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Items: 18

1.

Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.

Benaglio P, D'Antonio-Chronowska A, Ma W, Yang F, Young Greenwald WW, Donovan MKR, DeBoever C, Li H, Drees F, Singhal S, Matsui H, van Setten J, Sotoodehnia N, Gaulton KJ, Smith EN, D'Antonio M, Rosenfeld MG, Frazer KA.

Nat Genet. 2019 Oct;51(10):1506-1517. doi: 10.1038/s41588-019-0499-3. Epub 2019 Sep 30.

PMID:
31570892
2.

Components of genetic associations across 2,138 phenotypes in the UK Biobank highlight adipocyte biology.

Tanigawa Y, Li J, Justesen JM, Horn H, Aguirre M, DeBoever C, Chang C, Narasimhan B, Lage K, Hastie T, Park CY, Bejerano G, Ingelsson E, Rivas MA.

Nat Commun. 2019 Sep 6;10(1):4064. doi: 10.1038/s41467-019-11953-9.

3.

Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics.

McInnes G, Tanigawa Y, DeBoever C, Lavertu A, Olivieri JE, Aguirre M, Rivas MA.

Bioinformatics. 2019 Jul 15;35(14):2495-2497. doi: 10.1093/bioinformatics/bty999.

4.

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.

DeBoever C, Tanigawa Y, Lindholm ME, McInnes G, Lavertu A, Ingelsson E, Chang C, Ashley EA, Bustamante CD, Daly MJ, Rivas MA.

Nat Commun. 2018 Apr 24;9(1):1612. doi: 10.1038/s41467-018-03910-9.

5.

Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling.

Nariai N, Greenwald WW, DeBoever C, Li H, Frazer KA.

Genetics. 2017 Dec;207(4):1301-1312. doi: 10.1534/genetics.117.300435. Epub 2017 Oct 26.

6.

Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer.

D Antonio M, Weghorn D, D Antonio-Chronowska A, Coulet F, Olson KM, DeBoever C, Drees F, Arias A, Alakus H, Richardson AL, Schwab RB, Farley EK, Sunyaev SR, Frazer KA.

Nat Commun. 2017 Sep 5;8(1):436. doi: 10.1038/s41467-017-00100-x.

7.

iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.

Panopoulos AD, D'Antonio M, Benaglio P, Williams R, Hashem SI, Schuldt BM, DeBoever C, Arias AD, Garcia M, Nelson BC, Harismendy O, Jakubosky DA, Donovan MKR, Greenwald WW, Farnam K, Cook M, Borja V, Miller CA, Grinstein JD, Drees F, Okubo J, Diffenderfer KE, Hishida Y, Modesto V, Dargitz CT, Feiring R, Zhao C, Aguirre A, McGarry TJ, Matsui H, Li H, Reyna J, Rao F, O'Connor DT, Yeo GW, Evans SM, Chi NC, Jepsen K, Nariai N, Müller FJ, Goldstein LSB, Izpisua Belmonte JC, Adler E, Loring JF, Berggren WT, D'Antonio-Chronowska A, Smith EN, Frazer KA.

Stem Cell Reports. 2017 Apr 11;8(4):1086-1100. doi: 10.1016/j.stemcr.2017.03.012.

8.

Large-Scale Profiling Reveals the Influence of Genetic Variation on Gene Expression in Human Induced Pluripotent Stem Cells.

DeBoever C, Li H, Jakubosky D, Benaglio P, Reyna J, Olson KM, Huang H, Biggs W, Sandoval E, D'Antonio M, Jepsen K, Matsui H, Arias A, Ren B, Nariai N, Smith EN, D'Antonio-Chronowska A, Farley EK, Frazer KA.

Cell Stem Cell. 2017 Apr 6;20(4):533-546.e7. doi: 10.1016/j.stem.2017.03.009.

9.

Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer.

Carter H, Marty R, Hofree M, Gross AM, Jensen J, Fisch KM, Wu X, DeBoever C, Van Nostrand EL, Song Y, Wheeler E, Kreisberg JF, Lippman SM, Yeo GW, Gutkind JS, Ideker T.

Cancer Discov. 2017 Apr;7(4):410-423. doi: 10.1158/2159-8290.CD-16-1045. Epub 2017 Feb 10.

10.

High-level ROR1 associates with accelerated disease progression in chronic lymphocytic leukemia.

Cui B, Ghia EM, Chen L, Rassenti LZ, DeBoever C, Widhopf GF 2nd, Yu J, Neuberg DS, Wierda WG, Rai KR, Kay NE, Brown JR, Jones JA, Gribben JG, Frazer KA, Kipps TJ.

Blood. 2016 Dec 22;128(25):2931-2940. doi: 10.1182/blood-2016-04-712562. Epub 2016 Nov 4.

11.

Distinct splicing signatures affect converged pathways in myelodysplastic syndrome patients carrying mutations in different splicing regulators.

Qiu J, Zhou B, Thol F, Zhou Y, Chen L, Shao C, DeBoever C, Hou J, Li H, Chaturvedi A, Ganser A, Bejar R, Zhang DE, Fu XD, Heuser M.

RNA. 2016 Oct;22(10):1535-49. doi: 10.1261/rna.056101.116. Epub 2016 Aug 4.

12.

Systematic transcriptome analysis reveals tumor-specific isoforms for ovarian cancer diagnosis and therapy.

Barrett CL, DeBoever C, Jepsen K, Saenz CC, Carson DA, Frazer KA.

Proc Natl Acad Sci U S A. 2015 Jun 9;112(23):E3050-7. doi: 10.1073/pnas.1508057112. Epub 2015 May 26.

13.

Genetic and epigenetic profiling of CLL disease progression reveals limited somatic evolution and suggests a relationship to memory-cell development.

Smith EN, Ghia EM, DeBoever CM, Rassenti LZ, Jepsen K, Yoon KA, Matsui H, Rozenzhak S, Alakus H, Shepard PJ, Dai Y, Khosroheidari M, Bina M, Gunderson KL, Messer K, Muthuswamy L, Hudson TJ, Harismendy O, Barrett CL, Jamieson CH, Carson DA, Kipps TJ, Frazer KA.

Blood Cancer J. 2015 Apr 10;5:e303. doi: 10.1038/bcj.2015.14.

14.

Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers.

DeBoever C, Ghia EM, Shepard PJ, Rassenti L, Barrett CL, Jepsen K, Jamieson CH, Carson D, Kipps TJ, Frazer KA.

PLoS Comput Biol. 2015 Mar 13;11(3):e1004105. doi: 10.1371/journal.pcbi.1004105. eCollection 2015 Mar.

15.

MiningABs: mining associated biomarkers across multi-connected gene expression datasets.

Cheng CP, DeBoever C, Frazer KA, Liu YC, Tseng VS.

BMC Bioinformatics. 2014 Jun 8;15:173. doi: 10.1186/1471-2105-15-173.

16.

Whole transcriptome sequencing enables discovery and analysis of viruses in archived primary central nervous system lymphomas.

DeBoever C, Reid EG, Smith EN, Wang X, Dumaop W, Harismendy O, Carson D, Richman D, Masliah E, Frazer KA.

PLoS One. 2013 Sep 4;8(9):e73956. doi: 10.1371/journal.pone.0073956. eCollection 2013.

17.

Modeling the role of negative cooperativity in metabolic regulation and homeostasis.

Bush EC, Clark AE, DeBoever CM, Haynes LE, Hussain S, Ma S, McDermott MB, Novak AM, Wentworth JS.

PLoS One. 2012;7(11):e48920. doi: 10.1371/journal.pone.0048920. Epub 2012 Nov 9. Erratum in: PLoS One. 2013;8(9). doi: 10.1371/annotation/0e4bae85-55dd-4235-a39b-38d02cfd481e. McDermott, Matthew M [corrected to McDermott, Matthew B A].

18.

Context dependent substitution biases vary within the human genome.

Nevarez PA, DeBoever CM, Freeland BJ, Quitt MA, Bush EC.

BMC Bioinformatics. 2010 Sep 15;11:462. doi: 10.1186/1471-2105-11-462.

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