Zoë Fleischmann

The paper analyzes mtDNA mutation dynamics in human oocytes and finds evidence of positive selection for noncoding and coding mutations, suggesting a shift from positive to purifying selection upon inheritance.

The paper identifies reversion mutations in homologous recombination genes across cancers, showing they restore DNA repair and confer PARP inhibitor resistance through specific structural alterations.

This paper reveals a wave-shaped germline selection profile of mtDNA mutations by correcting for regression to the mean bias, showing how mutations are filtered in the germline.

The paper reanalyzes mtDNA mutation data from human primordial germ cells, identifies NUMT contamination, and suggests that selection in PGCs may be positive rather than negative.

The paper identifies an AH>GH substitution signature in mtDNA linked to aging and TSSS, showing higher frequency in species with longer generation lengths.

The paper re-analyzes mtDNA mutation data from primordial germ cells and finds that many variants are artifacts from nuclear mitochondrial DNA fragments, invalidating previous conclusions about purifying selection.

This paper shows that the m.3243A>G mtDNA mutation levels in blood change in a bi-phasic way with age, requiring an age correction dependent on mutation level, and finds evidence for positive germline selection of this mutation.

The paper challenges previous interpretations of biparental mtDNA inheritance, proposing a model where paternal mtDNA undergoes selective fixation due to initial low copy number and a selective advantage.