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Items: 1 to 20 of 103

1.

PhenCode: connecting ENCODE data with mutations and phenotype.

Giardine B, Riemer C, Hefferon T, Thomas D, Hsu F, Zielenski J, Sang Y, Elnitski L, Cutting G, Trumbower H, Kern A, Kuhn R, Patrinos GP, Hughes J, Higgs D, Chui D, Scriver C, Phommarinh M, Patnaik SK, Blumenfeld O, Gottlieb B, Vihinen M, Väliaho J, Kent J, Miller W, Hardison RC.

Hum Mutat. 2007 Jun;28(6):554-62.

PMID:
17326095
2.

The ENCODEdb portal: simplified access to ENCODE Consortium data.

Elnitski LL, Shah P, Moreland RT, Umayam L, Wolfsberg TG, Baxevanis AD.

Genome Res. 2007 Jun;17(6):954-9.

3.

ENCODE whole-genome data in the UCSC Genome Browser.

Rosenbloom KR, Dreszer TR, Pheasant M, Barber GP, Meyer LR, Pohl A, Raney BJ, Wang T, Hinrichs AS, Zweig AS, Fujita PA, Learned K, Rhead B, Smith KE, Kuhn RM, Karolchik D, Haussler D, Kent WJ.

Nucleic Acids Res. 2010 Jan;38(Database issue):D620-5. doi: 10.1093/nar/gkp961. Epub 2009 Nov 17.

4.

ENCODE whole-genome data in the UCSC genome browser (2011 update).

Raney BJ, Cline MS, Rosenbloom KR, Dreszer TR, Learned K, Barber GP, Meyer LR, Sloan CA, Malladi VS, Roskin KM, Suh BB, Hinrichs AS, Clawson H, Zweig AS, Kirkup V, Fujita PA, Rhead B, Smith KE, Pohl A, Kuhn RM, Karolchik D, Haussler D, Kent WJ.

Nucleic Acids Res. 2011 Jan;39(Database issue):D871-5. doi: 10.1093/nar/gkq1017. Epub 2010 Oct 30.

5.

The UCSC Genome Browser database: update 2010.

Rhead B, Karolchik D, Kuhn RM, Hinrichs AS, Zweig AS, Fujita PA, Diekhans M, Smith KE, Rosenbloom KR, Raney BJ, Pohl A, Pheasant M, Meyer LR, Learned K, Hsu F, Hillman-Jackson J, Harte RA, Giardine B, Dreszer TR, Clawson H, Barber GP, Haussler D, Kent WJ.

Nucleic Acids Res. 2010 Jan;38(Database issue):D613-9. doi: 10.1093/nar/gkp939. Epub 2009 Nov 11.

6.

The UCSC Genome Browser database: 2014 update.

Karolchik D, Barber GP, Casper J, Clawson H, Cline MS, Diekhans M, Dreszer TR, Fujita PA, Guruvadoo L, Haeussler M, Harte RA, Heitner S, Hinrichs AS, Learned K, Lee BT, Li CH, Raney BJ, Rhead B, Rosenbloom KR, Sloan CA, Speir ML, Zweig AS, Haussler D, Kuhn RM, Kent WJ.

Nucleic Acids Res. 2014 Jan;42(Database issue):D764-70. doi: 10.1093/nar/gkt1168. Epub 2013 Nov 21.

7.

RNASeqBrowser: a genome browser for simultaneous visualization of raw strand specific RNAseq reads and UCSC genome browser custom tracks.

An J, Lai J, Wood DL, Sajjanhar A, Wang C, Tevz G, Lehman ML, Nelson CC.

BMC Genomics. 2015 Mar 1;16:145. doi: 10.1186/s12864-015-1346-2.

8.
9.

UCSC Data Integrator and Variant Annotation Integrator.

Hinrichs AS, Raney BJ, Speir ML, Rhead B, Casper J, Karolchik D, Kuhn RM, Rosenbloom KR, Zweig AS, Haussler D, Kent WJ.

Bioinformatics. 2016 May 1;32(9):1430-2. doi: 10.1093/bioinformatics/btv766. Epub 2016 Jan 6.

10.

Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

Claustres M, Horaitis O, Vanevski M, Cotton RG.

Genome Res. 2002 May;12(5):680-8.

11.

DRUMS: a human disease related unique gene mutation search engine.

Li Z, Liu X, Wen J, Xu Y, Zhao X, Li X, Liu L, Zhang X.

Hum Mutat. 2011 Oct;32(10):E2259-65. doi: 10.1002/humu.21556.

PMID:
21913285
12.

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.

Mickle JE, Cutting GR.

Clin Chest Med. 1998 Sep;19(3):443-58, v. Review.

PMID:
9759548
13.

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

Groman JD, Meyer ME, Wilmott RW, Zeitlin PL, Cutting GR.

N Engl J Med. 2002 Aug 8;347(6):401-7.

14.

LSDBs and How They Have Evolved.

Dalgleish R.

Hum Mutat. 2016 Jun;37(6):532-9. doi: 10.1002/humu.22979. Epub 2016 Mar 14. Review.

PMID:
26919551
15.

Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR.

Am J Hum Genet. 1997 Dec;61(6):1309-17.

16.
17.

ENCODE whole-genome data in the UCSC Genome Browser: update 2012.

Rosenbloom KR, Dreszer TR, Long JC, Malladi VS, Sloan CA, Raney BJ, Cline MS, Karolchik D, Barber GP, Clawson H, Diekhans M, Fujita PA, Goldman M, Gravell RC, Harte RA, Hinrichs AS, Kirkup VM, Kuhn RM, Learned K, Maddren M, Meyer LR, Pohl A, Rhead B, Wong MC, Zweig AS, Haussler D, Kent WJ.

Nucleic Acids Res. 2012 Jan;40(Database issue):D912-7. doi: 10.1093/nar/gkr1012. Epub 2011 Nov 9.

18.

Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses.

Sosnay PR, Salinas DB, White TB, Ren CL, Farrell PM, Raraigh KS, Girodon E, Castellani C.

J Pediatr. 2017 Feb;181S:S27-S32.e1. doi: 10.1016/j.jpeds.2016.09.063.

PMID:
28129809
19.

Locus-specific databases in cancer: what future in a post-genomic era? The TP53 LSDB paradigm.

Soussi T.

Hum Mutat. 2014 Jun;35(6):643-53. doi: 10.1002/humu.22518. Epub 2014 Mar 5. Review.

PMID:
24478183
20.

The UCSC Genome Browser database: update 2011.

Fujita PA, Rhead B, Zweig AS, Hinrichs AS, Karolchik D, Cline MS, Goldman M, Barber GP, Clawson H, Coelho A, Diekhans M, Dreszer TR, Giardine BM, Harte RA, Hillman-Jackson J, Hsu F, Kirkup V, Kuhn RM, Learned K, Li CH, Meyer LR, Pohl A, Raney BJ, Rosenbloom KR, Smith KE, Haussler D, Kent WJ.

Nucleic Acids Res. 2011 Jan;39(Database issue):D876-82. doi: 10.1093/nar/gkq963. Epub 2010 Oct 18.

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