O’Byrne, J. ., Tarailo-Graovac, M. ., Ghani, A. ., Champion, M. ., Deshpande, C. ., Dursun, A. ., … van Karnebeek, C. . (2018). The genotypic and phenotypic spectrum of MTO1 deficiency. Molecular Genetics and Metabolism, 123(1), 28-42. https://doi.org/10.1016/j.ymgme.2017.11.003
WW Wasserman
First name:
WW
Last name:
Wasserman
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)
van Karnebeek, C. ., Wortmann, S. ., Tarailo-Graovac, M. ., Langeveld, M. ., Ferreira, C. ., van de Kamp, J. ., … Boycott, K. . (2018). The role of the clinician in the multi-omics era: are you ready?. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-017-0128-1 (Original work published 2018)