João Gonçalves

Diverse Monogenic Subforms of Human Spermatogenic Failure

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.

A de novo paradigm for male infertility

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.

Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility

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