Alexandra Manuel Lopes

This study identifies AXDND1's role in balancing spermatogonial commitment and sperm tail formation in mice and humans, showing its necessity for fertility.

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