Works matching IS 10614036 AND DT 2014 AND VI 46 AND IP 2
Results: 25
Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment.
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- Nature Genetics, 2014, v. 46, n. 2, p. 205, doi. 10.1038/ng.2871
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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.
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- Nature Genetics, 2014, v. 46, n. 2, p. 161, doi. 10.1038/ng.2868
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Standards for clinical use of genetic variants.
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- Nature Genetics, 2014, v. 46, n. 2, p. 93, doi. 10.1038/ng.2893
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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling.
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- Nature Genetics, 2014, v. 46, n. 2, p. 188, doi. 10.1038/ng.2851
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- Article
Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models.
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- Nature Genetics, 2014, v. 46, n. 2, p. 152, doi. 10.1038/ng.2853
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Advantages and pitfalls in the application of mixed-model association methods.
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- Nature Genetics, 2014, v. 46, n. 2, p. 100, doi. 10.1038/ng.2876
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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
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- Nature Genetics, 2014, v. 46, n. 2, p. 107, doi. 10.1038/ng.2854
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- Article
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
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- Nature Genetics, 2014, v. 46, n. 2, p. 116, doi. 10.1038/ng.2874
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
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- Nature Genetics, 2014, v. 46, n. 2, p. 182, doi. 10.1038/ng.2855
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GADL1 variants and lithium response.
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- Nature Genetics, 2014, v. 46, n. 2, p. 99, doi. 10.1038/ng.2886
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Gene expression in early development.
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- Nature Genetics, 2014, v. 46, n. 2, p. 99, doi. 10.1038/ng.2884
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Dynamic enhancer usage during development.
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- Nature Genetics, 2014, v. 46, n. 2, p. 99, doi. 10.1038/ng.2885
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HOXB13, RFX6 and prostate cancer risk.
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- Nature Genetics, 2014, v. 46, n. 2, p. 94, doi. 10.1038/ng.2881
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A prostate cancer susceptibility allele at 6q22 increases RFX6 expression by modulating HOXB13 chromatin binding.
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- Nature Genetics, 2014, v. 46, n. 2, p. 126, doi. 10.1038/ng.2862
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A RAG driver on the road to pediatric ALL.
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- Nature Genetics, 2014, v. 46, n. 2, p. 96, doi. 10.1038/ng.2879
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Recurrent mutations in epigenetic regulators, RHOA and FYN kinase in peripheral T cell lymphomas.
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- Nature Genetics, 2014, v. 46, n. 2, p. 166, doi. 10.1038/ng.2873
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Antagonistic roles of ubiquitin ligase HEI10 and SUMO ligase RNF212 regulate meiotic recombination.
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- Nature Genetics, 2014, v. 46, n. 2, p. 194, doi. 10.1038/ng.2858
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A cistrome roadmap for understanding pancreatic islet biology.
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- Nature Genetics, 2014, v. 46, n. 2, p. 95, doi. 10.1038/ng.2880
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Synthetic modeling of developmental enhancers.
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- Nature Genetics, 2014, v. 46, n. 2, p. 99, doi. 10.1038/ng.2888
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Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
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- Nature Genetics, 2014, v. 46, n. 2, p. 136, doi. 10.1038/ng.2870
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Somatic RHOA mutation in angioimmunoblastic T cell lymphoma.
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- Nature Genetics, 2014, v. 46, n. 2, p. 171, doi. 10.1038/ng.2872
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Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma.
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- Nature Genetics, 2014, v. 46, n. 2, p. 176, doi. 10.1038/ng.2856
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A CRISPR method for genome-wide screening.
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- Nature Genetics, 2014, v. 46, n. 2, p. 99, doi. 10.1038/ng.2887
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Meta-analysis of gene-level tests for rare variant association.
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- Nature Genetics, 2014, v. 46, n. 2, p. 200, doi. 10.1038/ng.2852
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Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.
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- Nature Genetics, 2014, v. 46, n. 2, p. 144, doi. 10.1038/ng.2850
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