Kim WK, Yun SJ, Kwon Y, et al. mRNAs containing NMD-competent premature termination codons are stabilized and translated under UPF1 depletion. Sci Rep. 2017;7(1):15833. doi:10.1038/s41598-017-16177-9.
Cefalù AB, Pirruccello JP, Noto D, et al. A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33(8):2021-5. doi:10.1161/ATVBAHA.112.301101.
Menezes MP, Waddell L, Lenk GM, et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014;24(8):666-70. doi:10.1016/j.nmd.2014.04.010.
Murdoch JD, Gupta AR, Sanders SJ, et al. No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS Genet. 2015;11(1):e1004852. doi:10.1371/journal.pgen.1004852.
Leoni V, Strittmatter L, Zorzi G, et al. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab. 2012;105(3):463-71. doi:10.1016/j.ymgme.2011.12.005.
Ahmed MY, Chioza BA, Rajab A, et al. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015;84(17):1745-50. doi:10.1212/WNL.0000000000001523.
Lunetta KL, Day FR, Sulem P, et al. Rare coding variants and X-linked loci associated with age at menarche. Nat Commun. 2015;6:7756. doi:10.1038/ncomms8756.
Musunuru K, Pirruccello JP, Do R, et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med. 2010;363(23):2220-7. doi:10.1056/NEJMoa1002926.