Washington, Nicole

Next-generation diagnostics and disease-gene discovery with the Exomiser

Smedley, D., Jacobsen, J. O. B., Jäger, M., Köhler, S., Holtgrewe, M., Schubach, M., Siragusa, E., Zemojtel, T., Buske, O. J., Washington, N. L., et al. (2015) · Nature Protocols

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 445

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

Mungall, C. J., McMurry, J. A., Köhler, S., Balhoff, J. P., Borromeo, C., Brush, M., Carbon, S., Conlin, T., Dunn, N., Engelstad, M., et al. (2017) · Nucleic Acids Research

Biomedical Text Mining and OntologiesBioinformatics and Genomic Networks

Cited by 441

Improved exome prioritization of disease genes through cross-species phenotype comparison

Robinson, P. N., Köhler, S., Oellrich, A., Sanger Mouse Genetics Project, Wang, K., Mungall, C. J., Lewis, S. E., Washington, N., Bauer, S., Seelow, D., et al. (2014) · Genome Research

Genomics and Rare DiseasesBioinformatics and Genomic Networks

Cited by 375

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

Smedley, D., Schubach, M., Jacobsen, J. O. B., Köhler, S., Zemojtel, T., Spielmann, M., Jäger, M., Hochheiser, H., Washington, N. L., McMurry, J. A., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 283

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Ibn-Salem, J., Köhler, S., Love, M. I., Chung, H.-R., Huang, N., Hurles, M. E., Haendel, M., Washington, N. L., Smedley, D., Mungall, C. J., et al. (2014) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Chromatin Dynamics

Cited by 143

SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads

Bolze, A., Cirulli, E. T., Luo, S., White, S., Wyman, D., Dei Rossi, A., Machado, H., Cassens, T., Jacobs, S., Schiabor Barrett, K. M., et al. (2021) · Cell Reports Medicine

SARS-CoV-2 and COVID-19 ResearchCOVID-19 epidemiological studies

Cited by 116

The Resource Identification Initiative: A cultural shift in publishing

Bandrowski, A., Brush, M., Grethe, J. S., Haendel, M. A., Kennedy, D. N., Hill, S., Hof, P. R., Martone, M. E., Pols, M., Tan, S., et al. (2015) · F1000Research

Research Data Management PracticesAcademic Publishing and Open Access

Cited by 80

The resource identification initiative: a cultural shift in publishing

Bandrowski, A., Brush, M., Grethe, J. S., Haendel, M. A., Kennedy, D. N., Hill, S., Hof, P. R., Martone, M. E., Pols, M., Tan, S., et al. (2015) · F1000Research

Research Data Management PracticesAcademic Publishing and Open Access

Cited by 50

The Resource Identification Initiative: a cultural shift in publishing

Bandrowski, A., Brush, M., Grethe, J. S., Haendel, M. A., Kennedy, D. N., Hill, S., Hof, P. R., Martone, M. E., Pols, M., Tan, S. C., et al. (2016) · Journal of Comparative Neurology

Research Data Management PracticesAcademic Publishing and Open Access

Cited by 41

Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes

Schiabor Barrett, K. M., Telis, N., McEwen, L. M., Burrows, E. K., Khuder, B., Judge, D. P., Pawloski, P. A., Grzymski, J. J., Washington, N. L., Bolze, A., et al. (2024) · Communications Medicine

Genomics and Rare DiseasesDiabetes and associated disorders

Cited by 8