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Nicole L Washington
Nicole L Washington
Helix
E-mail confirmado em helix.com
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Autoantibodies against type I IFNs in patients with life-threatening COVID-19
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), eabd4585, 2020
24052020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Q Zhang, P Bastard, Z Liu, J Le Pen, M Moncada-Velez, J Chen, M Ogishi, ...
Science 370 (6515), eabd4570, 2020
20942020
Genomewide association study of severe Covid-19 with respiratory failure
Severe Covid-19 GWAS Group
New England Journal of Medicine 383 (16), 1522-1534, 2020
18342020
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
10912010
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
10702010
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7002021
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
4822015
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
3622014
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, 2015
3422015
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
3122009
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, 2017
2972017
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
2702016
Emergence and rapid transmission of SARS-CoV-2 B. 1.1. 7 in the United States
NL Washington, K Gangavarapu, M Zeller, A Bolze, ET Cirulli, ...
Cell 184 (10), 2587-2594. e7, 2021
2652021
Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission
S Karthikeyan, JI Levy, P De Hoff, G Humphrey, A Birmingham, K Jepsen, ...
Nature 609 (7925), 101-108, 2022
2352022
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), 1231-1238, 2017
2242017
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
2232015
The Resource Identification Initiative: A cultural shift in publishing
A Bandrowski, M Brush, JS Grethe, MA Haendel, DN Kennedy, S Hill, ...
Neuroinformatics 14, 169-182, 2016
1762016
Long-term COVID-19 symptoms in a large unselected population
ET Cirulli, KM Schiabor Barrett, S Riffle, A Bolze, I Neveux, S Dabe, ...
medrxiv, 2020.10. 07.20208702, 2020
1712020
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
1672014
modMine: flexible access to modENCODE data
S Contrino, RN Smith, D Butano, A Carr, F Hu, R Lyne, K Rutherford, ...
Nucleic Acids Research, 2011
1632011
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