Derek Wong

5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation

D. Earl, F. Quintero-Rivera, A. Beck, 2021, Human Genetics.

Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules

N. Salamon, N. Sicotte, R. Lewis, 2015, neurogenetics.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

M. Gelb, P. Chakraborty, D. Bali, 2022, The New England journal of medicine.