Variant PNLDC1, Defective piRNA Processing, and Azoospermia

Liina’s paper with GEMINI collaborators is now available in New England Journal of Medicine. The paper describes our discovery of PNLDC1 as a new male infertility gene. One really interesting aspect is that we were able to use small RNA sequencing of testis tissue from the patients to confirm defective piRNA processing associated with PNLDC1 […]