Lee, J., Gottlieb, M., Lever, J., Jones, S., Blau, N., van Karnebeek, C., & Wasserman, W. (2018). Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-017-0125-4 (Original work published 2018)