Vallance, Hilary

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 281

IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria

Kranendijk, M., Struys, E. A., van Schaftingen, E., Gibson, K. M., Kanhai, W. A., van der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., de Klerk, J. B., et al. (2010) · Science

Metabolism and Genetic DisordersBiochemical Acid Research Studies

Cited by 195

Clinical impact and cost efficacy of newborn screening for congenital adrenal hyperplasia

Fox, D. A., Ronsley, R., Khowaja, A. R., Haim, A., Vallance, H., Sinclair, G., & Amed, S. (2020) · The Journal of Pediatrics

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 28