Kingsbury, Zoya

A global reference for human genetic variation

The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 18,247

Accurate whole human genome sequencing using reversible terminator chemistry

Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 3,684

A comprehensive catalogue of somatic mutations from a human cancer genome

Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., et al. (2010) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,696

Non-invasive analysis of acquired resistance to cancer therapy by sequencing of plasma DNA

Murtaza, M., Dawson, S.-J., Tsui, D. W. Y., Gale, D., Forshew, T., Piskorz, A. M., Parkinson, C., Chin, S.-F., Kingsbury, Z., Wong, A. S. C., et al. (2013) · Nature

Cancer Genomics and DiagnosticsCancer Immunotherapy and Biomarkers

Cited by 1,624

Detection of long repeat expansions from PCR-free whole-genome sequence data

Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 388

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Chen, X., Sanchis-Juan, A., French, C. E., Connell, A. J., Delon, I., Kingsbury, Z., Chawla, A., Halpern, A. L., Taft, R. J., Bentley, D. R., et al. (2020) · Genetics in Medicine

Neurogenetic and Muscular Disorders ResearchGenomics and Rare Diseases

Cited by 137

Microbial Metabolism Shifts Towards an Adverse Profile with Supplementary Iron in the TIM-2 In vitro Model of the Human Colon

Kortman, G. A. M., Dutilh, B. E., Maathuis, A. J. H., Engelke, U. F., Boekhorst, J., Keegan, K. P., Nielsen, F. G. G., Betley, J., Weir, J. C., Kingsbury, Z., et al. (2016) · Frontiers in Microbiology

Gut microbiota and healthInfant Nutrition and Health

Cited by 73

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., et al. (2017) · neurogenetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 48