Martin PB, et al. (2020) NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nat Commun 11(1):4625 PMID:32934225
Van Bergen NJ, et al. (2020) Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Brain 143(1):112-130 PMID:31794024
Cheng H, et al. (2018) Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet 102(5):985-994 PMID:29656860