Publication Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.
Publication Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Publication Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease.
Publication Treatment with Statins Does Not Revert Trained Immunity in Patients with Familial Hypercholesterolemia.
Publication Decreased maternal serum acetate and impaired fetal thymic and regulatory T cell development in preeclampsia.
Publication Quantifying individual differences in brain morphometry underlying symptom severity in Autism Spectrum Disorders.
Publication A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor.
