BACKGROUND Human male infertility has a notable genetic component, including well-established
diagnoses such as Klinefelter syndrome, Y-chromosome microdeletions and …

STUDY QUESTION Which genes are confidently linked to human monogenic male infertility?
SUMMARY ANSWER Our systematic literature search and clinical validity assessment …

Identifying the genes causing male infertility is important to increase our biological understanding
as well as the diagnostic yield and clinical relevance of genetic testing in this disorder. …

Background P-element–induced wimpy testis (PIWI)–interacting RNAs (piRNAs) are short (21
to 35 nucleotides in length) and noncoding and are found almost exclusively in germ cells, …

Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically
incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced …

Male infertility affects ∼7% of men, but its causes remain poorly understood. The most
severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at …

Introduction A minority of patients with sporadic early‐onset Alzheimer's disease (AD) exhibit
de novo germ line mutations in the autosomal dominant genes such as APPPSEN1, or …

De novo mutations are known to play a prominent role in sporadic disorders with reduced
fitness. We hypothesize that de novo mutations play an important role in severe male infertility …

STUDY QUESTION What are the causative genetic variants in patients with male infertility
due to severe sperm motility disorders? SUMMARY ANSWER We identified high confidence …

Although the evolutionary history of the X chromosome indicates its specialization in male
fitness, its role in spermatogenesis has largely been unexplored. Currently only three X …