Miguel Joao Xavier

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.

This study phases de novo mutations using a combined long-read and short-read sequencing approach, successfully determining parent-of-origin for 71% of analyzed mutations.

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.

This paper systematically reviews and validates monogenic causes of human male infertility, identifying 120 genes linked to 104 infertility phenotypes and assessing their clinical validity.

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