Thormaehlen AS, Schuberth C, Won HH, et al. Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction. PLoS Genet. 2015;11(2):e1004855. doi:10.1371/journal.pgen.1004855
Kruglyak L, Lander ES. Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet. 1995;57(2):439-54.
Vinson JP, Jaffe DB, O’Neill K, et al. Assembly of polymorphic genomes: algorithms and application to Ciona savignyi. Genome Res. 2005;15(8):1127-35. doi:10.1101/gr.3722605
Viatte S, Plant D, Han B, et al. Association of HLA-DRB1 haplotypes with rheumatoid arthritis severity, mortality, and treatment response. JAMA. 2015;313(16):1645-56. doi:10.1001/jama.2015.3435
Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet. 1996;58(2):255-62.
Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387-97. doi:10.1016/j.ccr.2005.03.023
Palkopoulou E, Mallick S, Skoglund P, et al. Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth. Curr Biol. 2015;25(10):1395-400. doi:10.1016/j.cub.2015.04.007
Hulbert SH, Ilott TW, Legg EJ, Lincoln SE, Lander ES, Michelmore RW. Genetic analysis of the fungus, Bremia lactucae, using restriction fragment length polymorphisms. Genetics. 1988;120(4):947-58.
Tucker EJ, Hershman SG, Köhrer C, et al. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metab. 2011;14(3):428-34. doi:10.1016/j.cmet.2011.07.010
Ruchi R, Genovese G, Lee J, et al. Copy Number Variation at the APOL1 Locus. PLoS One. 2015;10(5):e0125410. doi:10.1371/journal.pone.0125410