Year |
Citation |
Score |
2021 |
Read RW, Schlauch KA, Lombardi VC, Cirulli ET, Washington NL, Lu JT, Grzymski JJ. Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population. Frontiers in Genetics. 12: 639418. PMID 33763119 DOI: 10.3389/fgene.2021.639418 |
0.303 |
|
2020 |
Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, ... ... Washington N, et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nature Medicine. PMID 32719484 DOI: 10.1038/S41591-020-0982-5 |
0.355 |
|
2020 |
Cirulli ET, White S, Read RW, Elhanan G, Metcalf WJ, Tanudjaja F, Fath DM, Sandoval E, Isaksson M, Schlauch KA, Grzymski JJ, Lu JT, Washington NL. Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts. Nature Communications. 11: 542. PMID 31992710 DOI: 10.1038/S41467-020-14288-Y |
0.445 |
|
2019 |
Rashkin MD, Bowes J, Dunaway K, Dhaliwal J, Loomis E, Riffle S, Washington NL, Ziegler C, Lu J, Levin E. Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world. Journal of Genetic Counseling. 28: 456-465. PMID 30964579 DOI: 10.1002/Jgc4.1123 |
0.335 |
|
2017 |
McMurry JA, Juty N, Blomberg N, Burdett T, Conlin T, Conte N, Courtot M, Deck J, Dumontier M, Fellows DK, Gonzalez-Beltran A, Gormanns P, Grethe J, Hastings J, Hériché JK, ... ... Washington N, et al. Identifiers for the 21st century: How to design, provision, and reuse persistent identifiers to maximize utility and impact of life science data. Plos Biology. 15: e2001414. PMID 28662064 DOI: 10.1371/Journal.Pbio.2001414 |
0.362 |
|
2017 |
Meehan TF, Conte N, West DB, Jacobsen JO, Mason J, Warren J, Chen CK, Tudose I, Relac M, Matthews P, Karp N, Santos L, Fiegel T, Ring N, Westerberg H, ... ... Washington N, et al. Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nature Genetics. PMID 28650483 DOI: 10.1038/Ng.3901 |
0.474 |
|
2017 |
Gall T, Valkanas E, Bello C, Markello T, Adams C, Bone WP, Brandt AJ, Brazill JM, Carmichael L, Davids M, Davis J, Diaz-Perez Z, Draper D, Elson J, Flynn ED, ... ... Washington N, et al. Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. Frontiers in Medicine. 4: 62. PMID 28603714 DOI: 10.3389/Fmed.2017.00062 |
0.413 |
|
2016 |
Mungall CJ, McMurry JA, Köhler S, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, ... ... Washington N, et al. The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species. Nucleic Acids Research. PMID 27899636 DOI: 10.1093/Nar/Gkw1128 |
0.473 |
|
2016 |
Smedley D, Schubach M, Jacobsen JO, Köhler S, Zemojtel T, Spielmann M, Jäger M, Hochheiser H, Washington NL, McMurry JA, Haendel MA, Mungall CJ, Lewis SE, Groza T, Valentini G, et al. A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. American Journal of Human Genetics. PMID 27569544 DOI: 10.1016/J.Ajhg.2016.07.005 |
0.32 |
|
2016 |
McMurry JA, Köhler S, Washington NL, Balhoff JP, Borromeo C, Brush M, Carbon S, Conlin T, Dunn N, Engelstad M, Foster E, Gourdine JP, Jacobsen JO, Keith D, Laraway B, et al. Navigating the Phenotype Frontier: The Monarch Initiative. Genetics. 203: 1491-5. PMID 27516611 DOI: 10.1534/Genetics.116.188870 |
0.459 |
|
2016 |
Bandrowski A, Brush M, Grethe JS, Haendel MA, Kennedy DN, Hill S, Hof PR, Martone ME, Pols M, Tan SC, Washington N, Zudilova-Seinstra E, Vasilevsky N. The Resource Identification Initiative: a cultural shift in publishing. Brain and Behavior. 6: e00417. PMID 27110440 DOI: 10.1002/Brb3.417 |
0.378 |
|
2016 |
Bandrowski A, Brush M, Grethe JS, Haendel MA, Kennedy DN, Hill S, Hof PR, Martone ME, Pols M, Tan SC, Washington N, Zudilova-Seinstra E, Vasilevsky N. The Resource Identification Initiative: A cultural shift in publishing. The Journal of Comparative Neurology. 524: 8-22. PMID 26599696 DOI: 10.1002/Cne.23913 |
0.375 |
|
2016 |
Haendel M, Papatheodorou I, Oellrich A, Mungall CJ, Washington N, Lewis SE, Robinson PN, Smedley D. Tools for exploring mouse models of human disease Drug Discovery Today: Disease Models. 20: 21-26. DOI: 10.1016/J.Ddmod.2017.07.004 |
0.375 |
|
2015 |
Bandrowski A, Brush M, Grethe JS, Haendel MA, Kennedy DN, Hill S, Hof PR, Martone ME, Pols M, Tan S, Washington N, Zudilova-Seinstra E, Vasilevsky N. The Resource Identification Initiative: A cultural shift in publishing. F1000research. 4: 134. PMID 26594330 DOI: 10.12688/F1000Research.6555.2 |
0.38 |
|
2015 |
Bandrowski A, Brush M, Grethe JS, Haendel MA, Kennedy DN, Hill S, Hof PR, Martone ME, Pols M, Tan SS, Washington N, Zudilova-Seinstra E, Vasilevsky N. The Resource Identification Initiative: A Cultural Shift in Publishing. Neuroinformatics. PMID 26589523 DOI: 10.1007/S12021-015-9284-3 |
0.378 |
|
2015 |
Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, Bone WP, Haendel MA, Robinson PN. Next-generation diagnostics and disease-gene discovery with the Exomiser. Nature Protocols. 10: 2004-2015. PMID 26562621 DOI: 10.1038/Nprot.2015.124 |
0.439 |
|
2015 |
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, Groden C, Jacobsen J, Köhler S, Lee EM, Links AE, et al. Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26562225 DOI: 10.1038/Gim.2015.137 |
0.423 |
|
2015 |
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, ... ... Washington NL, et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation. 36: 915-21. PMID 26295439 DOI: 10.1002/Humu.22858 |
0.458 |
|
2015 |
Mungall CJ, Washington NL, Nguyen-Xuan J, Condit C, Smedley D, Köhler S, Groza T, Shefchek K, Hochheiser H, Robinson PN, Lewis SE, Haendel MA. Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery. Human Mutation. 36: 979-84. PMID 26269093 DOI: 10.1002/Humu.22857 |
0.461 |
|
2015 |
Buske OJ, Girdea M, Dumitriu S, Gallinger B, Hartley T, Trang H, Misyura A, Friedman T, Beaulieu C, Bone WP, Links AE, Washington NL, Haendel MA, Robinson PN, Boerkoel CF, et al. PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases. Human Mutation. PMID 26251998 DOI: 10.1002/Humu.22851 |
0.464 |
|
2015 |
Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe WA, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, et al. The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease. American Journal of Human Genetics. 97: 111-24. PMID 26119816 DOI: 10.1016/J.Ajhg.2015.05.020 |
0.443 |
|
2015 |
Haendel MA, Vasilevsky N, Brush M, Hochheiser HS, Jacobsen J, Oellrich A, Mungall CJ, Washington N, Köhler S, Lewis SE, Robinson PN, Smedley D. Disease insights through cross-species phenotype comparisons. Mammalian Genome : Official Journal of the International Mammalian Genome Society. PMID 26092691 DOI: 10.1007/S00335-015-9577-8 |
0.499 |
|
2015 |
Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe WA, Schofield PN, Beck T, Vasant D, Brookes AJ, Zankl A, Washington NL, Mungall CJ, et al. The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease American Journal of Human Genetics. DOI: 10.1016/j.ajhg.2015.05.020 |
0.36 |
|
2014 |
Ibn-Salem J, Köhler S, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, Ott CE, Bauer S, Schofield PN, Mundlos S, et al. Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology. 15: 423. PMID 25315429 DOI: 10.1186/S13059-014-0423-1 |
0.369 |
|
2014 |
Oellrich A, Koehler S, Washington N, Mungall C, Lewis S, Haendel M, Robinson PN, Smedley D. The influence of disease categories on gene candidate predictions from model organism phenotypes. Journal of Biomedical Semantics. 5: S4. PMID 25093073 DOI: 10.1186/2041-1480-5-S1-S4 |
0.467 |
|
2014 |
Robinson PN, Köhler S, Oellrich A, Wang K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilissen C, Haendel M, Smedley D. Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Research. 24: 340-8. PMID 24162188 DOI: 10.1101/Gr.160325.113 |
0.487 |
|
2014 |
Smedley D, Kohler S, Bone W, Oellrich A, Jacobsen J, Wang K, Mungall C, Washington N, Bauer S, Seelow D, Krawitz P, Boerkel C, Gilissen C, Haendel M, Lewis SE, et al. Use of animal models for exome prioritization of rare disease genes Orphanet Journal of Rare Diseases. 1-2. DOI: 10.1186/1750-1172-9-S1-O19 |
0.513 |
|
2013 |
Köhler S, Doelken SC, Ruef BJ, Bauer S, Washington N, Westerfield M, Gkoutos G, Schofield P, Smedley D, Lewis SE, Robinson PN, Mungall CJ. Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. F1000research. 2: 30. PMID 24358873 DOI: 10.12688/F1000Research.2-30.V2 |
0.434 |
|
2012 |
Contrino S, Smith RN, Butano D, Carr A, Hu F, Lyne R, Rutherford K, Kalderimis A, Sullivan J, Carbon S, Kephart ET, Lloyd P, Stinson EO, Washington NL, Perry MD, et al. modMine: flexible access to modENCODE data. Nucleic Acids Research. 40: D1082-8. PMID 22080565 DOI: 10.1093/Nar/Gkr921 |
0.382 |
|
2011 |
Washington NL, Stinson EO, Perry MD, Ruzanov P, Contrino S, Smith R, Zha Z, Lyne R, Carr A, Lloyd P, Kephart E, McKay SJ, Micklem G, Stein LD, Lewis SE. The modENCODE Data Coordination Center: lessons in harvesting comprehensive experimental details. Database : the Journal of Biological Databases and Curation. 2011: bar023. PMID 21856757 DOI: 10.1093/Database/Bar023 |
0.38 |
|
2010 |
Gerstein MB, Lu ZJ, Van Nostrand EL, Cheng C, Arshinoff BI, Liu T, Yip KY, Robilotto R, Rechtsteiner A, Ikegami K, Alves P, Chateigner A, Perry M, Morris M, Auerbach RK, ... ... Washington NL, et al. Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project. Science (New York, N.Y.). 330: 1775-87. PMID 21177976 DOI: 10.1126/Science.1196914 |
0.362 |
|
2010 |
Roy S, Ernst J, Kharchenko PV, Kheradpour P, Negre N, Eaton ML, Landolin JM, Bristow CA, Ma L, Lin MF, Washietl S, Arshinoff BI, Ay F, Meyer PE, ... ... Washington NL, et al. Identification of functional elements and regulatory circuits by Drosophila modENCODE. Science (New York, N.Y.). 330: 1787-97. PMID 21177974 DOI: 10.1126/Science.1198374 |
0.37 |
|
2009 |
Washington NL, Haendel MA, Mungall CJ, Ashburner M, Westerfield M, Lewis SE. Linking human diseases to animal models using ontology-based phenotype annotation. Plos Biology. 7: e1000247. PMID 19956802 DOI: 10.1371/Journal.Pbio.1000247 |
0.49 |
|
2008 |
Cutter AD, Wasmuth JD, Washington NL. Patterns of molecular evolution in Caenorhabditis preclude ancient origins of selfing. Genetics. 178: 2093-104. PMID 18430935 DOI: 10.1534/Genetics.107.085787 |
0.539 |
|
2006 |
Washington NL, Ward S. FER-1 regulates Ca2+ -mediated membrane fusion during C. elegans spermatogenesis. Journal of Cell Science. 119: 2552-62. PMID 16735442 DOI: 10.1242/Jcs.02980 |
0.406 |
|
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