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Select item 93887931.

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure

Antoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, Miguel J. Xavier, Albert Carbonell, Daniel Moreno-Mendoza, Marc Pybus, Ginevra Farnetani, Viktoria Rosta, Francesca Cioppi, Corinna Friedrich, Manon S. Oud, Godfried W. van der Heijden, Armin Soave, Thorsten Diemer, Elisabet Ars, Josvany Sánchez-Curbelo, Sabine Kliesch, Moira K. O’Bryan, Eduard Ruiz-Castañe, GEMINI Consortium, Fernando Azorín, Joris A. Veltman, Kenneth I. Aston, Donald F. Conrad, Frank Tüttelmann, Csilla Krausz

Am J Hum Genet. 2022 Aug 4; 109(8): 1458–1471. Published online 2022 Jul 8. doi: 10.1016/j.ajhg.2022.06.007

PMCID:: PMC9388793

Abstract Article PDF–2.1M

Select item 82667422.

Variants in GCNA, X-linked germ-cell genome integrity gene, identified in men with primary spermatogenic failure

Jimmaline J. Hardy, Margot J. Wyrwoll, William Mcfadden, Agnieszka Malcher, Nadja Rotte, Nijole C. Pollock, Sarah Munyoki, Maria V. Veroli, Brendan J. Houston, Miguel J. Xavier, Laura Kasak, Margus Punab, Maris Laan, Sabine Kliesch, Peter Schlegel, Thomas Jaffe, Kathleen Hwang, Josip Vukina, Miguel A. Brieño-Enríquez, Kyle Orwig, Judith Yanowitz, Michael Buszczak, Joris A. Veltman, Manon Oud, Liina Nagirnaja, Marta Olszewska, Moira K. O’Bryan, Donald F. Conrad, Maciej Kurpisz, Frank Tüttelmann, Alexander N. Yatsenko

Hum Genet. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: Hum Genet. 2021 Aug; 140(8): 1169–1182. Published online 2021 May 7. doi: 10.1007/s00439-021-02287-y