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Publications

A framework for the detection of de novo mutations in family-based sequencing data.

Francioli LC, Cretu-Stancu M, Garimella KV, et al. A framework for the detection of de novo mutations in family-based sequencing data. Eur J Hum Genet. 2017;25(2):227-233. doi:10.1038/ejhg.2016.147

Cerebral cortical neuron diversity and development at single-cell resolution.

Johnson MB, Walsh CA. Cerebral cortical neuron diversity and development at single-cell resolution. Curr Opin Neurobiol. 2017;42:9-16. doi:10.1016/j.conb.2016.11.001

The next generation of antimicrobial peptides (AMPs) as molecular therapeutic tools for the treatment of diseases with social and economic impacts.

da Cunha NB, Cobacho NB, Viana JFC, et al. The next generation of antimicrobial peptides (AMPs) as molecular therapeutic tools for the treatment of diseases with social and economic impacts. Drug Discov Today. 2017;22(2):234-248. doi:10.1016/j.drudis.2016.10.017

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA, Aukrust I, Flannick J, et al. Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population. Diabetes. 2017;66(2):335-346. doi:10.2337/db16-0460

Whole-Genome Sequencing of Mycobacterium tuberculosis Provides Insight into the Evolution and Genetic Composition of Drug-Resistant Tuberculosis in Belarus.

Wollenberg KR, Desjardins CA, Zalutskaya A, et al. Whole-Genome Sequencing of Mycobacterium tuberculosis Provides Insight into the Evolution and Genetic Composition of Drug-Resistant Tuberculosis in Belarus. J Clin Microbiol. 2017;55(2):457-469. doi:10.1128/JCM.02116-16

Feasibility, Safety, and Prediction of Complications for Minimally Invasive Myomectomy in Women With Large and Numerous Myomata.

Vargas MV, Moawad GN, Sievers C, et al. Feasibility, Safety, and Prediction of Complications for Minimally Invasive Myomectomy in Women With Large and Numerous Myomata. J Minim Invasive Gynecol. 2017;24(2):315-322. doi:10.1016/j.jmig.2016.11.014

Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin.

Stanton BZ, Hodges C, Calarco JP, et al. Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin. Nat Genet. 2017;49(2):282-288. doi:10.1038/ng.3735

Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states.

Kadoch C, Williams RT, Calarco JP, et al. Dynamics of BAF-Polycomb complex opposition on heterochromatin in normal and oncogenic states. Nat Genet. 2017;49(2):213-222. doi:10.1038/ng.3734

SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation.

Wang X, Lee RS, Alver BH, et al. SMARCB1-mediated SWI/SNF complex function is essential for enhancer regulation. Nat Genet. 2017;49(2):289-295. doi:10.1038/ng.3746

The histone demethylase UTX regulates the lineage-specific epigenetic program of invariant natural killer T cells.

Beyaz S, Kim JH, Pinello L, et al. The histone demethylase UTX regulates the lineage-specific epigenetic program of invariant natural killer T cells. Nat Immunol. 2017;18(2):184-195. doi:10.1038/ni.3644