Nicole L Washington
Nicole L Washington
Helix
Email verificata su helix.com
TitoloCitata daAnno
Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project
MB Gerstein, ZJ Lu, EL Van Nostrand, C Cheng, BI Arshinoff, T Liu, ...
Science 330 (6012), 1775-1787, 2010
8632010
Identification of functional elements and regulatory circuits by Drosophila modENCODE
S Roy, J Ernst, PV Kharchenko, P Kheradpour, N Negre, ML Eaton, ...
Science 330 (6012), 1787, 2010
8082010
Linking human diseases to animal models using ontology-based phenotype annotation
NL Washington, MA Haendel, CJ Mungall, M Ashburner, M Westerfield, ...
PLoS biology 7 (11), e1000247, 2009
2582009
The matchmaker exchange: a platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...
Human Mutation 36 (10), 915-921, 2015
2342015
Improved exome prioritization of disease genes through cross-species phenotype comparison
PN Robinson, S Köhler, A Oellrich, K Wang, CJ Mungall, SE Lewis, ...
Genome research 24 (2), 340-348, 2014
2222014
The human phenotype ontology: semantic unification of common and rare disease
T Groza, S Köhler, D Moldenhauer, N Vasilevsky, G Baynam, T Zemojtel, ...
The American Journal of Human Genetics 97 (1), 111-124, 2015
1322015
FER-1 regulates Ca2+-mediated membrane fusion during C. elegans spermatogenesis
NL Washington, S Ward
Journal of cell science 119 (12), 2552-2562, 2006
1322006
modMine: flexible access to modENCODE data
S Contrino, RN Smith, D Butano, A Carr, F Hu, R Lyne, K Rutherford, ...
Nucleic Acids Research, 2011
1252011
A whole-genome analysis framework for effective identification of pathogenic regulatory variants in Mendelian disease
D Smedley, M Schubach, JOB Jacobsen, S Köhler, T Zemojtel, ...
The American Journal of Human Genetics 99 (3), 595-606, 2016
1202016
Next-generation diagnostics and disease-gene discovery with the Exomiser
D Smedley, JOB Jacobsen, M Jäger, S Köhler, M Holtgrewe, M Schubach, ...
Nature protocols 10 (12), 2004, 2015
1192015
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
CJ Mungall, JA McMurry, S Köhler, JP Balhoff, C Borromeo, M Brush, ...
Nucleic acids research 45 (D1), D712-D722, 2016
1132016
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium
TF Meehan, N Conte, DB West, JO Jacobsen, J Mason, J Warren, ...
Nature genetics 49 (8), 1231, 2017
1032017
Deletions of chromosomal regulatory boundaries are associated with congenital disease
J Ibn-Salem, S Köhler, MI Love, HR Chung, N Huang, ME Hurles, ...
Genome Biology 15, 423, 2014
1012014
Patterns of molecular evolution in Caenorhabditis preclude ancient origins of selfing
AD Cutter, JD Wasmuth, NL Washington
Genetics 178 (4), 2093-2104, 2008
932008
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ...
F1000Research 2, 2013
782013
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
S Köhler, SC Doelken, BJ Ruef, S Bauer, N Washington, M Westerfield, ...
F1000Research 2, 2013
772013
The Resource Identification Initiative: A cultural shift in publishing
A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ...
Journal of Comparative Neurology 524 (1), 8-22, 2016
742016
The Resource Identification Initiative: A cultural shift in publishing
A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ...
Journal of Comparative Neurology 524 (1), 8-22, 2016
742016
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
OJ Buske, M Girdea, S Dumitriu, B Gallinger, T Hartley, H Trang, ...
Human Mutation 36 (10), 931-940, 2015
712015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
WP Bone, NL Washington, OJ Buske, DR Adams, J Davis, D Draper, ...
Genetics in Medicine 18 (6), 608, 2016
652016
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