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The New England Journal of Medicine|August 4, 2021
Variant PNLDC1, Defective piRNA Processing, and AzoospermiaLiina Nagirnaja, Nina Mørup, John E Nielsen, et al.American Journal of Human Genetics|April 13, 2024
Toward clinical exomes in diagnostics and management of male infertilityKristiina Lillepea, Anna-Grete Juchnewitsch, Laura Kasak, et al.The EMBO Journal|January 20, 2026
Conserved shifts in sperm small non-coding RNA profiles during mouse and human agingJunchao Shi, Xudong Zhang, Chen Cai, et al.American Journal of Human Genetics|July 9, 2022
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failureAntoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, et al.Human Molecular Genetics|January 8, 2025
Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertilityTihana Marić, Helen Castillo-Madeen, Monika Logara Klarić, et al.Plos Genetics|April 5, 2013
Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1Alexandra M Lopes, Kenneth I Aston, Emma Thompson, et al.Frontiers in Endocrinology|April 24, 2024
Undiagnosed RASopathies in infertile menAnna-Grete Juchnewitsch, Kristjan Pomm, Avirup Dutta, et al.American Journal of Human Genetics|July 17, 2020
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male InfertilityMargot J Wyrwoll, Şehime G Temel, Liina Nagirnaja, et al.Nature Communications|January 11, 2022
A de novo paradigm for male infertilityM S Oud, R M Smits, H E Smith, et al.Nature Communications|December 26, 2022
Diverse monogenic subforms of human spermatogenic failureLiina Nagirnaja, Alexandra M Lopes, Wu-Lin Charng, et al.Pageof 12