Antoni Riera‐Escamilla

The paper re-analyzes genetic variants in POI patients, finding that the claimed diagnostic yield is overestimated due to incorrect assumptions about inheritance modes.

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.

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.