Abreu AP, Dauber A, Macedo DB, et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med. 2013;368(26):2467-75. doi:10.1056/NEJMoa1302160
Kukurba KR, Zhang R, Li X, et al. Allelic expression of deleterious protein-coding variants across human tissues. PLoS Genet. 2014;10(5):e1004304. doi:10.1371/journal.pgen.1004304
Ruderfer DM, Lim ET, Genovese G, et al. No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. Eur J Hum Genet. 2015;23(4):555-7. doi:10.1038/ejhg.2014.228
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
Brastianos PK, Carter SL, Santagata S, et al. Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets. Cancer Discov. 2015;5(11):1164-77. doi:10.1158/2159-8290.CD-15-0369
Sankaran VG, Ghazvinian R, Do R, et al. Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia. J Clin Invest. 2012;122(7):2439-43. doi:10.1172/JCI63597
Liu C, Yang X, Duffy B, et al. ATHLATES: accurate typing of human leukocyte antigen through exome sequencing. Nucleic Acids Res. 2013;41(14):e142. doi:10.1093/nar/gkt481
Van Allen EM, Wagle N, Stojanov P, et al. Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine. Nat Med. 2014;20(6):682-8. doi:10.1038/nm.3559
Muona M, Berkovic SF, Dibbens LM, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015;47(1):39-46. doi:10.1038/ng.3144
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