Rebecca D. Ganetzky

This study identifies clinical, biochemical, and radiographic features of ECHS1 deficiency through a multi-center retrospective analysis of 113 patients, highlighting differences in onset and outcomes across age groups.

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

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.

The paper characterizes the clinical progression of SLSMDS by analyzing electronic health records and identifies key genetic and clinical features associated with disease evolution.

This paper proposes a fetal actionable findings list for genomic sequencing in pregnancy to identify clinically relevant incidental variants.

This study assesses neurocognitive function in adults with Maple Syrup Urine Disease (MSUD) and links it to functional outcomes, finding that executive and adaptive deficits correlate with reduced independence.