Diverse monogenic subforms of human spermatogenic failure

oleh: Liina Nagirnaja, Alexandra M. Lopes, Wu-Lin Charng, Brian Miller, Rytis Stakaitis, Ieva Golubickaite, Alexandra Stendahl, Tianpengcheng Luan, Corinna Friedrich, Eisa Mahyari, Eloise Fadial, Laura Kasak, Katinka Vigh-Conrad, Manon S. Oud, Miguel J. Xavier, Samuel R. Cheers, Emma R. James, Jingtao Guo, Timothy G. Jenkins, Antoni Riera-Escamilla, Alberto Barros, Filipa Carvalho, Susana Fernandes, João Gonçalves, Christina A. Gurnett, Niels Jørgensen, Davor Jezek, Emily S. Jungheim, Sabine Kliesch, Robert I. McLachlan, Kenan R. Omurtag, Adrian Pilatz, Jay I. Sandlow, James Smith, Michael L. Eisenberg, James M. Hotaling, Keith A. Jarvi, Margus Punab, Ewa Rajpert-De Meyts, Douglas T. Carrell, Csilla Krausz, Maris Laan, Moira K. O’Bryan, Peter N. Schlegel, Frank Tüttelmann, Joris A. Veltman, Kristian Almstrup, Kenneth I. Aston, Donald F. Conrad

Format: Article
Diterbitkan: Nature Portfolio 2022-12-01

Deskripsi

The GEMINI consortium sequenced 1,000 cases of idiopathic male infertility and identified a plausible Mendelian cause in 20% of cases. The infertility genes can be grouped by expression pattern, facilitating their interpretation and follow-up.