Genome sequencing studies of de novo mutations in humans have revealed surprising
incongruities in our understanding of human germline mutation. In particular, the mutation …

The frequency of the most common sporadic Apert syndrome mutation (C755G) in the
human fibroblast growth factor receptor 2 gene (FGFR2) is 100–1,000 times higher than …

Men age and die, while cells in their germline are programmed to be immortal. To elucidate
how germ cells maintain viable DNA despite increasing parental age, we analysed DNA …

Because germline mutations are the source of all evolutionary adaptations and heritable
diseases, characterizing their properties and the rate at which they arise across individuals …

In humans, most germline mutations are inherited from the father. This observation has been
widely interpreted as reflecting the replication errors that accrue during spermatogenesis. If …

Surprising findings about human germline mutation have come from applying new
technologies to detect rare mutations in germline DNA, from analysing DNA sequence …

Germline mutations are a driving force behind genome evolution and genetic disease. We
investigated genome-wide mutation rates and spectra in multi-sibling families. The mutation …

Some de novo human mutations arise at frequencies far exceeding the genome average
mutation rate. Examples include the common mutations at one or a few sites in the genes …

The textbook view that most germline mutations in mammals arise from replication errors is
indirectly supported by the fact that there are both more mutations and more cell divisions in …

Our understanding of the chronology of human evolution relies on the “molecular clock”
provided by the steady accumulation of substitutions on an evolutionary lineage. Recent …