Neurodevelopmental disorders (NDDs) represent a growing medical challenge in modern
societies. Ever-increasing sophisticated diagnostic tools have been continuously revealing a …

Two leading European professional societies, the European Society of Human Genetics and
the European Society for Human Reproduction and Embryology, have worked together …

Mutations in the germline generates all evolutionary genetic variation and is a cause of
genetic disease. Parental age is the primary determinant of the number of new germline …

Each human genome includes de novo mutations that arose during gametogenesis. While
these germline mutations represent a fundamental source of new genetic diversity, they can …

Spermatogonial stem cells exhibit a low level of spontaneous mutation that is heavily
impacted by paternal age via mechanisms that appear to involve the aberrant repair of DNA …

Mutation rates vary between species across several orders of magnitude, with larger
organisms having the highest per-generation mutation rates. Hypotheses for this pattern …

Congenital heart disease (CHD) survivors are at risk for neurodevelopmental disability
(NDD), and recent studies identify genes associated with both disorders, suggesting that …

Advanced parental age is a well‐replicated risk factor for autism spectrum disorder (ASD), a
neurodevelopmental condition with a complex and not well‐defined etiology. We sought to …

Germline de novo mutations (DNMs) refer to spontaneous mutations arising during
gametogenesis, resulting in genetic changes within germ cells that are subsequently …

Importance Advanced parental age has been associated with autism spectrum disorders
(ASDs) in children. However, little is known about the association between grandparental …