Liliana Ramos

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 assesses the clinical validity of genes linked to human male infertility, identifying 67 confidently linked genes across 81 phenotypes.