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Disease pathways at the Rat Genome Database Pathway Portal: Genes in context - a network approach to understanding the molecular mechanisms of disease.
Published in:
Human Genomics, 2014, v. 8, n. 1, p. 1, doi. 10.1186/s40246-014-0017-8
By:
- Petri, Victoria;
- Hayman, G. Thomas;
- Tutaj, Marek;
- Smith, Jennifer R.;
- Laulederkind, Stanley J. F.;
- Shur-Jen Wang;
- Nigam, Rajni;
- De Pons, Jeff;
- Shimoyama, Mary;
- Dwinell, Melinda R.;
- Worthey, Elizabeth A.;
- Jacob, Howard J.
Publication type:
Article
Impact of intrinsic and extrinsic risk factors on early‐onset lung disease in cystic fibrosis.
Published in:
Pediatric Pulmonology, 2023, v. 58, n. 11, p. 3071, doi. 10.1002/ppul.26625
By:
- Huang, Leslie;
- Lai, HuiChuan J.;
- Song, Jie;
- Zhao, Zijie;
- Lu, Qiongshi;
- Murali, Sangita G.;
- Brown, Donna M.;
- Worthey, Elizabeth A.;
- Farrell, Philip M.
Publication type:
Article
P3‐143: UTILITY OF GENOMIC SEQUENCING IN CASES OF EARLY‐ONSET AND FAMILIAL DEMENTIA.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, p. P986, doi. 10.1016/j.jalz.2019.06.3171
By:
- Cochran, Meagan E.;
- Cochran, J. Nicholas;
- McKinley, Emily;
- Amaral, Michelle D.;
- Moyer, Bryan;
- Lasseigne, Brittany N.;
- Gray, David;
- Lawlor, James M.J.;
- Prokop, Jeremy;
- Newberry, J. Scott;
- Worthey, Elizabeth A.;
- Geldmacher, David S.;
- Natelson Love, Marissa C.;
- Myers, Richard M.;
- Roberson, Erik D.
Publication type:
Article
Inactivation of Th1 and Th2 Cells by Feeding Ovalbumina.
Published in:
Annals of the New York Academy of Sciences, 1996, v. 778, n. 1, p. 122, doi. 10.1111/j.1749-6632.1996.tb21121.x
By:
- MOWAT, ALLAN;
- STEEL, MARGARET;
- WORTHEY, ELIZABETH A.;
- KEWIN, PETER J.;
- GARSIDE, PAUL
Publication type:
Article
The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease.
Published in:
Nucleic Acids Research, 2015, v. 43, n. D1, p. D743, doi. 10.1093/nar/gku1026
By:
- Shimoyama, Mary;
- De Pons, Jeff;
- Hayman, G. Thomas;
- Laulederkind, Stanley J.F.;
- Liu, Weisong;
- Nigam, Rajni;
- Petri, Victoria;
- Smith, Jennifer R.;
- Tutaj, Marek;
- Wang, Shur-Jen;
- Worthey, Elizabeth;
- Dwinell, Melinda;
- Jacob, Howard
Publication type:
Article
The Rat Genome Database 2009: variation, ontologies and pathways.
Published in:
Nucleic Acids Research, 2009, v. 37, n. suppl_1, p. D744
By:
- Dwinell, Melinda R.;
- Worthey, Elizabeth A.;
- Shimoyama, Mary;
- Bakir-Gungor, Burcu;
- DePons, Jeffrey;
- Laulederkind, Stanley;
- Lowry, Timothy;
- Nigram, Rajni;
- Petri, Victoria;
- Smith, Jennifer;
- Stoddard, Alexander;
- Twigger, Simon N.;
- Jacob, Howard J.
Publication type:
Article
RNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2557, doi. 10.1002/ajmg.a.38258
By:
- Schilter, Kala F.;
- Steiner, Jack E.;
- Demos, Wendy;
- Maheshwari, Mohit;
- Prokop, Jeremy W.;
- Worthey, Elizabeth;
- Drolet, Beth A.;
- Siegel, Dawn H.
Publication type:
Article
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Published in:
Nature Biotechnology, 2015, v. 33, n. 7, p. 689, doi. 10.1038/nbt.3237
By:
- Gargis, Amy S;
- Kalman, Lisa;
- Bick, David P;
- da Silva, Cristina;
- Dimmock, David P;
- Funke, Birgit H;
- Gowrisankar, Sivakumar;
- Hegde, Madhuri R;
- Kulkarni, Shashikant;
- Mason, Christopher E;
- Nagarajan, Rakesh;
- Voelkerding, Karl V;
- Worthey, Elizabeth A;
- Aziz, Nazneen;
- Barnes, John;
- Bennett, Sarah F;
- Bisht, Himani;
- Church, Deanna M;
- Dimitrova, Zoya;
- Gargis, Shaw R
Publication type:
Article
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Published in:
Journal of Molecular Modeling, 2017, v. 23, n. 3, p. 1, doi. 10.1007/s00894-017-3258-3
By:
- Prokop, Jeremy;
- Lazar, Jozef;
- Crapitto, Gabrielle;
- Smith, D.;
- Worthey, Elizabeth;
- Jacob, Howard
Publication type:
Article
The Rat Genome Database 2013—data, tools and users.
Published in:
Briefings in Bioinformatics, 2013, v. 14, n. 4, p. 520, doi. 10.1093/bib/bbt007
By:
- Laulederkind, Stanley J. F.;
- Hayman, G. Thomas;
- Wang, Shur-Jen;
- Smith, Jennifer R.;
- Lowry, Timothy F.;
- Nigam, Rajni;
- Petri, Victoria;
- de Pons, Jeff;
- Dwinell, Melinda R.;
- Shimoyama, Mary;
- Munzenmaier, Diane H.;
- Worthey, Elizabeth A.;
- Jacob, Howard J.
Publication type:
Article
The pathway ontology - updates and applications.
Published in:
Journal of Biomedical Semantics, 2014, v. 5, n. 1, p. 1, doi. 10.1186/2041-1480-5-7
By:
- Petri, Victoria;
- Jayaraman, Pushkala;
- Tutaj, Marek;
- Thomas Hayman, G.;
- Smith, Jennifer R.;
- Pons, Jeff De;
- Laulederkind, Stanley J. F.;
- Lowry, Timothy F.;
- Nigam, Rajni;
- Shur-Jen Wang;
- Shimoyama, Mary;
- Dwinell, Melinda R.;
- Munzenmaier, Diane H.;
- Worthey, Elizabeth A.;
- Jacob, Howard J.
Publication type:
Article
Rat Strain Ontology: structured controlled vocabulary designed to facilitate access to strain data at RGD.
Published in:
Journal of Biomedical Semantics, 2013, v. 4, n. 1, p. 2, doi. 10.1186/2041-1480-4-36
By:
- Nigam, Rajni;
- Munzenmaier, Diane H.;
- Worthey, Elizabeth A.;
- Dwinell, Melinda R.;
- Shimoyama, Mary;
- Jacob, Howard J.
Publication type:
Article
The clinical measurement, measurement method and experimental condition ontologies: expansion, improvements and new applications.
Published in:
Journal of Biomedical Semantics, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2041-1480-4-26
By:
- Smith, Jennifer R.;
- Park, Carissa A.;
- Nigam, Rajni;
- Laulederkind, Stanley J. F.;
- Thomas Hayman, G.;
- Shur-Jen Wang;
- Lowry, Timothy F.;
- Petri, Victoria;
- Pons, Jeff De;
- Tutaj, Marek;
- Weisong Liu;
- Worthey, Elizabeth A.;
- Shimoyama, Mary;
- Dwinell, Melinda R.
Publication type:
Article
Crystal structure of glyceraldehyde-3-phosphate dehydrogenase from Plasmodium falciparum at 2.25 Å resolution reveals intriguing extra electron density in the active site.
Published in:
Proteins, 2006, v. 62, n. 3, p. 570, doi. 10.1002/prot.20801
By:
- Robien, Mark A.;
- Bosch, Jürgen;
- Buckner, Frederick S.;
- Van Voorhis, Wesley C. E.;
- Worthey, Elizabeth A.;
- Myler, Peter;
- Mehlin, Christopher;
- Boni, Erica E.;
- Kalyuzhniy, Oleksandr;
- Anderson, Lori;
- Lauricella, Angela;
- Gulde, Stacy;
- Luft, Joseph R.;
- DeTitta, George;
- Caruthers, Jonathan M.;
- Hodgson, Keith O.;
- Soltis, Michael;
- Zucker, Frank;
- Verlinde, Christophe L. M. J.;
- Merritt, Ethan A.
Publication type:
Article
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00154-9
By:
- 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, Vaidehi;
- Dimmock, David;
- Kearney, Hutton M.;
- Bick, David;
- Kulkarni, Shashikant;
- Taylor, Stacie L.;
- Belmont, John W.;
- Stavropoulos, Dimitri J.;
- Lennon, Niall J.
Publication type:
Article
Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech.
Published in:
Journal of Neurodevelopmental Disorders, 2013, v. 5, n. 1, p. 1, doi. 10.1186/1866-1955-5-29
By:
- 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.
Publication type:
Article
Analysis of disease-associated objects at the Rat Genome Database.
Published in:
Database: The Journal of Biological Databases & Curation, 2013, v. 2013, p. 1, doi. 10.1093/database/bat046
By:
- Shur-Jen Wang;
- Laulederkind, Stanley J. F.;
- Hayman, G. T.;
- Smith, Jennifer R.;
- Petri, Victoria;
- Lowry, Timothy F.;
- Nigam, Rajni;
- Dwinell, Melinda R.;
- Worthey, Elizabeth A.;
- Munzenmaier, Diane H.;
- Shimoyama, Mary;
- Jacob, Howard J.
Publication type:
Article
Comparative analysis of the kinomes of three pathogenic trypanosomatids: Leishmania major, Trypanosoma brucei and Trypanosoma cruzi.
Published in:
BMC Genomics, 2005, v. 6, p. 1, doi. 10.1186/1471-2164-6-127
By:
- Parsons, Marilyn;
- Worthey, Elizabeth A;
- Ward, Pauline N;
- Mottram, Jeremy C
Publication type:
Article
Taking U out, with two nucleases?
Published in:
BMC Bioinformatics, 2006, v. 7, p. 305, doi. 10.1186/1471-2105-7-305
By:
- Mian, I Saira;
- Worthey, Elizabeth A;
- Salavati, Reza
Publication type:
Article
Comparative analysis of editosome proteins in trypanosomatids.
Published in:
Nucleic Acids Research, 2003, v. 31, n. 22, p. 6392, doi. 10.1093/nar/gkg870
By:
- Worthey, Elizabeth A.;
- Schnaufer, Achim;
- Mian, I. Saira;
- Stuart, Kenneth;
- Salavati, Reza
Publication type:
Article
Analysis of Systemic Sclerosis Candidate Genes from Whole Exome Sequencing of Pediatric Morphea Lesional Tissue.
Published in:
2014
By:
- Chiu, Yvonne E.;
- Siegel, Dawn H.;
- Drolet, Beth A.;
- Worthey, Elizabeth A.
Publication type:
Abstract
A Role for Selection in Regulating the Evolutionary Emergence of Disease-Causing and Other Coding CAG Repeats in Humans and Mice.
Published in:
Molecular Biology & Evolution, 2001, v. 18, n. 6, p. 1014, doi. 10.1093/oxfordjournals.molbev.a003873
By:
- Hancock, John M.;
- Worthey, Elizabeth A.;
- Santibáñez-Koref, Mauro F.
Publication type:
Article
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 14, p. 2454, doi. 10.1093/hmg/ddy146
By:
- Ning Liu;
- Schoch, Kelly;
- Xi Luo;
- Pena, Loren D. M.;
- Bhavana, Venkata Hemanjani;
- Kukolich, Mary K.;
- Stringer, Sarah;
- Powis, Zöe;
- Radtke, Kelly;
- Mroske, Cameron;
- Deak, Kristen L.;
- McDonald, Marie T.;
- McConkie-Rosell, Allyn;
- Markert, M. Louise;
- Kranz, Peter G.;
- Stong, Nicholas;
- Need, Anna C.;
- Bick, David;
- Amaral, Michelle D.;
- Worthey, Elizabeth A.
Publication type:
Article
Prostate cancer risk locus at 8q24 as a regulatory hub by physical interactions with multiple genomic loci across the genome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 1, p. 154, doi. 10.1093/hmg/ddu426
By:
- Meijun Du;
- Tiezheng Yuan;
- Schilter, Kala F.;
- Dittmar, Rachel L.;
- Mackinnon, Alexander;
- Xiaoyi Huang;
- Tschannen, Michael;
- Worthey, Elizabeth;
- Jacob, Howard;
- Shu Xia;
- Jianzhong Gao;
- Tillmans, Lori;
- Yan Lu;
- Pengyuan Liu;
- Thibodeau, Stephen N.;
- Liang Wang
Publication type:
Article
Ten simple rules for using public biological data for your research.
Published in:
PLoS Computational Biology, 2023, v. 19, n. 1, p. 1, doi. 10.1371/journal.pcbi.1010749
By:
- Oza, Vishal H.;
- Whitlock, Jordan H.;
- Wilk, Elizabeth J.;
- Uno-Antonison, Angelina;
- Wilk, Brandon;
- Gajapathy, Manavalan;
- Howton, Timothy C.;
- Trull, Austyn;
- Ianov, Lara;
- Worthey, Elizabeth A.;
- Lasseigne, Brittany N.
Publication type:
Article
The Leishmania genome project: new insights into gene organization and function.
Published in:
Medical Microbiology & Immunology, 2001, v. 190, n. 1/2, p. 9, doi. 10.1007/s004300100070
By:
- Myler, Peter;
- Beverley, Stephen;
- Cruz, Angela;
- Dobson, Deborah;
- Ivens, Alasdair;
- McDonagh, Paul;
- Madhubala, Rentala;
- Martinez-Calvillo, Santiago;
- Ruiz, Jeronimo;
- Saxena, Alka;
- Sisk, Ellen;
- Sunkin, Susan;
- Worthey, Elizabeth;
- Yan, Shaofeng;
- Stuart, Kenneth
Publication type:
Article
Risk-factors Associated With Poor Outcomes in VEO-IBD Secondary to XIAP Deficiency: A Case Report and Literature Review.
Published in:
2019
By:
- 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, Samir
Publication type:
journal article
A172: Metaphyseal Chondrodysplasia, Ectodermal Dysplasia, Short Stature, Hypergammaglobulinemia, and Spontaneous Inflammation Without Infections in an Extended Family Due to Mutation in NFKB1A.
Published in:
Arthritis & Rheumatology, 2014, v. 66, p. S224, doi. 10.1002/art.38598
By:
- Oberle, Edward J.;
- Verbsky, James W.;
- Routes, John;
- Hintermeyer, Mary;
- Worthey, Elizabeth;
- Dasu, Trivikram;
- Bengtson, Christine;
- Buzzell, Alyssa
Publication type:
Article
Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic.
Published in:
2012
By:
- Worthey, Elizabeth;
- Bick, David;
- Dimmock, David;
- Shimoyama, Mary;
- Veith, Regan;
- Kowalski, George;
- Taylor, Bradley;
- Wilk, Brandon;
- Tsaih, Sharon;
- Harris, Jeremy;
- Tschannen, Michael;
- Wendt-Andrae, Jaime;
- Brodie, Ken;
- Jacob, Howard
Publication type:
Abstract
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.
Published in:
Human Mutation, 2022, v. 43, n. 9, p. 1149, doi. 10.1002/humu.24398
By:
- Samani, Adrienne;
- English, Katherine G.;
- Lopez, Michael A.;
- Birch, Camille L.;
- Brown, Donna M.;
- Kaur, Gurpreet;
- Worthey, Elizabeth A.;
- Alexander, Matthew S.
Publication type:
Article
Crystal structures and proposed structural/functional classification of three protozoan proteins from the isochorismatase superfamily.
Published in:
Protein Science: A Publication of the Protein Society, 2005, v. 14, n. 11, p. 2887, doi. 10.1110/ps.051783005
By:
- Caruthers, Jonathan;
- Zucker, Frank;
- Worthey, Elizabeth;
- Myler, Peter J.;
- Buckner, Fred;
- Van Voorhuis, Wes;
- Mehlin, Chris;
- Boni, Erica;
- Feist, Tiffany;
- Luft, Joseph;
- Gulde, Stacey;
- Lauricella, Angela;
- Kaluzhniy, Oleksandr;
- Anderson, Lori;
- Le Trong, Isolde;
- Holmes, Margaret A.;
- Earnest, Thomas;
- Soltis, Michael;
- Hodgson, Keith O.;
- Hol, Wim G.J.
Publication type:
Article

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