Maris Laan

Mode of inheritance needs to be accounted for in interpreting genotype-phenotype links in monogenic disorders

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

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.

A common 1.6 Mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans

The paper identifies a 1.6 Mb Y-chromosomal inversion in the AZFc region as a high-penetrant risk factor for male infertility, increasing the risk of spermatogenic failure by 8.6-fold.