Cassa CA, Tong MY, Jordan DM. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat. 2013;34(9):1216-20. doi:10.1002/humu.22375
Roosing S, Hofree M, Kim S, et al. Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. Elife. 2015;4:e06602. doi:10.7554/eLife.06602
Wang DG, Fan JB, Siao CJ, et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science. 1998;280(5366):1077-82.
Prüfer K, Racimo F, Patterson N, et al. The complete genome sequence of a Neanderthal from the Altai Mountains. Nature. 2014;505(7481):43-9. doi:10.1038/nature12886
Rees E, Kirov G, Walters JT, et al. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia. Transl Psychiatry. 2015;5:e607. doi:10.1038/tp.2015.99
TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Crosby J, Peloso GM, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014;371(1):22-31. doi:10.1056/NEJMoa1307095
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
Wang AT, Kim T, Wagner JE, et al. A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous Recombination. Mol Cell. 2015;59(3):478-90. doi:10.1016/j.molcel.2015.07.009
Horvath S, Windemuth C, Knapp M. The disequilibrium maximum-likelihood-binomial test does not replace the transmission/disequilibrium test. Am J Hum Genet. 2000;67(2):531-4. doi:10.1086/303014
Carroll JB, Deik A, Fossale E, et al. HdhQ111 Mice Exhibit Tissue Specific Metabolite Profiles that Include Striatal Lipid Accumulation. PLoS One. 2015;10(8):e0134465. doi:10.1371/journal.pone.0134465