Manon S. Oud

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

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.

This study shows TRIM71 is essential for germ cell development in mice and links TRIM71 variants to human male infertility.

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

This paper systematically reviews and assesses the clinical validity of genes linked to human male infertility, identifying 67 confidently linked genes across 81 phenotypes.