Nicole M. Engelhardt

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

R. Ganetzky, I. Helbig, A. Gropman, 2022, Molecular genetics and metabolism reports.

Expanding Genetic Counselor Roles: A Model for Global Research Development

E. Bedoukian, B. Keena, Jessica M. Long, 2024, Genes.