Cooper, David N.

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

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

Evolutionary and biomedical insights from the rhesus macaque genome.

Gibbs, R. A., Rogers, J., Katze, M. G., Bumgarner, R., Weinstock, G. M., Mardis, E. R., Remington, K. A., Strausberg, R. L., Venter, J. C., Wilson, R. K., et al. (2007) · Science

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 1,403

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

The yak genome and adaptation to life at high altitude

Qiu, Q., Zhang, G., Ma, T., Qian, W., Wang, J., Ye, Z., Cao, C., Hu, Q., Kim, J., Larkin, D. M., et al. (2012) · Nature Genetics

High Altitude and HypoxiaGenetic and phenotypic traits in livestock

Cited by 983

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Pejaver, V., Urresti, J., Lugo-Martinez, J., Pagel, K. A., Lin, G. N., Nam, H.-J., Mort, M., Cooper, D. N., Sebat, J., Iakoucheva, L. M., et al. (2020) · Nature Communications

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 923

The Human Gene Mutation Database: 2008 update

Stenson, P. D., Mort, M., Ball, E. V., Howells, K., Phillips, A. D., Thomas, N. S., & Cooper, D. N. (2009) · Genome Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 873

Gene expression across mammalian organ development

Cardoso-Moreira, M., Halbert, J., Valloton, D., Velten, B., Chen, C., Shao, Y., Liechti, A., Ascenção, K., Rummel, C., Ovchinnikova, S., et al. (2019) · Nature

Developmental Biology and Gene RegulationGenomics and Phylogenetic Studies

Cited by 838

The human gene mutation database

Cooper, D. (1998) · Nucleic Acids Research

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 604

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Xue, Y., Prado-Martinez, J., Sudmant, P. H., Narasimhan, V., Ayub, Q., Szpak, M., Frandsen, P., Chen, Y., Yngvadottir, B., Cooper, D. N., et al. (2015) · Science

Genetic diversity and population structurePrimate Behavior and Ecology

Cited by 473

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

Grimm, D. G., Azencott, C., Aicheler, F., Gieraths, U., MacArthur, D. G., Samocha, K. E., Cooper, D. N., Stenson, P. D., Daly, M. J., Smoller, J. W., et al. (2015) · Human Mutation

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 356

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature

Birgmeier, J., Haeussler, M., Deisseroth, C. A., Steinberg, E. H., Jagadeesh, K. A., Ratner, A. J., Guturu, H., Wenger, A. M., Diekhans, M. E., Stenson, P. D., et al. (2020) · Science Translational Medicine

Genomics and Rare DiseasesBiomedical Text Mining and Ontologies

Cited by 118

Gain-of-glycosylation mutations

Vogt, G., Vogt, B., Chuzhanova, N., Julenius, K., Cooper, D. N., & Casanova, J.-L. (2007) · Current Opinion in Genetics & Development

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 67

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Johnston, J. J., Lewis, K. L., Ng, D., Singh, L. N., Wynter, J., Brewer, C., Brooks, B. P., Brownell, I., Candotti, F., Gonsalves, S. G., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 67

Mutational signatures and mutable motifs in cancer genomes

Rogozin, I. B., Pavlov, Y. I., Goncearenco, A., De, S., Lada, A. G., Poliakov, E., Panchenko, A. R., & Cooper, D. N. (2017) · Briefings in Bioinformatics

Cancer Genomics and DiagnosticsGenomics and Phylogenetic Studies

Cited by 58

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

Stein, D., Sevim Bayrak, Ç., Wu, Y., Kars, M. E., Stenson, P. D., Cooper, D. N., Schlessinger, A., & Itan, Y. (2022) · Genome Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 53

Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

Stein, D., Kars, M. E., Wu, Y., Bayrak, Ç. S., Stenson, P. D., Cooper, D. N., Schlessinger, A., & Itan, Y. (2023) · Genome Medicine

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 53

Guanine holes are prominent targets for mutation in cancer and inherited disease

Bacolla, A., Temiz, N. A., Yi, M., Ivanic, J., Cer, R. Z., Donohue, D. E., Ball, E. V., Mudunuri, U. S., Wang, G., Jain, A., et al. (2013) · PLoS Genetics

Cancer Genomics and DiagnosticsDNA Repair Mechanisms

Cited by 40

DNA polymerase η mutational signatures are found in a variety of different types of cancer

Rogozin, I. B., Goncearenco, A., Lada, A. G., De, S., Yurchenko, V., Nudelman, G., Panchenko, A. R., Cooper, D. N., & Pavlov, Y. I. (2018) · Cell Cycle

DNA Repair MechanismsCancer Genomics and Diagnostics

Cited by 39

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Higgins, J., Dalgleish, R., Dunnen, J. T., Barsh, G., Freeman, P. J., Cooper, D. N., Cullinan, S., Davies, K. E., Dorkins, H., Gong, L., et al. (2021) · Human Mutation

Academic Writing and PublishingGenomics and Rare Diseases

Cited by 13