Publications

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.

Nair S et al. Further delineation of the TRAPPC6B disorder: report on a new family and review.J Pediatr Genet. 2019;8(4):252-256. PMID: 31687267.

Marin-Valencia I et al. A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features. J Med Genet. 2018;55(1):48-54. PMID: 28626029.

Harripaul R et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.Mol Psychiatry. 2018;23(4):973-984. PMID: 28397838.