{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:21:51Z","timestamp":1790799711949,"version":"4.1.0"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T00:00:00Z","timestamp":1736294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Scientific Center of Excellence for Reproductive and Regenerative Medicine, Republic of Croatia"},{"DOI":"10.13039\/100000002","name":"US National Institutes of Health","doi-asserted-by":"publisher","award":["GM127379"],"award-info":[{"award-number":["GM127379"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD078641"],"award-info":[{"award-number":["R01HD078641"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"US National Institutes of Health","doi-asserted-by":"publisher","award":["P50HD096723"],"award-info":[{"award-number":["P50HD096723"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002301","name":"Estonian Research Council","doi-asserted-by":"publisher","award":["PRG1021"],"award-info":[{"award-number":["PRG1021"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that was further assessed by the EMSA assay and molecular dynamic simulations. We additionally screened for DMRT1 mutations in 1940 infertile men diagnosed with spermatogenic failure, 644 normozoospermic controls, and 105 females with primary ovarian insufficiency (POI) recruited to the GEnetics of Male INfertility Initiative (GEMINI) or Estonian Andrology (ESTAND) cohorts. DMRT1 p.Pro74Leu (chr9:g.842059C\u2009&amp;gt;\u2009T) variant was detected in infertile brothers in the highly conserved position within the DNA binding DM domain of the protein. EMSA assay showed reduced DNA binding of DMRT1P74L and molecular dynamic simulations showed differences in structural and dynamical properties between the wild type protein and DMRT1P74L. Plausible disease-causing DMRT1 variants were only identified in infertile men (13\/1940; 0.67%), and none in 639 fertile controls. Burden testing showed an excess of rare deleterious DM domain mutations in the infertility cohort compared to gnomAD v.4.0 population-based controls (Fisher\u2019s exact test, p\u2009=\u20091.44 x 10\u22125). Three rare deleterious variants in DMRT1 were found in 104 cases of POI. The findings of this study strengthen the evidence of DMRT1 variants being a causal factor for male infertility and provide the distribution of likely pathogenic variants across the gene. This is also the first study to suggest that DMRT1 variants may also be linked to POI.<\/jats:p>","DOI":"10.1093\/hmg\/ddae197","type":"journal-article","created":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T00:01:35Z","timestamp":1736294495000},"page":"481-491","source":"Crossref","is-referenced-by-count":1,"title":["Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility"],"prefix":"10.1093","volume":"34","author":[{"given":"Tihana","family":"Mari\u0107","sequence":"first","affiliation":[{"name":"Scientific Centre of Excellence for Reproductive and Regenerative Medicine, University of Zagreb School of Medicine , \u0160alata 2, Zagreb 10000 ,","place":["Croatia"]},{"name":"Department of Medical Biology, University of Zagreb School of Medicine , \u0160alata 2, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Castillo-Madeen","sequence":"additional","affiliation":[{"name":"Division of Genetics, ONPRC & Oregon Health & Science University , 505 N.W. 185th Avenue, Beaverton, OR ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika Logara","family":"Klari\u0107","sequence":"additional","affiliation":[{"name":"Genom Ltd. , Ilica 190, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antun","family":"Bari\u0161i\u0107","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Faculty of Science, University of Zagreb , Horvatovac 102A, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lovro","family":"Trgovec-Greif","sequence":"additional","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute , Bijeni\u010dka Cesta 54, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark W","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Genetics, Cell Biology, and Development, University of Minnesota , 321 Church St. SE, Minneapolis, MN ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna-Grete","family":"Juchnewitsch","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Translational Medicine, University of Tartu , Ravila tn 19, Tartu ,","place":["Estonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristiina","family":"Lillepea","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Translational Medicine, University of Tartu , Ravila tn 19, Tartu ,","place":["Estonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avirup","family":"Dutta","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Translational Medicine, University of Tartu , Ravila tn 19, Tartu ,","place":["Estonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucija","family":"\u017duni\u0107","sequence":"additional","affiliation":[{"name":"Genom Ltd. , Ilica 190, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra M","family":"Stendahl","sequence":"additional","affiliation":[{"name":"Division of Genetics, ONPRC & Oregon Health & Science University , 505 N.W. 185th Avenue, Beaverton, OR ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margus","family":"Punab","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Translational Medicine, University of Tartu , Ravila tn 19, Tartu ,","place":["Estonia"]},{"name":"Andrology Clinic, Tartu University Hospital , Ludvig Puusepa 8, Tartu ,","place":["Estonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristjan","family":"Pomm","sequence":"additional","affiliation":[{"name":"Andrology Clinic, Tartu University Hospital , Ludvig Puusepa 8, Tartu ,","place":["Estonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel M","family":"Mendoza","sequence":"additional","affiliation":[{"name":"Andrology Department, Universitat Aut\u00f2noma de Barcelona , Pla\u00e7a C\u00edvica, 08193 Bellaterra, Barcelona ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra M","family":"Lopes","sequence":"additional","affiliation":[{"name":"University of Porto , Pra\u00e7a de Gomes Teixeira, 4099-002 Porto ,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Merkler","family":"\u0160orgi\u0107","sequence":"additional","affiliation":[{"name":"University Hospital Zagreb , Ulica Mije Ki\u0161pati\u0107a 12, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Vugrek","sequence":"additional","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute , Bijeni\u010dka Cesta 54, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joao","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica Humana, INSA , Av. Padre Cruz, 1649-016 Lisbon ,","place":["Portugal"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristian","family":"Almstrup","sequence":"additional","affiliation":[{"name":"Copenhagen University Hospital - Rigshospitalet , Blegdamsvej 9, Copenhagen ,","place":["Denmark"]},{"name":"Department of Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen , Blegdamsvej 3B, Copenhagen,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth I","family":"Aston","sequence":"additional","affiliation":[{"name":"Andrology and IVF Laboratory, University of Utah School of Medicine , 675 Arapeen Dr 201 Suite 201, Salt Lake City, UT ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Belu\u017ei\u0107","sequence":"additional","affiliation":[{"name":"Ru\u0111er Bo\u0161kovi\u0107 Institute , Bijeni\u010dka Cesta 54, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davor","family":"Je\u017eek","sequence":"additional","affiliation":[{"name":"Scientific Centre of Excellence for Reproductive and Regenerative Medicine, University of Zagreb School of Medicine , \u0160alata 2, Zagreb 10000 ,","place":["Croatia"]},{"name":"University Hospital Zagreb , Ulica Mije Ki\u0161pati\u0107a 12, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Branimir","family":"Berto\u0161a","sequence":"additional","affiliation":[{"name":"Department of Chemistry, Faculty of Science, University of Zagreb , Horvatovac 102A, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maris","family":"Laan","sequence":"additional","affiliation":[{"name":"Institute of Biomedicine and Translational Medicine, University of Tartu , Ravila tn 19, Tartu ,","place":["Estonia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Katu\u0161i\u0107","family":"Bojanac","sequence":"additional","affiliation":[{"name":"Scientific Centre of Excellence for Reproductive and Regenerative Medicine, University of Zagreb School of Medicine , \u0160alata 2, Zagreb 10000 ,","place":["Croatia"]},{"name":"Department of Medical Biology, University of Zagreb School of Medicine , \u0160alata 2, Zagreb 10000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald F","family":"Conrad","sequence":"additional","affiliation":[{"name":"Division of Genetics, ONPRC & Oregon Health & Science University , 505 N.W. 185th Avenue, Beaverton, OR ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8914-1691","authenticated-orcid":false,"given":"Maja","family":"Barbali\u0107","sequence":"additional","affiliation":[{"name":"Genom Ltd. , Ilica 190, Zagreb 10000 ,","place":["Croatia"]},{"name":"Faculty of Science, University of Split , Ru\u0111era Bo\u0161kovi\u0107 33, Split 21000 ,","place":["Croatia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,1,8]]},"reference":[{"key":"2025031011564563100_ref1","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":"2025031011564563100_ref2","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":"2025031011564563100_ref3","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1093\/humrep\/dez022","article-title":"A systematic review and standardized clinical validity assessment of male infertility genes","volume":"34","author":"Oud","year":"2019","journal-title":"Hum Reprod"},{"key":"2025031011564563100_ref4","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1038\/gim.2018.10","article-title":"Point-of-care whole-exome sequencing of idiopathic male infertility","volume":"20","author":"Fakhro","year":"2018","journal-title":"Genet Med"},{"key":"2025031011564563100_ref5","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/nsmb.3032","article-title":"An ancient protein-DNA interaction underlying metazoan sex determination","volume":"22","author":"Murphy","year":"2015","journal-title":"Nat Struct Mol Biol"},{"key":"2025031011564563100_ref6","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1530\/EJE-12-0136","article-title":"Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development","volume":"167","author":"Ledig","year":"2012","journal-title":"Eur J Endocrinol"},{"key":"2025031011564563100_ref7","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":"2025031011564563100_ref8","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":"2025031011564563100_ref9","doi-asserted-by":"crossref","first-page":"e1003349","DOI":"10.1371\/journal.pgen.1003349","article-title":"Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1","volume":"9","author":"Lopes","year":"2013","journal-title":"PLoS Genet"},{"key":"2025031011564563100_ref10","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1080\/19396368.2019.1680764","article-title":"Predictive factors for sperm retrieval from males with azoospermia who are eligible for testicular sperm extraction (TESE)","volume":"66","author":"Pavan-Jukic","year":"2020","journal-title":"Sys Biol Reprod Med"},{"key":"2025031011564563100_ref11","doi-asserted-by":"crossref","first-page":"D1055","DOI":"10.1093\/nar\/gks1186","article-title":"SpermatogenesisOnline 1.0: a resource for spermatogenesis based on manual literature curation and genome-wide data mining","volume":"41","author":"Zhang","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"2025031011564563100_ref12","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":"2025031011564563100_ref13","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1101\/gr.229102","article-title":"The human genome browser at UCSC","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res"},{"key":"2025031011564563100_ref14","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.ydbio.2013.02.014","article-title":"Interaction between DMRT1 function and genetic background modulates signaling and pluripotency to control tumor susceptibility in the fetal germ line","volume":"377","author":"Krentz","year":"2013","journal-title":"Dev Biol"},{"key":"2025031011564563100_ref15","doi-asserted-by":"crossref","first-page":"12946","DOI":"10.1073\/pnas.1616138113","article-title":"Characterizing hydrophobicity of amino acid side chains in a protein environment via measuring contact angle of a water nanodroplet on planar peptide network","volume":"113","author":"Zhu","year":"2016","journal-title":"Proc Natl Acad Sci"},{"key":"2025031011564563100_ref16","doi-asserted-by":"crossref","first-page":"2341","DOI":"10.1210\/js.2019-00306","article-title":"Next-generation sequencing reveals novel genetic variants (SRY, DMRT1, NR5A1, DHH, DHX37) in adults with 46,XY DSD","volume":"3","author":"Buonocore","year":"2019","journal-title":"J Endocr Soc"},{"key":"2025031011564563100_ref17","doi-asserted-by":"crossref","first-page":"44536","DOI":"10.1038\/srep44536","article-title":"Diagnostic application of targeted next-generation sequencing of 80 genes associated with disorders of sexual development","volume":"7","author":"Fan","year":"2017","journal-title":"Sci Rep"},{"key":"2025031011564563100_ref18","first-page":"36","article-title":"Novel heterozygous genetic variants in patients with 46, XY gonadal dysgenesis","volume":"49","author":"Chauhan","year":"2017","journal-title":"Horm Metab Res"},{"key":"2025031011564563100_ref19","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/j.fertnstert.2014.05.022","article-title":"DMRT1 mutations are rarely associated with male infertility","volume":"102","author":"Tewes","year":"2014","journal-title":"Fertil Steril"},{"key":"2025031011564563100_ref20","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":"2025031011564563100_ref21","doi-asserted-by":"crossref","first-page":"2587","DOI":"10.1101\/gad.834100","article-title":"Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation","volume":"14","author":"Raymond","year":"2000","journal-title":"Genes Dev"},{"key":"2025031011564563100_ref22","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nature10239","article-title":"DMRT1 prevents female reprogramming in the postnatal mammalian testis","volume":"476","author":"Matson","year":"2011","journal-title":"Nature"},{"key":"2025031011564563100_ref23","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1093\/humrep\/16.5.972","article-title":"Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects","volume":"16","author":"Skakkebaek","year":"2001","journal-title":"Hum Reprod"},{"key":"2025031011564563100_ref24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1093\/g3journal\/jkac267","article-title":"Genomics of sexual cell fate transdifferentiation in the mouse gonad","volume":"12","author":"Murphy","year":"2022","journal-title":"G3 (Bethesda)"},{"key":"2025031011564563100_ref25","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.ydbio.2011.05.658","article-title":"DMRT1 promotes oogenesis by transcriptional activation of Stra8 in the mammalian fetal ovary","volume":"356","author":"Krentz","year":"2011","journal-title":"Dev Biol"},{"key":"2025031011564563100_ref26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1095\/biolreprod.115.131185","article-title":"A screen for genomic disorders of infertility identifies MAST2 duplications associated with nonobstructive azoospermia in humans","volume":"93","author":"Huang","year":"2015","journal-title":"Biol Reprod"},{"key":"2025031011564563100_ref27","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.eururo.2021.08.014","article-title":"European Association of Urology guidelines on male sexual and reproductive health: 2021 update on male infertility","volume":"80","author":"Minhas","year":"2021","journal-title":"Eur Urol"},{"key":"2025031011564563100_ref28","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1097\/JU.0000000000001521","article-title":"Diagnosis and treatment of infertility in men: AUA\/ASRM guideline part I","volume":"205","author":"Schlegel","year":"2021","journal-title":"J Urol"},{"key":"2025031011564563100_ref29","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1097\/JU.0000000000001520","article-title":"Diagnosis and treatment of infertility in men: AUA\/ASRM guideline PART II","volume":"205","author":"Schlegel","year":"2021","journal-title":"J Urol"},{"key":"2025031011564563100_ref30","first-page":"18","article-title":"Causes of male infertility: a 9-year prospective monocentre study on 1737 patients with reduced total sperm counts","volume":"32","author":"Punab","year":"2017","journal-title":"Hum Reprod"},{"key":"2025031011564563100_ref31","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1101\/gr.213611.116","article-title":"Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly","volume":"27","author":"Schneider","year":"2017","journal-title":"Genome Res"},{"key":"2025031011564563100_ref32","first-page":"1","article-title":"Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM","volume":"00","author":"Li","year":"2013","journal-title":"arXiv"},{"key":"2025031011564563100_ref33","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"McKenna","year":"2010","journal-title":"Genome Res"},{"key":"2025031011564563100_ref34","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/humu.22531","article-title":"Jannovar: a java library for exome annotation","volume":"35","author":"J\u00e4ger","year":"2014","journal-title":"Hum Mutat"},{"key":"2025031011564563100_ref35","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"2025031011564563100_ref36","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1101\/gr.160325.113","article-title":"Improved exome prioritization of disease genes through cross-species phenotype comparison","volume":"24","author":"Robinson","year":"2014","journal-title":"Genome Res"},{"key":"2025031011564563100_ref37","doi-asserted-by":"crossref","first-page":"1455","DOI":"10.1038\/ng.3697","article-title":"Genome-wide significance testing of variation from single case exomes","volume":"48","author":"Wilfert","year":"2016","journal-title":"Nat Genet"},{"key":"2025031011564563100_ref38","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"2025031011564563100_ref39","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/1471-2199-8-58","article-title":"Vertebrate DM domain proteins bind similar DNA sequences and can heterodimerize on DNA","volume":"8","author":"Murphy","year":"2007","journal-title":"BMC Mol Biol"},{"key":"2025031011564563100_ref40","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/0378-1119(89)90358-2","article-title":"Site-directed mutagenesis by overlap extension using the polymerase chain reaction","volume":"77","author":"Ho","year":"1989","journal-title":"Gene"},{"key":"2025031011564563100_ref41","doi-asserted-by":"crossref","first-page":"9954","DOI":"10.1021\/jp003020w","article-title":"Structure and dynamics of the TIP3P, SPC, and SPC\/E water models at 298 K","volume":"105","author":"Mark","year":"2001","journal-title":"J Phys Chem A"},{"key":"2025031011564563100_ref42","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/0263-7855(96)00018-5","article-title":"VMD: visual molecular dynamics","volume":"14","author":"Humphrey","year":"1996","journal-title":"J Mol Graph"},{"key":"2025031011564563100_ref43","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.softx.2015.06.001","article-title":"GROMACS: high performance molecular simulations through multi-level parallelism from laptops to supercomputers","volume":"1-2","author":"Abraham","year":"2015","journal-title":"SoftwareX"},{"key":"2025031011564563100_ref44","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":"2025031011564563100_ref45","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.juro.2008.10.074","article-title":"Cryptorchidism and testicular cancer: separating fact from fiction","volume":"181","author":"Wood","year":"2009","journal-title":"J Urol"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/6\/481\/61371136\/ddae197.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/6\/481\/61371136\/ddae197.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T11:57:19Z","timestamp":1741607839000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/34\/6\/481\/7945157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,8]]},"references-count":45,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2025,1,8]]},"published-print":{"date-parts":[[2025,3,7]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddae197","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,3,15]]},"published":{"date-parts":[[2025,1,8]]}}}