Sarah J. Pickett

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.

This study uses whole-genome sequencing to identify mitochondrial DNA variants associated with mitochondrial disease traits in a large population, finding novel associations and lower penetrance in unselected individuals.

This paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

The paper investigates mitonuclear SNP combinations in Parkinson's disease cohorts and identifies five significant interactions associated with disease risk.

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.