A de novo paradigm for male infertility
Manon S. Oud, RM Smits, H E Smith, Francesco Kumara Mastrorosa, Giles S. Holt, Brendan J. Houston, Petra F. de Vries, B. Alobaidi, Lois E. Batty, H. Ismail, J. Greenwood, Harsh J. Sheth, Aneta Mikulášová, Galuh Astuti, Christian Gilissen, , Joris Andre Veltman
The paper identifies de novo mutations as a significant genetic cause of male infertility, finding several candidate genes and an enrichment of loss-of-function and missense mutations in intolerant genes.
Nature Communications · Jan 10, 2022Peer-reviewedGenetics