Publications by authors named "Elizabeth Worthey"

53Publications

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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November 2018

Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.

Curr Protoc Hum Genet 2017 10 18;95:9.24.1-9.24.28. Epub 2017 Oct 18.

HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.

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October 2017

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.

Am J Med Genet A 2017 Sep 7;173(9):2557-2561. Epub 2017 Jul 7.

Departments of Dermatology and Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.

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September 2017

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

J Mol Model 2017 Mar 15;23(3):75. Epub 2017 Feb 15.

HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, 35806, USA.

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March 2017

The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease.

Nucleic Acids Res 2015 Jan 29;43(Database issue):D743-50. Epub 2014 Oct 29.

Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA Department of Physiology, Medical College of Wisconsin, Milwaukee, WI 53226, USA.

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January 2015

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

Curr Protoc Hum Genet 2013 Oct 18;79:Unit 9.24.. Epub 2013 Oct 18.

Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin; The Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin; Department of Computer Science, University of Wisconsin, Milwaukee, Wisconsin.

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October 2013

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

J Biomed Semantics 2013 Nov 22;4(1):36. Epub 2013 Nov 22.

Human and Molecular Genetics Center, Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee 53226-3548, WI, USA.

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November 2013

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

J Neurodev Disord 2013 Oct 2;5(1):29. Epub 2013 Oct 2.

Waisman Center, University of Wisconsin-Madison, 1500 Highland Avenue, Madison, WI, 53705, USA.

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October 2013

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

Antimicrob Agents Chemother 2013 Dec 30;57(12):6179-86. Epub 2013 Sep 30.

Department of Microbiology and Molecular Genetics.

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December 2013

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

Database (Oxford) 2013 21;2013:bat046. Epub 2013 Jun 21.

Rat Genome Database, Human and Molecular Genetics Center, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA.

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October 2013

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

Brief Bioinform 2013 Jul 22;14(4):520-6. Epub 2013 Feb 22.

Human and Molecular Genetics Center, Medical College of Wisconsin, 8701 Watertown Plank Rd, Milwaukee, WI 53226-3548, USA.

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July 2013

A timely arrival for genomic medicine.

Genet Med 2011 Mar;13(3):195-6

Department of Pediatrics, Section of Gastroenterology, Division of Pediatric Surgery, The Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, Wisconsin, USA.

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March 2011

Sequencing of the rat genome and databases.

Methods Mol Biol 2010 ;597:33-53

Human & Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.

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February 2010

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

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

Department of Physiology and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.

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January 2009

Taking U out, with two nucleases?

BMC Bioinformatics 2006 Jun 16;7:305. Epub 2006 Jun 16.

Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, California 94720-8265, USA.

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June 2006

Structure of Lmaj006129AAA, a hypothetical protein from Leishmania major.

Acta Crystallogr Sect F Struct Biol Cryst Commun 2006 Mar 24;62(Pt 3):175-9. Epub 2006 Feb 24.

Department of Biochemistry, University of Washington, Seattle, WA 98195-7742, USA.

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March 2006

The genome of the kinetoplastid parasite, Leishmania major.

Authors:
Alasdair C Ivens Christopher S Peacock Elizabeth A Worthey Lee Murphy Gautam Aggarwal Matthew Berriman Ellen Sisk Marie-Adele Rajandream Ellen Adlem Rita Aert Atashi Anupama Zina Apostolou Philip Attipoe Nathalie Bason Christopher Bauser Alfred Beck Stephen M Beverley Gabriella Bianchettin Katja Borzym Gordana Bothe Carlo V Bruschi Matt Collins Eithon Cadag Laura Ciarloni Christine Clayton Richard M R Coulson Ann Cronin Angela K Cruz Robert M Davies Javier De Gaudenzi Deborah E Dobson Andreas Duesterhoeft Gholam Fazelina Nigel Fosker Alberto Carlos Frasch Audrey Fraser Monika Fuchs Claudia Gabel Arlette Goble André Goffeau David Harris Christiane Hertz-Fowler Helmut Hilbert David Horn Yiting Huang Sven Klages Andrew Knights Michael Kube Natasha Larke Lyudmila Litvin Angela Lord Tin Louie Marco Marra David Masuy Keith Matthews Shulamit Michaeli Jeremy C Mottram Silke Müller-Auer Heather Munden Siri Nelson Halina Norbertczak Karen Oliver Susan O'neil Martin Pentony Thomas M Pohl Claire Price Bénédicte Purnelle Michael A Quail Ester Rabbinowitsch Richard Reinhardt Michael Rieger Joel Rinta Johan Robben Laura Robertson Jeronimo C Ruiz Simon Rutter David Saunders Melanie Schäfer Jacquie Schein David C Schwartz Kathy Seeger Amber Seyler Sarah Sharp Heesun Shin Dhileep Sivam Rob Squares Steve Squares Valentina Tosato Christy Vogt Guido Volckaert Rolf Wambutt Tim Warren Holger Wedler John Woodward Shiguo Zhou Wolfgang Zimmermann Deborah F Smith Jenefer M Blackwell Kenneth D Stuart Bart Barrell Peter J Myler

Science 2005 Jul;309(5733):436-42

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

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July 2005

The genome sequence of Trypanosoma cruzi, etiologic agent of Chagas disease.

Science 2005 Jul;309(5733):409-15

Department of Parasite Genomics, Institute for Genomic Research, Rockville, MD 20850, USA.

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July 2005

Genomic organization and gene expression in a chromosomal region of Leishmania major.

Mol Biochem Parasitol 2004 Apr;134(2):233-43

Department of Biochemistry, University of Lausanne, Ch. des Boveresses 155, 1066 Epalinges, Switzerland.

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April 2004

Comparative analysis of editosome proteins in trypanosomatids.

Nucleic Acids Res 2003 Nov;31(22):6392-408

Seattle Biomedical Research Institute, Seattle, WA 98109, USA.

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November 2003

Evaluation of differential gene expression in Leishmania major Friedlin procyclics and metacyclics using DNA microarray analysis.

Mol Biochem Parasitol 2003 Jun;129(1):103-14

Department of Pathobiology, Seattle Biomedical Research Institute, 4 Nickerson Street, Seattle, WA 98109-1651, USA.

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June 2003