Currently, most men with infertility cannot be given an aetiology, which reflects a lack of
knowledge around gamete production and how it is affected by genetics and the …

In meiosis, homologous chromosome synapsis is mediated by a supramolecular protein
structure, the synaptonemal complex (SC), that assembles between homologous …

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 …

Summary Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-
3.7% of women under 40 yielding infertility and a shorter lifespan. Most causes are …

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 …

Background The importance of phosphorylation in sperm during spermatogenesis has not
been pursued extensively. Testis‐specific serine kinase 3 (Tssk3) is a conserved gene, but …

Much of the human genetics variant repertoire is composed of single nucleotide variants
(SNV) and small insertion/deletions (indel) but structural variants (SV) remain a major part of …

Background Oocyte maturation arrest and early embryonic arrest are important reproductive
phenotypes resulting in female infertility and cause the recurrent failure of assisted …

Non-obstructive azoospermia, the absence of sperm in the ejaculate due to disturbed
spermatogenesis, represents the most severe form of male infertility. De novo microdeletions …

Infertility affects around 7% of the male population and can be due to severe spermatogenic
failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identified a …