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 …

Male infertility is a heterogeneous condition of largely unknown etiology that affects at least
7% of men worldwide. Classical genetic approaches and emerging next-generation …

Sex-limited selection can moderate the elimination of deleterious mutations from the
population and contribute to the high prevalence of common human diseases. Accordingly …

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 …

Alternative splicing of precursor messenger RNA (pre-mRNA) is common in mammalian
cells and enables the production of multiple gene products from a single gene, thus …

Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic
representation and in at least 15% of cases, this condition is related to known genetic …

BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …

A thorough understanding of the genetic basis of male infertility has eluded researchers in
spite of significant efforts to identify novel genetic causes of the disease, particularly over the …

Background The routine genetic analysis for diagnosing male infertility has not changed
over the last twenty years, and currently available tests can only determine the etiology of …

The RBMY gene family is found on the Y chromosome of all mammals, and microdeletions
are strongly associated with infertility in men. RBMY expresses RBM only in the nuclei of …