Stenson, Peter D.

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

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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

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

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

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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

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