Rheinbay E, Parasuraman P, Grimsby J, et al. Recurrent and functional regulatory mutations in breast cancer. Nature. 2017;547(7661):55-60. doi:10.1038/nature22992
de Welzen L, Eldholm V, Maharaj K, Manson AL, Earl AM, Pym AS. Whole-Transcriptome and -Genome Analysis of Extensively Drug-Resistant Mycobacterium tuberculosis Clinical Isolates Identifies Downregulation of as a Mechanism of Ethionamide Resistance. Antimicrob Agents Chemother. 2017;61(12). doi:10.1128/AAC.01461-17
Su SC, Seo J, Pan JQ, et al. Regulation of N-type voltage-gated calcium channels and presynaptic function by cyclin-dependent kinase 5. Neuron. 2012;75(4):675-87. doi:10.1016/j.neuron.2012.06.023
Izar B, Sharfman W, Hodi S, et al. A first-in-human phase I, multicenter, open-label, dose-escalation study of the oral RAF/VEGFR-2 inhibitor (RAF265) in locally advanced or metastatic melanoma independent from BRAF mutation status. Cancer Med. 2017;6(8):1904-1914. doi:10.1002/cam4.1140
Stolte B, Iniguez AB, Dharia NV, et al. Genome-scale CRISPR-Cas9 screen identifies druggable dependencies in wild-type Ewing sarcoma. J Exp Med. 2018;215(8):2137-2155. doi:10.1084/jem.20171066
Živná M, Kidd K, Přistoupilová A, et al. Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease. J Am Soc Nephrol. 2018;29(9):2418-2431. doi:10.1681/ASN.2018020180
Alver M, Palover M, Saar A, et al. Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia. Genet Med. 2019;21(5):1173-1180. doi:10.1038/s41436-018-0311-2
Hamdan FF, Myers CT, Cossette P, et al. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017;101(5):664-685. doi:10.1016/j.ajhg.2017.09.008
Wardell CP, Fujita M, Yamada T, et al. Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. J Hepatol. 2018;68(5):959-969. doi:10.1016/j.jhep.2018.01.009
Ferrer CM, Alders M, Postma AV, et al. An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality. Genes Dev. 2018;32(5-6):373-388. doi:10.1101/gad.307330.117