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
Mochida GH, Mahajnah M, Hill AD, et al. A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet. 2009;85(6):897-902. doi:10.1016/j.ajhg.2009.10.027
Philippe O, Rio M, Carioux A, et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet. 2009;85(6):903-908. doi:10.1016/j.ajhg.2009.11.007
Koifman A, Feigenbaum A, Bi W, et al. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.Am J Med Genet A. 2010;152A(5):1268-1272. doi:10.1002/ajmg.a.33319
Kakar N, Goebel I, Daud S, et al. A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly.Eur J Med Genet. 2012;55(12):727-731. doi:10.1016/j.ejmg.2012.08.010
Marangi G, Leuzzi V, Manti F, et al. TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. Eur J Hum Genet. 2013;21(2):229-232. doi:10.1038/ejhg.2012.79
Abbasi AA, Blaesius K, Hu H, et al. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. Am J Med Genet B Neuropsychiatr Genet. 2017;174(8):839-845. doi:10.1002/ajmg.b.32602
Duerinckx S, Meuwissen M, Perazzolo C, Desmyter L, Pirson I, Abramowicz M. Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1. Mol Genet Genomic Med. Published online April 24, 2018. doi:10.1002/mgg3.400