ELIZABETH A. WORTHEY: search on Z-Library

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1

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

Worthey, Elizabeth A, Raca, Gordana, Laffin, Jennifer J, Wilk, Brandon M, Harris, Jeremy M, Jakielski, Kathy J, Dimmock, David P, Strand, Edythe A, Shriberg, Lawrence D

Journal:

Journal of Neurodevelopmental Disorders

Year:

2013

Language:

english

File:

PDF, 298 KB

english, 2013

2

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

Manolio, Teri A., Fowler, Douglas M., Starita, Lea M., Haendel, Melissa A., MacArthur, Daniel G., Biesecker, Leslie G., Worthey, Elizabeth, Chisholm, Rex L., Green, Eric D., Jacob, Howard J., McLeod,

Journal:

Year:

2017

Language:

english

File:

PDF, 352 KB

english, 2017

3

Crystal structure of glyceraldehyde-3-phosphate dehydrogenase from Plasmodium falciparum at 2.25 Å resolution reveals intriguing extra electron density in the active site

Mark A. Robien, Jürgen Bosch, Frederick S. Buckner, Wesley C. E. Van Voorhis, Elizabeth A. Worthey, Peter Myler, Christopher Mehlin, Erica E. Boni, Oleksandr Kalyuzhniy, Lori Anderson, Angela Lauricel

Journal:

Proteins: Structure, Function, and Bioinformatics

Year:

2006

Language:

english

File:

PDF, 502 KB

english, 2006

4

Crystal structures and proposed structural/functional classification of three protozoan proteins from the isochorismatase superfamily

Jonathan Caruthers, Frank Zucker, Elizabeth Worthey, Peter J. Myler, Fred Buckner, Wes Van Voorhuis, Chris Mehlin, Erica Boni, Tiffany Feist, Joseph Luft, Stacey Gulde, Angela Lauricella, Oleksandr Ka

Journal:

Protein Science

Year:

2005

Language:

english

File:

PDF, 706 KB

english, 2005

5

A Novel XIAP Mutation Detected by Genome Wide Sequencing Causes Early Onset Inflammatory Bowel Disease

James Verbsky, Grant Syverson, Benedetta Bonacci, Jaime Serpe, Vikram Dasu, Elizabeth Worthey, David Dimmock, Alan Mayer, Howard Jacob, John Routes

Journal:

Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 43 KB

english, 2010

6

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

Séverine Monnerat, Santiago Martinez-Calvillo, Elizabeth Worthey, Peter J. Myler, Kenneth D. Stuart, Nicolas Fasel

Journal:

Molecular and Biochemical Parasitology

Year:

2004

Language:

english

File:

PDF, 316 KB

english, 2004

7

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

Alka Saxena, Elizabeth A. Worthey, Shaofeng Yan, Aaron Leland, Kenneth D. Stuart, Peter J. Myler

Journal:

Molecular and Biochemical Parasitology

Year:

2003

Language:

english

File:

PDF, 410 KB

english, 2003

8

Taking U out, with two nucleases?

I Saira Mian, Elizabeth A Worthey, Reza Salavati

Journal:

BMC Bioinformatics

Year:

2006

Language:

english

File:

PDF, 2.85 MB

english, 2006

9

Comparative analysis of the kinomes of three pathogenic trypanosomatids:Leishmania major,Trypanosoma bruceiandTrypanosoma cruzi

Marilyn Parsons, Elizabeth A Worthey, Pauline N Ward, Jeremy C Mottram

Journal:

Year:

2005

Language:

english

File:

PDF, 900 KB

english, 2005

10

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

Worthey, Elizabeth A, Mayer, Alan N, Syverson, Grant D, Helbling, Daniel, Bonacci, Benedetta B, Decker, Brennan, Serpe, Jaime M, Dasu, Trivikram, Tschannen, Michael R, Veith, Regan L, Basehore, Monica

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 1.47 MB

english, 2011

11

Inactivation of Th1 and Th2 Cells by Feeding Ovalbumin

ALLAN McI MOWAT, MARGARET STEEL, ELIZABETH A. WORTHEY, PETER J. KEWIN, PAUL GARSIDE

Journal:

Annals of the New York Academy of Sciences

Year:

1996

Language:

english

File:

PDF, 461 KB

english, 1996

12

Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic

Elizabeth Worthey, David Bick, David Dimmock, Mary Shimoyama…

Journal:

BMC Proceedings

Year:

2012

Language:

english

File:

PDF, 83 KB

english, 2012

13

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

Nigam, Rajni, Munzenmaier, Diane H, Worthey, Elizabeth A, Dwinell, Melinda R, Shimoyama, Mary, Jacob, Howard J

Journal:

Journal of Biomedical Semantics

Year:

2013

Language:

english

File:

PDF, 1.05 MB

english, 2013

14

Using Fragment Cocktail Crystallography To Assist Inhibitor Design of Trypanosoma brucei Nucleoside 2-Deoxyribosyltransferase †

Bosch, Jürgen, Robien, Mark A., Mehlin, Christopher, Boni, Erica, Riechers, Aaron, Buckner, Frederick S., Van Voorhis, Wesley C., Myler, Peter J., Worthey, Elizabeth A., DeTitta, George, Luft, Joseph

Journal:

Journal of Medicinal Chemistry

Year:

2006

Language:

english

File:

PDF, 736 KB

english, 2006

15

In the Absence of Evidentiary Harm, Existing Societal Norms Regarding Parental Authority Should Prevail

Strong, Kimberly A., Derse, Arthur R., Dimmock, David P., Zusevics, Kaija L., Jeruzal, Jessica, Worthey, Elizabeth, Bick, David, Scharer, Gunter, La Pean Kirschner, Alison, Spellecy, Ryan, Farrell, Mi

Journal:

American Journal of Bioethics

Year:

2014

Language:

english

File:

PDF, 82 KB

english, 2014

16

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

Petri, Victoria, Hayman, G, Tutaj, Marek, Smith, Jennifer R, Laulederkind, Stanley, Wang, Shur-Jen, Nigam, Rajni, De Pons, Jeff, Shimoyama, Mary, Dwinell, Melinda R, Worthey, Elizabeth A, Jacob, Howar

Journal:

Year:

2014

Language:

english

File:

PDF, 5.46 MB

english, 2014

17

A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A

Oberle, Edward J., Verbsky, James W., Routes, John, Hintermeyer, Mary, Worthey, Elizabeth, Dasu, Trivikram, Bengtson, Christine, Buzzell, Alyssa

Journal:

Arthritis & Rheumatology

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

18

A timely arrival for genomic medicine

Mayer, Alan N, Dimmock, David P, Arca, Marjorie J, Bick, David P, Verbsky, James W, Worthey, Elizabeth A, Jacob, Howard J, Margolis, David A

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 79 KB

english, 2011

19

P-236 Paneth Cell Gene Expression and Dysbiosis in Pediatric Crohn’s Disease Patients

Gurram, Bhaskar, Stephens, Michael, Lam, Vy, Hayward, Michael, Bousounis, Pavlos, Broeckel, Ulrich, Worthey, Elizabeth, Simpson, Pippa, Salzman, Nita

Journal:

Inflammatory Bowel Diseases

Year:

2013

Language:

english

File:

PDF, 906 KB

english, 2013

20

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

Prokop, Jeremy W., Lazar, Jozef, Crapitto, Gabrielle, Smith, D. Casey, Worthey, Elizabeth A., Jacob, Howard J.

Journal:

Journal of Molecular Modeling

Year:

2017

Language:

english

File:

PDF, 6.69 MB

english, 2017

21

[American Thoracic Society American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California - ()] A60. COPD: OMICS - The Respiratory Disease Portal At The Rat Genome Database: A Genomic Resource For Asthma, COPD, And Other Respiratory Diseases

Dwinell, Melinda, Laulederkind, Stan, Hayman, Tom, Lowry, Timothy, Nigam, Rajni, Petri, Victoria, Smith, Jennifer, De Pons, Jeff, Tutaj, Marek, Liu, Weisong, Jayaraman, Pushkala, Worthey, Elizabeth, M

Year:

2012

Language:

english

File:

PDF, 28 KB

english, 2012

22

RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy

Schilter, Kala F., Steiner, Jack E., Demos, Wendy, Maheshwari, Mohit, Prokop, Jeremy W., Worthey, Elizabeth, Drolet, Beth A., Siegel, Dawn H.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.90 MB

english, 2017

23

Genome sequencing in the clinic: the past, present, and future of genomic medicine

Prokop, Jeremy W., May, Thomas, Strong, Kim, Bilinovich, Stephanie M., Bupp, Caleb, Rajasekaran, Surender, Worthey, Elizabeth A., Lazar, Jozef

Journal:

Physiological Genomics

Year:

2018

Language:

english

File:

PDF, 2.30 MB

english, 2018

24

Plasma genetic and genomic abnormalities predict treatment response and clinical outcome in advanced prostate cancer

Xia, Shu, Kohli, Manish, Du, Meijun, Dittmar, Rachel L., Lee, Adam, Nandy, Debashis, Yuan, Tiezheng, Guo, Yongchen, Wang, Yuan, Tschannen, Michael R., Worthey, Elizabeth, Jacob, Howard, See, William,

Journal:

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

25

Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency

Lekbua, Asama, Ouahed, Jodie, O’Connell, Amy E., Kahn, Stacy A., Goldsmith, Jeffrey D., Imamura, Toshihiko, Duncan, Christine N., Kelsen, Judith R., Worthey, Elizabeth, Snapper, Scott B., Softic, Sami

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2019

File:

PDF, 560 KB

2019

26

Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis

Wilk, Melissa A., Braun, Andrew T., Farrell, Philip M., Laxova, Anita, Brown, Donna M., Holt, James M., Birch, Camille L., Sosonkina, Nadiya, Wilk, Brandon M., Worthey, Elizabeth A.

Journal:

Molecular Case Studies

Year:

2020

Language:

english

File:

PDF, 1.55 MB

english, 2020

27

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Marshall, Christian R., Chowdhury, Shimul, Taft, Ryan J., Lebo, Mathew S., Buchan, Jillian G., Harrison, Steven M., Rowsey, Ross, Klee, Eric W., Liu, Pengfei, Worthey, Elizabeth A., Jobanputra, Vaideh

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 989 KB

2020