Sara M. Fielder

This study identifies de novo ATP5F1A variants causing neurological disorders through dominant negative mechanisms, expanding the known phenotypic and genotypic spectrum of complex V deficiency.

The paper functionally validates a de novo PPP5C variant in a human proband using C. elegans, showing it causes loss-of-function and is likely responsible for the patient's phenotypes.

The paper identifies sex-specific differences in meiotic regulation in C. elegans, showing that female meiosis has stricter checkpoints and different responses to synapsis defects compared to males.