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
Kim H, Zheng S, Amini SS, et al. Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution. Genome Res. 2015;25(3):316-27. doi:10.1101/gr.180612.114
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
Moutsianas L, Agarwala V, Fuchsberger C, et al. The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet. 2015;11(4):e1005165. doi:10.1371/journal.pgen.1005165
Cousminer DL, Leinonen JT, Sarin AP, et al. Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty. PLoS One. 2015;10(6):e0128524. doi:10.1371/journal.pone.0128524
Crago AM, Chmielecki J, Rosenberg M, et al. Near universal detection of alterations in CTNNB1 and Wnt pathway regulators in desmoid-type fibromatosis by whole-exome sequencing and genomic analysis. Genes Chromosomes Cancer. 2015;54(10):606-15. doi:10.1002/gcc.22272
Stachler MD, Taylor-Weiner A, Peng S, et al. Paired exome analysis of Barrett’s esophagus and adenocarcinoma. Nat Genet. 2015;47(9):1047-55. doi:10.1038/ng.3343
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
Gupta S, Artomov M, Goggins W, Daly M, Tsao H. Gender Disparity and Mutation Burden in Metastatic Melanoma. J Natl Cancer Inst. 2015;107(11). doi:10.1093/jnci/djv221
Van Allen EM, Miao D, Schilling B, et al. Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. Science. 2015;350(6257):207-11. doi:10.1126/science.aad0095