Jerry E. Vockley

This study compares the cost-effectiveness of rapid genome sequencing and targeted gene panel testing in critically ill infants, finding early rapid genome sequencing leads to significant cost savings.

This study shows that SLC25A1 deficiency in mice causes senescence via p53-dependent pathways, leading to developmental disorders similar to human D/L-2HGA.

This study investigates the pathology of Combined D,L-2-Hydroxyglutaric Aciduria and evaluates phenylbutyrate as a potential treatment through metabolomic and RNA-seq analyses.

The paper identifies biallelic loss-of-function OBSCN variants in six patients with severe, recurrent rhabdomyolysis and shows reduced OBSCN expression and impaired SR Ca2+ handling in patient muscle.