Anne Goriely

The paper investigates how mutation timing, accumulation, and selection in the male germline influence the risk of developmental disorders through de novo mutations.

The paper investigates the molecular overlap between spermatogonia and neural programs, showing enrichment of brain-expansion genes in spermatogonia across mammals.

Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.

This study identifies a foetal-like state 0B in human spermatogonial stem cells that maintains a suppressive transcriptomic program, contrasting with rodent models where this state is not maintained into adulthood.

The paper presents a method to assess recurrence risk of de novo mutations in families using deep-sequencing and haplotyping, finding that 59% of DNMs had reduced risk below 0.1%.

The paper identifies 61 novel mutations in the aged human testes, most affecting the RAS-MAPK pathway, showing evidence of selfish selection in the male germline.