Gregory M. Enns

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

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

The paper identifies a novel mtDNA variant m.12148T>C associated with multisystem dysfunction and highlights the importance of tissue-specific heteroplasmy analysis.