Publications

Van Bergen NJ et al.Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143, 112-130, doi:10.1093/brain/awz374 (2020). PMID: 31794024.

Ghosh SG et al.A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. Eur J Hum Genet 29, 271-279, doi:10.1038/s41431-020-00717-5 (2021). PMID: 32901138.

Sacher M et al. TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins. Traffic, doi:10.1111/tra.12615 (2018). PMID: 30152084.

Hall R et al.TRAPPopathies: Severe multisystem disorders caused by variants in genes of the Transport Protein Particle (TRAPP) complexes. Int J Mol Sci. 2024;25(24):13329. PMID: 39769094.