Studies
Genetics of Male Infertility Initiative (GEMINI)
Genetics of Male Infertility Initiative (GEMINI)
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Overview
Selected Publications (9)
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia.
L. Kasak, M. Punab, L. Nagirnaja, et al.. (2018). American journal of human genetics. Cited 109 times.
https://doi.org/10.1016/j.ajhg.2018.07.005
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility.
M. J. Wyrwoll, S. Temel, L. Nagirnaja, et al.. (2020). American journal of human genetics. Cited 75 times.
https://doi.org/10.1016/j.ajhg.2020.06.010
Variant PNLDC1, Defective piRNA Processing, and Azoospermia.
L. Nagirnaja, N. Mørup, J. Nielsen, et al.. (2021). The New England journal of medicine. Cited 74 times.
https://doi.org/10.1056/NEJMoa2028973
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia
A. Salas-Huetos, F. Tüttelmann, M. J. Wyrwoll, et al.. (2020). Human Genetics. Cited 37 times.
https://doi.org/10.1007/s00439-020-02236-1
A de novo paradigm for male infertility
J. Veltman, M. Oud, R. Smits, et al.. (2021). Nature Communications. Cited 34 times.
https://doi.org/10.1101/2021.02.27.433155
Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure
Jimmaline J. Hardy, M. J. Wyrwoll, W. Mcfadden, et al.. (2021). Human Genetics. Cited 28 times.
https://doi.org/10.1007/s00439-021-02287-y
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.
A. Riera-Escamilla, M. Vockel, L. Nagirnaja, et al.. (2022). American journal of human genetics. Cited 27 times.
https://doi.org/10.1016/j.ajhg.2022.06.007
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans
M. J. Wyrwoll, Channah M Gaasbeek, Ieva Golubickaitė, et al.. (2022). American Journal of Human Genetics. Cited 21 times.
https://doi.org/10.1016/j.ajhg.2022.09.002
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management.
L. Kasak, Kristiina Lillepea, L. Nagirnaja, et al.. (2022). Human reproduction. Cited 8 times.
https://doi.org/10.1093/humrep/deac100
