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Allele-Specific Chromatin Recruitment and Therapeutic Vulnerabilities of ESR1 Activating Mutations.

Jeselsohn R, Bergholz JS, Pun M, et al. Allele-Specific Chromatin Recruitment and Therapeutic Vulnerabilities of ESR1 Activating Mutations. Cancer Cell. 2018;33(2):173-186.e5. doi:10.1016/j.ccell.2018.01.004

Comprehensive Characterization of Cancer Driver Genes and Mutations.

Bailey MH, Tokheim C, Porta-Pardo E, et al. Comprehensive Characterization of Cancer Driver Genes and Mutations. Cell. 2018;173(2):371-385.e18. doi:10.1016/j.cell.2018.02.060

Changes in the Synaptic Proteome in Tauopathy and Rescue of Tau-Induced Synapse Loss by C1q Antibodies.

Dejanovic B, Huntley MA, De Mazière A, et al. Changes in the Synaptic Proteome in Tauopathy and Rescue of Tau-Induced Synapse Loss by C1q Antibodies. Neuron. 2018;100(6):1322-1336.e7. doi:10.1016/j.neuron.2018.10.014

Chemical suppression of a genetic mutation in a zebrafish model of aortic coarctation.

Peterson RT, Shaw SY, Peterson TA, et al. Chemical suppression of a genetic mutation in a zebrafish model of aortic coarctation. Nat Biotechnol. 2004;22(5):595-9. doi:10.1038/nbt963

Integrated genomic and molecular characterization of cervical cancer.

Cancer Genome Atlas Research Network, Albert Einstein College of Medicine, Analytical Biological Services, et al. Integrated genomic and molecular characterization of cervical cancer. Nature. 2017;543(7645):378-384. doi:10.1038/nature21386

Systematic, multiparametric analysis of Mycobacterium tuberculosis intracellular infection offers insight into coordinated virulence.

Barczak AK, Avraham R, Singh S, et al. Systematic, multiparametric analysis of Mycobacterium tuberculosis intracellular infection offers insight into coordinated virulence. PLoS Pathog. 2017;13(5):e1006363. doi:10.1371/journal.ppat.1006363

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.

Feichtinger RG, Oláhová M, Kishita Y, et al. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet. 2017;101(4):525-538. doi:10.1016/j.ajhg.2017.08.015

Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer.

Liu D, Abbosh P, Keliher D, et al. Mutational patterns in chemotherapy resistant muscle-invasive bladder cancer. Nat Commun. 2017;8(1):2193. doi:10.1038/s41467-017-02320-7

Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma.

Manier S, Park J, Capelletti M, et al. Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma. Nat Commun. 2018;9(1):1691. doi:10.1038/s41467-018-04001-5

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.

Khera AV, Chaffin M, Aragam KG, et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50(9):1219-1224. doi:10.1038/s41588-018-0183-z