Nadja Rotte

This study creates a single-nucleus multiomic and spatial atlas of human spermatogenesis, linking gene regulatory networks to infertility-associated genetic variation and disease perturbations.

The paper identifies genotype-specific meiotic impairments in infertile men with loss-of-function variants in M1AP or ZZS genes, showing different recombination failures and reproductive outcomes.

The paper identifies biallelic M1AP mutations as a cause of meiotic arrest and male infertility through whole exome sequencing and cohort screening.