Theresa Mair

G-quadruplex structures act as a novel recognition motif for the meiosis-specific histone methyltransferase PRDM9

This study shows PRDM9 binds G-quadruplex structures, enhancing meiotic recombination by creating chromatin accessibility.

Mutations in ErbB2 accumulating in the male germline measured by error-corrected sequencing

The paper detects ErbB2 mutations in male germline using error-corrected sequencing, finding age-related accumulation and early mutational enrichment in young donors.

Activating mutations in FGFR3 are associated with clonal expansion events and high de novo rates in the male germline

The paper investigates FGFR3 mutations in the male germline, finding some mutations increase with age and lead to clonal expansions and higher mutation rates.

High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Discovery of an unusual high number of de novo mutations in sperm of older men using duplex sequencing

The paper uses duplex sequencing to analyze de novo mutations in sperm DNA from older and younger donors, finding higher mutation frequencies and recurrence in older donors.