1. O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery
   Walinka van Tol et al, 2019, Current Opinion in Structural Biology CrossRef
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3. Rapid Recapitulation of Nonalcoholic Steatohepatitis upon Loss of Host Cell Factor 1 Function in Mouse Hepatocytes
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4. O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome
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9. HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism
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10. Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
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11. Inherited defects of cobalamin metabolism
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12. Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes
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13. Cortical and Commissural Defects Upon HCF‐1 Loss in Nkx2.1‐Derived Embryonic Neurons and Glia
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14. Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
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15. O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling
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16. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
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17. O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability
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18. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients
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