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

Kremer, L., Wortmann, S., & Prokisch, H. (2018). "Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-017-0133-4 (Original work published 2018)

Klionsky, D., Abdelmohsen, K., Abe, A., Abedin, M., Abeliovich, H., Arozena, A., … Zughaier, S. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Autophagy, 12(1), 1-222. https://doi.org/10.1080/15548627.2015.1100356 (Original work published 2016)