Hufnagel, R. ., Zimmerman, S. ., Krueger, L. ., Bender, P. ., Ahmed, Z. ., & Saal, H. . (2016). A new frontonasal dysplasia syndrome associated with deletion of the SIX2 gene. American Journal of Medical Genetics. Part A, 170A(2), 487-491. https://doi.org/10.1002/ajmg.a.37441

Abrams, A. ., Hufnagel, R. ., Rebelo, A. ., Zanna, C. ., Patel, N. ., Gonzalez, M. ., … Dallman, J. . (2015). Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature Genetics, 47(8), 926-32. https://doi.org/10.1038/ng.3354

Hufnagel, R. ., Arno, G. ., Hein, N. ., Hersheson, J. ., Prasad, M. ., Anderson, Y. ., … Ahmed, Z. . (2015). Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. Journal of Medical Genetics, 52(2), 85-94. https://doi.org/10.1136/jmedgenet-2014-102856

Klionsky, D. ., Abdel-Aziz, A. ., Abdelfatah, S. ., Abdellatif, M. ., Abdoli, A. ., Abel, S. ., … Tong, C. . (2021). Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)¹. Autophagy, 17(1), 1-382. https://doi.org/10.1080/15548627.2020.1797280