Instructor, Pediatrics-Clinical Genetics and Metabolism
Publications
Wolfe K, Armstrong L, Wambach C, Leon E, Ohrtman K, Miller I, Pyle T, Schroeder J, Fraser J, Kousa Y. A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy. Matern Health Neonatol Perinatol. 2026 Aug 11;12(1). PubMed PMID: 42576248
