Keith Allen Jarvi

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.

The paper identifies the functional interactome of TEX101 by analyzing spermatozoa from homozygous carriers of the rs35033974 variant, revealing down-regulated proteins involved in sperm migration and oocyte interaction.

The paper identifies the human TEX101-DPEP3 protein complex and develops antibodies to disrupt it, with potential applications in studying male fertility.