHAST: phylogenetic analysis with space\/time models","volume":"12","author":"Hubisz","year":"2011","journal-title":"Brief Bioinform"},{"key":"2024121401013115400_hoae069-B32","doi-asserted-by":"crossref","first-page":"999","DOI":"10.3390\/genes12070999","article-title":"Sex Maintenance in Mammals","volume":"12","author":"Jim\u00e9nez","year":"2021","journal-title":"Genes"},{"key":"2024121401013115400_hoae069-B33","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1071\/RD18339","article-title":"Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility","volume":"31","author":"Jing","year":"2019","journal-title":"Reprod Fertil Dev"},{"key":"2024121401013115400_hoae069-B34","doi-asserted-by":"crossref","first-page":"D353","DOI":"10.1093\/nar\/gkw1092","article-title":"KEGG: new perspectives on genomes, pathways, diseases and drugs","volume":"45","author":"Kanehisa","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B35","doi-asserted-by":"crossref","first-page":"1652","DOI":"10.1093\/humrep\/deac100","article-title":"Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management","volume":"37","author":"Kasak","year":"2022","journal-title":"Hum Reprod"},{"key":"2024121401013115400_hoae069-B36","doi-asserted-by":"publisher","DOI":"10.1111\/andr.13570","article-title":"Genome sequencing of Pakistani families with male infertility identifies deleterious genotypes in SPAG6, CCDC9, TKTL1, TUBA3C, and M1AP","author":"Khan","year":"2023","journal-title":"Andrology"},{"key":"2024121401013115400_hoae069-B37","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1080\/14737159.2018.1453358","article-title":"Testing for genetic contributions to infertility: potential clinical impact","volume":"18","author":"Krausz","year":"2018","journal-title":"Expert Rev Mol Diagn"},{"key":"2024121401013115400_hoae069-B38","doi-asserted-by":"crossref","first-page":"R159","DOI":"10.1530\/REP-15-0261","article-title":"Genetics of male infertility: from research to clinic","volume":"150","author":"Krausz","year":"2015","journal-title":"Reproduction"},{"key":"2024121401013115400_hoae069-B39","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/s41436-018-0037-1","article-title":"From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia","volume":"21","author":"Krausz","year":"2019","journal-title":"Genet Med"},{"key":"2024121401013115400_hoae069-B40","doi-asserted-by":"crossref","first-page":"1956","DOI":"10.1038\/s41436-020-0907-1","article-title":"Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men","volume":"22","author":"Krausz","year":"2020","journal-title":"Genet Med"},{"key":"2024121401013115400_hoae069-B41","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1093\/bmb\/ldab025","article-title":"Translational aspects of novel findings in genetics of male infertility-status quo 2021","volume":"140","author":"Laan","year":"2021","journal-title":"Br Med Bull"},{"key":"2024121401013115400_hoae069-B42","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1093\/molehr\/6.8.688","article-title":"Y chromosome microdeletions and germinal mosaicism in infertile males","volume":"6","author":"Le Bourhis","year":"2000","journal-title":"Mol Hum Reprod"},{"key":"2024121401013115400_hoae069-B43","doi-asserted-by":"crossref","first-page":"S35","DOI":"10.12968\/bjon.2016.25.18.S35","article-title":"Male infertility: an overview of causes and treatment options","volume":"25","author":"Leaver","year":"2016","journal-title":"Br J Nurs"},{"key":"2024121401013115400_hoae069-B44","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.ajhg.2008.06.024","article-title":"Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data","volume":"83","author":"Li","year":"2008","journal-title":"Am J Hum Genet"},{"key":"2024121401013115400_hoae069-B45","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1007\/s00439-011-1118-2","article-title":"Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets","volume":"131","author":"Li","year":"2012","journal-title":"Hum Genet"},{"key":"2024121401013115400_hoae069-B46","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.ajhg.2024.03.013","article-title":"Toward clinical exomes in diagnostics and management of male infertility","volume":"111","author":"Lillepea","year":"2024","journal-title":"Am J Hum Genet"},{"key":"2024121401013115400_hoae069-B47","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1038\/ng.3679","article-title":"Reference-based phasing using the Haplotype Reference Consortium panel","volume":"48","author":"Loh","year":"2016","journal-title":"Nat Genet"},{"key":"2024121401013115400_hoae069-B48","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.rbmo.2022.03.035","article-title":"Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia","volume":"45","author":"Lopez-Rodrigo","year":"2022","journal-title":"Reprod Biomed Online"},{"key":"2024121401013115400_hoae069-B49","doi-asserted-by":"crossref","first-page":"D882","DOI":"10.1093\/nar\/gkz1062","article-title":"New developments on the Encyclopedia of DNA Elements (ENCODE) data portal","volume":"48","author":"Luo","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B50","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1016\/j.cub.2008.08.041","article-title":"SHOC1, an XPF endonuclease-related protein, is essential for the formation of class I meiotic crossovers","volume":"18","author":"Macaisne","year":"2008","journal-title":"Curr Biol"},{"key":"2024121401013115400_hoae069-B51","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/978-1-4939-7868-7_6","article-title":"Meta-analysis of common and rare variants","volume":"1793","author":"Michailidou","year":"2018","journal-title":"Methods Mol Biol"},{"key":"2024121401013115400_hoae069-B52","doi-asserted-by":"crossref","first-page":"7953","DOI":"10.1038\/s41467-022-35661-z","article-title":"Diverse monogenic subforms of human spermatogenic failure","volume":"13","author":"Nagirnaja","year":"2022","journal-title":"Nat Commun"},{"key":"2024121401013115400_hoae069-B53","doi-asserted-by":"crossref","first-page":"W185","DOI":"10.1093\/nar\/gkaa420","article-title":"SNPnexus: a web server for functional annotation of human genome sequence variation (2020 update)","volume":"48","author":"Oscanoa","year":"2020","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B54","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1007\/s40618-022-01997-y","article-title":"A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype","volume":"46","author":"Palumbo","year":"2023","journal-title":"J Endocrinol Invest"},{"key":"2024121401013115400_hoae069-B55","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1093\/bioinformatics\/btq033","article-title":"BEDTools: a flexible suite of utilities for comparing genomic features","volume":"26","author":"Quinlan","year":"2010","journal-title":"Bioinformatics"},{"key":"2024121401013115400_hoae069-B56","doi-asserted-by":"crossref","first-page":"1134849","DOI":"10.3389\/fgene.2023.1134849","article-title":"Genomic study of TEX15 variants: prevalence and allelic heterogeneity in men with spermatogenic failure","volume":"14","author":"Qureshi","year":"2023","journal-title":"Front Genet"},{"key":"2024121401013115400_hoae069-B57","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B58","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1016\/j.ajhg.2022.06.007","article-title":"Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure","volume":"109","author":"Riera-Escamilla","year":"2022","journal-title":"Am J Hum Genet"},{"key":"2024121401013115400_hoae069-B59","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.mrfmmm.2003.11.017","article-title":"Gene expression patterns associated with infertility in humans and rodent models","volume":"549","author":"Rockett","year":"2004","journal-title":"Mutat Res"},{"key":"2024121401013115400_hoae069-B60","doi-asserted-by":"crossref","first-page":"e722","DOI":"10.1002\/cpz1.722","article-title":"Using the reactome database","volume":"3","author":"Rothfels","year":"2023","journal-title":"Curr Protoc"},{"key":"2024121401013115400_hoae069-B61","doi-asserted-by":"crossref","first-page":"689624","DOI":"10.3389\/fcell.2021.689624","article-title":"Epigenetics of male infertility: the role of DNA methylation","volume":"9","author":"Rotondo","year":"2021","journal-title":"Front Cell Dev Biol"},{"key":"2024121401013115400_hoae069-B62","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1126\/science.adf7760","article-title":"Understanding the genetics of human infertility","volume":"380","author":"Sang","year":"2023","journal-title":"Science"},{"key":"2024121401013115400_hoae069-B63","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.fertnstert.2020.11.015","article-title":"Diagnosis and treatment of infertility in men: AUA\/ASRM guideline part I","volume":"115","author":"Schlegel","year":"2021","journal-title":"Fertil Steril"},{"key":"2024121401013115400_hoae069-B64","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.jmoldx.2019.08.006","article-title":"Using R and bioconductor in clinical genomics and transcriptomics","volume":"22","author":"Sepulveda","year":"2020","journal-title":"J Mol Diagn"},{"key":"2024121401013115400_hoae069-B65","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1111\/andr.13511","article-title":"Scrutinizing the human TEX genes in the context of human male infertility","volume":"12","author":"Sieper","year":"2024","journal-title":"Andrology"},{"key":"2024121401013115400_hoae069-B66","doi-asserted-by":"crossref","first-page":"W452","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B67","doi-asserted-by":"publisher","DOI":"10.1111\/andr.13728","article-title":"How exome sequencing improves the diagnostics and management of men with non-syndromic infertility","author":"Stallmeyer","year":"2024","journal-title":"Andrology"},{"key":"2024121401013115400_hoae069-B68","doi-asserted-by":"crossref","first-page":"D607","DOI":"10.1093\/nar\/gky1131","article-title":"STRING v11: protein-protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets","volume":"47","author":"Szklarczyk","year":"2019","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B69","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","article-title":"Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program","volume":"590","author":"Taliun","year":"2021","journal-title":"Nature"},{"key":"2024121401013115400_hoae069-B70","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/s12958-022-00936-z","article-title":"Identification of deleterious variants in patients with male infertility due to idiopathic non-obstructive azoospermia","volume":"20","author":"Tang","year":"2022","journal-title":"Reprod Biol Endocrinol"},{"key":"2024121401013115400_hoae069-B71","doi-asserted-by":"crossref","first-page":"e240","DOI":"10.1111\/j.1365-2605.2009.01003.x","article-title":"A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts","volume":"33","author":"Tuttelmann","year":"2010","journal-title":"Int J Androl"},{"key":"2024121401013115400_hoae069-B72","first-page":"12","article-title":"Disorders of spermatogenesis: perspectives for novel genetic diagnostics after 20 years of unchanged routine","volume":"30","author":"Tuttelmann","year":"2018","journal-title":"Med Genet"},{"key":"2024121401013115400_hoae069-B73","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1126\/science.abi8206","article-title":"Discovery and implications of polygenicity of common diseases","volume":"373","author":"Visscher","year":"2021","journal-title":"Science"},{"key":"2024121401013115400_hoae069-B74","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s00439-019-02101-w","article-title":"The X chromosome and male infertility","volume":"140","author":"Vockel","year":"2021","journal-title":"Hum Genet"},{"key":"2024121401013115400_hoae069-B75","doi-asserted-by":"crossref","first-page":"272","DOI":"10.5534\/wjmh.220186","article-title":"Towards a multi-omics of male infertility","volume":"41","author":"Wagner","year":"2023","journal-title":"World J Mens Health"},{"key":"2024121401013115400_hoae069-B76","doi-asserted-by":"crossref","DOI":"10.1093\/molehr\/gaac015","article-title":"Bi-allelic variants in SHOC1 cause non-obstructive azoospermia with meiosis arrest in humans and mice","volume":"28","author":"Wang","year":"2022","journal-title":"Mol Hum Reprod"},{"key":"2024121401013115400_hoae069-B77","doi-asserted-by":"crossref","first-page":"D877","DOI":"10.1093\/nar\/gkv1340","article-title":"HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease","volume":"44","author":"Ward","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B78","author":"WHO","year":"2023"},{"key":"2024121401013115400_hoae069-B79","doi-asserted-by":"crossref","first-page":"D1218","DOI":"10.1093\/nar\/gkaa753","article-title":"IDDB: a comprehensive resource featuring genes, variants and characteristics associated with infertility","volume":"49","author":"Wu","year":"2021","journal-title":"Nucleic Acids Res"},{"key":"2024121401013115400_hoae069-B80","doi-asserted-by":"crossref","first-page":"e2310951120","DOI":"10.1073\/pnas.2310951120","article-title":"Essential roles of the ANKRD31-REC114 interaction in meiotic recombination and mouse spermatogenesis","volume":"120","author":"Xu","year":"2023","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2024121401013115400_hoae069-B81","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1111\/cge.14473","article-title":"A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia","volume":"105","author":"Xu","year":"2024","journal-title":"Clin Genet"},{"key":"2024121401013115400_hoae069-B82","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1111\/cge.13059","article-title":"A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing","volume":"93","author":"Xu","year":"2018","journal-title":"Clin Genet"},{"key":"2024121401013115400_hoae069-B83","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.ajhg.2010.11.011","article-title":"GCTA: a tool for genome-wide complex trait analysis","volume":"88","author":"Yang","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2024121401013115400_hoae069-B84","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1136\/jmedgenet-2020-107042","article-title":"Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia","volume":"58","author":"Yao","year":"2021","journal-title":"J Med Genet"},{"key":"2024121401013115400_hoae069-B85","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1159\/000518272","article-title":"DMRT1: an ancient sexual regulator required for human gonadogenesis","volume":"16","author":"Zarkower","year":"2022","journal-title":"Sex Dev"},{"key":"2024121401013115400_hoae069-B86","doi-asserted-by":"crossref","first-page":"110289","DOI":"10.1016\/j.celrep.2021.110289","article-title":"The TERB1 MYB domain suppresses telomere erosion in meiotic prophase I","volume":"38","author":"Zhang","year":"2022","journal-title":"Cell Rep"}],"container-title":["Human Reproduction Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hropen\/advance-article-pdf\/doi\/10.1093\/hropen\/hoae069\/60651067\/hoae069.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hropen\/article-pdf\/2024\/4\/hoae069\/60934757\/hoae069.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hropen\/article-pdf\/2024\/4\/hoae069\/60934757\/hoae069.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,14]],"date-time":"2024-12-14T01:01:55Z","timestamp":1734138115000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hropen\/article\/doi\/10.1093\/hropen\/hoae069\/7899866"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":86,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,10,9]]}},"URL":"https:\/\/doi.org\/10.1093\/hropen\/hoae069","relation":{},"ISSN":["2399-3529"],"issn-type":[{"value":"2399-3529","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024]]},"published":{"date-parts":[[2024]]},"article-number":"hoae069"}}