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Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
American Journal of Human Genetics|April 26, 2016
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie SyndromeSylvie Gerber, Kamil J Alzayady, Lydie Burglen, et al.
Brain : a Journal of Neurology|October 4, 2017
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cellsMara Cavallin, Maria A Rujano, Nathalie Bednarek, et al.
The Journal of Clinical Investigation|October 16, 2019
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal functionMathilda Bedin, Olivia Boyer, Aude Servais, et al.
The Journal of Clinical Investigation|February 7, 2017
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiencySvjetlana Lovric, Sara Goncalves, Heon Yung Gee, et al.
Autophagy|February 26, 2021
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)<sup>1</sup>Daniel J Klionsky, Amal Kamal Abdel-Aziz, Sara Abdelfatah, et al.
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