Walsh R, Thomson KL, Ware JS, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017;19(2):192-203. doi:10.1038/gim.2016.90
Publications
Cerqueira GC, Earl AM, Ernst CM, et al. Multi-institute analysis of carbapenem resistance reveals remarkable diversity, unexplained mechanisms, and limited clonal outbreaks. Proc Natl Acad Sci U S A. 2017;114(5):1135-1140. doi:10.1073/pnas.1616248114
McCarthy MI, MacArthur DG. Human disease genomics: from variants to biology. Genome Biol. 2017;18(1):20. doi:10.1186/s13059-017-1160-z
Kim S, De Jonghe J, Kulesa AB, et al. High-throughput automated microfluidic sample preparation for accurate microbial genomics. Nat Commun. 2017;8:13919. doi:10.1038/ncomms13919
Hirschhorn K, Hirschhorn R, Hirschhorn JN. A Conversation with Kurt and Rochelle Hirschhorn. Annu Rev Genomics Hum Genet. 2017. doi:10.1146/annurev-genom-080316-090927
Ghazani AA, Oliver NM, St Pierre JP, et al. Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study. Genet Med. 2017. doi:10.1038/gim.2016.191
Mehta RS, Nishihara R, Cao Y, et al. Association of Dietary Patterns With Risk of Colorectal Cancer Subtypes Classified by Fusobacterium Nucleatum in Tumor Tissue. JAMA Oncol. 2017. doi:10.1001/jamaoncol.2016.6374
Liddelow SA, Guttenplan KA, Clarke LE, et al. Neurotoxic reactive astrocytes are induced by activated microglia. Nature. 2017;541(7638):481-487. doi:10.1038/nature21029
Imielinski M, Guo G, Meyerson M. Insertions and Deletions Target Lineage-Defining Genes in Human Cancers. Cell. 2017;168(3):460-472.e14. doi:10.1016/j.cell.2016.12.025
Li H, Mar BG, Zhang H, et al. The EMT regulator ZEB2 is a novel dependency of human and murine acute myeloid leukemia. Blood. 2017;129(4):497-508. doi:10.1182/blood-2016-05-714493