Margus Punab

This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.

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.

The paper identifies a 1.6 Mb Y-chromosomal inversion in the AZFc region as a high-penetrant risk factor for male infertility, increasing the risk of spermatogenic failure by 8.6-fold.