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Items: 1 to 20 of 36

1.

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.

Bick D, Fraser PC, Gutzeit MF, Harris JM, Hambuch TM, Helbling DC, Jacob HJ, Kersten JN, Leuthner SR, May T, North PE, Prisco SZ, Schuler BA, Shimoyama M, Strong KA, Van Why SK, Veith R, Verbsky J, Weborg AM Jr, Wilk BM, Willoughby RE Jr, Worthey EA, Dimmock DP.

J Pediatr Genet. 2017 Jun;6(2):61-76. doi: 10.1055/s-0036-1593968. Epub 2016 Nov 28.

PMID:
28496993
2.

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.

Lubin IM, Aziz N, Babb LJ, Ballinger D, Bisht H, Church DM, Cordes S, Eilbeck K, Hyland F, Kalman L, Landrum M, Lockhart ER, Maglott D, Marth G, Pfeifer JD, Rehm HL, Roy S, Tezak Z, Truty R, Ullman-Cullere M, Voelkerding KV, Worthey EA, Zaranek AW, Zook JM.

J Mol Diagn. 2017 May;19(3):417-426. doi: 10.1016/j.jmoldx.2016.12.001. Epub 2017 Mar 18.

PMID:
28315672
3.

Molecular modeling in the age of clinical genomics, the enterprise of the next generation.

Prokop JW, Lazar J, Crapitto G, Smith DC, Worthey EA, Jacob HJ.

J Mol Model. 2017 Mar;23(3):75. doi: 10.1007/s00894-017-3258-3. Epub 2017 Feb 15.

PMID:
28204942
4.

Good laboratory practice for clinical next-generation sequencing informatics pipelines.

Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM.

Nat Biotechnol. 2015 Jul;33(7):689-93. doi: 10.1038/nbt.3237. No abstract available.

PMID:
26154004
5.

Disease pathways at the Rat Genome Database Pathway Portal: genes in context-a network approach to understanding the molecular mechanisms of disease.

Petri V, Hayman GT, Tutaj M, Smith JR, Laulederkind SJ, Wang SJ, Nigam R, De Pons J, Shimoyama M, Dwinell MR, Worthey EA, Jacob HJ.

Hum Genomics. 2014 Sep 30;8:17. doi: 10.1186/s40246-014-0017-8.

6.

Analysis and annotation of whole-genome or whole-exome sequencing-derived variants for clinical diagnosis.

Worthey EA.

Curr Protoc Hum Genet. 2013 Oct 18;79:Unit 9.24.. doi: 10.1002/0471142905.hg0924s79.

PMID:
24510652
7.

The pathway ontology - updates and applications.

Petri V, Jayaraman P, Tutaj M, Hayman GT, Smith JR, De Pons J, Laulederkind SJ, Lowry TF, Nigam R, Wang SJ, Shimoyama M, Dwinell MR, Munzenmaier DH, Worthey EA, Jacob HJ.

J Biomed Semantics. 2014 Feb 5;5(1):7. doi: 10.1186/2041-1480-5-7.

8.

Rat Strain Ontology: structured controlled vocabulary designed to facilitate access to strain data at RGD.

Nigam R, Munzenmaier DH, Worthey EA, Dwinell MR, Shimoyama M, Jacob HJ.

J Biomed Semantics. 2013 Nov 22;4(1):36. doi: 10.1186/2041-1480-4-36.

9.

The clinical measurement, measurement method and experimental condition ontologies: expansion, improvements and new applications.

Smith JR, Park CA, Nigam R, Laulederkind SJ, Hayman GT, Wang SJ, Lowry TF, Petri V, Pons JD, Tutaj M, Liu W, Worthey EA, Shimoyama M, Dwinell MR.

J Biomed Semantics. 2013 Oct 8;4(1):26. doi: 10.1186/2041-1480-4-26.

10.

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.

Worthey EA, Raca G, Laffin JJ, Wilk BM, Harris JM, Jakielski KJ, Dimmock DP, Strand EA, Shriberg LD.

J Neurodev Disord. 2013 Oct 2;5(1):29. doi: 10.1186/1866-1955-5-29.

11.

IreB, a Ser/Thr kinase substrate, influences antimicrobial resistance in Enterococcus faecalis.

Hall CL, Tschannen M, Worthey EA, Kristich CJ.

Antimicrob Agents Chemother. 2013 Dec;57(12):6179-86. doi: 10.1128/AAC.01472-13. Epub 2013 Sep 30.

12.

Rat Genome Database: a unique resource for rat, human, and mouse quantitative trait locus data.

Nigam R, Laulederkind SJ, Hayman GT, Smith JR, Wang SJ, Lowry TF, Petri V, De Pons J, Tutaj M, Liu W, Jayaraman P, Munzenmaier DH, Worthey EA, Dwinell MR, Shimoyama M, Jacob HJ.

Physiol Genomics. 2013 Sep 16;45(18):809-16. doi: 10.1152/physiolgenomics.00065.2013. Epub 2013 Jul 23.

13.

Genomics in clinical practice: lessons from the front lines.

Jacob HJ, Abrams K, Bick DP, Brodie K, Dimmock DP, Farrell M, Geurts J, Harris J, Helbling D, Joers BJ, Kliegman R, Kowalski G, Lazar J, Margolis DA, North P, Northup J, Roquemore-Goins A, Scharer G, Shimoyama M, Strong K, Taylor B, Tsaih SW, Tschannen MR, Veith RL, Wendt-Andrae J, Wilk B, Worthey EA.

Sci Transl Med. 2013 Jul 17;5(194):194cm5. doi: 10.1126/scitranslmed.3006468.

PMID:
23863829
14.

Analysis of disease-associated objects at the Rat Genome Database.

Wang SJ, Laulederkind SJ, Hayman GT, Smith JR, Petri V, Lowry TF, Nigam R, Dwinell MR, Worthey EA, Munzenmaier DH, Shimoyama M, Jacob HJ.

Database (Oxford). 2013 Jun 21;2013:bat046. doi: 10.1093/database/bat046. Print 2013.

15.

The Rat Genome Database 2013--data, tools and users.

Laulederkind SJ, Hayman GT, Wang SJ, Smith JR, Lowry TF, Nigam R, Petri V, de Pons J, Dwinell MR, Shimoyama M, Munzenmaier DH, Worthey EA, Jacob HJ.

Brief Bioinform. 2013 Jul;14(4):520-6. doi: 10.1093/bib/bbt007. Epub 2013 Feb 22.

16.

Copy number variation analysis in 98 individuals with PHACE syndrome.

Siegel DH, Shieh JT, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U.

J Invest Dermatol. 2013 Mar;133(3):677-84. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25.

17.

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP.

Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158.

PMID:
21173700
18.

A timely arrival for genomic medicine.

Mayer AN, Dimmock DP, Arca MJ, Bick DP, Verbsky JW, Worthey EA, Jacob HJ, Margolis DA.

Genet Med. 2011 Mar;13(3):195-6. doi: 10.1097/GIM.0b013e3182095089. No abstract available.

PMID:
21169843
19.

Sequencing of the rat genome and databases.

Worthey EA, Stoddard AJ, Jacob HJ.

Methods Mol Biol. 2010;597:33-53. doi: 10.1007/978-1-60327-389-3_3.

PMID:
20013224
20.

The Rat Genome Database 2009: variation, ontologies and pathways.

Dwinell MR, Worthey EA, Shimoyama M, Bakir-Gungor B, DePons J, Laulederkind S, Lowry T, Nigram R, Petri V, Smith J, Stoddard A, Twigger SN, Jacob HJ; RGD Team.

Nucleic Acids Res. 2009 Jan;37(Database issue):D744-9. doi: 10.1093/nar/gkn842. Epub 2008 Nov 7.

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