Marisa W. Friederich

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

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.

This paper describes a new mouse model of nonketotic hyperglycinemia with postnatal abnormalities in glycine levels, neural tube defects, body weight, electroencephalographic recordings, and activity, useful for evaluating new therapies.