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. A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein
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5. Bioinformatics Analysis of Next Generation Sequencing Data Identifies Molecular Biomarkers Associated With Type 2 Diabetes Mellitus
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6. Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia
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8. HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism
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9. Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
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10. Inherited defects of cobalamin metabolism
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11. Missense and nonsense mutations of the zebrafish hcfc1a gene result in contrasting mTor and radial glial phenotypes
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12. Cortical and Commissural Defects Upon HCF‐1 Loss in Nkx2.1‐Derived Embryonic Neurons and Glia
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13. Catalytic deficiency of O-GlcNAc transferase leads to X-linked intellectual disability
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14. O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling
    Nithya Selvan et al, 2018, Journal of Biological Chemistry CrossRef
15. O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability
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16. Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients
    Parith Wongkittichote et al, 2021, Journal of Human Genetics CrossRef