Almousa H et al. TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions. Brain. 2024;147(1):311-324.PMID: 37713627 PMCID: PMC10766242 DOI: 10.1093/brain/awad301
Aslanger AD et al. Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability. J Hum Genet. 2022;67(5):279-284. PMID: 34983975 DOI: 10.1038/s10038-021-01007-8
Bolat GU et al. Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review . Mol Syndromol. 2022;13(4):263-269. PMID: 36158060 PMCID: PMC9421696 DOI: 10.1159/000522041
Kharrat M et al. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report oftwo novel mutations, 3D-modelling, and molecular docking studies. J Hum Genet. 2024;69(7):291-299.PMID: 38467738 DOI: 10.1038/s10038-024-01242-9
Üçtepe E et al. TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature. Mol Syndromol. 2023;14(6):485-492 PMID: 38058760 PMCID: PMC10697769 DOI: 10.1159/000531439
Wilton KM et al. Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Mol Genet Genomic Med. 2020;8(5):e1211PMID: 32162493 PMCID: PMC7216808 DOI: 10.1002/mgg3.1211
Yu B et al. Case Report: Whole exome sequencing identifies compoundheterozygous variants in the TRAPPC9 gene in a child with developmental delay. Front Genet. 2024:15:1415194. PMID: 39184350 PMCID: PMC11341409 DOI: 10.3389/fgene.2024.1415194