Birney, Ewan

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

The European nucleotide archive

Leinonen, R., Akhtar, R., Birney, E., Bower, L., Cerdeno-Tarraga, A., Cheng, Y., Cleland, I., Faruque, N., Goodgame, N., Gibson, R., et al. (2011) · Nucleic Acids Research

Genomics and Phylogenetic StudiesResearch Data Management Practices

Cited by 690

Common genetic variation drives molecular heterogeneity in human iPSCs

Kilpinen, H., Goncalves, A., Leha, A., Afzal, V., Alasoo, K., Ashford, S., Bala, S., Bensaddek, D., Casale, F. P., Culley, O. J., et al. (2017) · Nature

Pluripotent Stem Cells ResearchGenetic Associations and Epidemiology

Cited by 586

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Morales, J., Pujar, S., Loveland, J. E., Astashyn, A., Bennett, R., Berry, A., Cox, E., Davidson, C., Ermolaeva, O., Farrell, C. M., et al. (2022) · Nature

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 571

Comparative Genome and Proteome Analysis of Anopheles gambiae and Drosophila melanogaster

Zdobnov, E. M., von Mering, C., Letunic, I., Torrents, D., Suyama, M., Copley, R. R., Christophides, G. K., Thomasova, D., Holt, R. A., Subramanian, G. M., et al. (2002) · Science

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

Cited by 553

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 451

Genome-wide meta-analysis identifies new susceptibility loci for migraine

North American Brain Expression Consortium, Anttila, V., UK Brain Expression Consortium, the International Headache Genetics Consortium, Winsvold, B. S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., Kallela, M., et al. (2013) · Nature Genetics

Migraine and Headache StudiesGenetic Associations and Epidemiology

Cited by 410

Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Cuomo, A. S. E., Seaton, D. D., McCarthy, D. J., Martinez, I., Bonder, M. J., Garcia-Bernardo, J., Amatya, S., Madrigal, P., Isaacson, A., Buettner, F., et al. (2020) · Nature Communications

Pluripotent Stem Cells ResearchSingle-cell and spatial transcriptomics

Cited by 331

Heritable Individual-Specific and Allele-Specific Chromatin Signatures in Humans

McDaniell, R., Lee, B.-K., Song, L., Liu, Z., Boyle, A. P., Erdos, M. R., Scott, L. J., Morken, M. A., Kucera, K. S., Battenhouse, A., et al. (2010) · Science

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 308

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 283

A Transcription Factor Collective Defines Cardiac Cell Fate and Reflects Lineage History

Junion, G., Spivakov, M., Girardot, C., Braun, M., Gustafson, E. H., Birney, E., & Furlong, E. E. M. (2012) · Cell

Developmental Biology and Gene RegulationGenomics and Chromatin Dynamics

Cited by 257

MinION Analysis and Reference Consortium: Phase 2 data release and analysis of R9.0 chemistry

Jain, M., Tyson, J. R., Loose, M., Ip, C. L. C., Eccles, D. A., O'Grady, J., Malla, S., Leggett, R. M., Wallerman, O., Jansen, H. J., et al. (2017) · F1000Research

Genomics and Phylogenetic StudiesNanopore and Nanochannel Transport Studies

Cited by 140

Learning the natural history of human disease with generative transformers

Shmatko, A., Jung, A. W., Gaurav, K., Brunak, S., Mortensen, L. H., Birney, E., Fitzgerald, T., & Gerstung, M. (2025) · Nature

Machine Learning in HealthcareArtificial Intelligence in Healthcare and Education

Cited by 110

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Integrating biological data – the Distributed Annotation System

Jenkinson, A. M., Albrecht, M., Birney, E., Blankenburg, H., Down, T., Finn, R. D., Hermjakob, H., Hubbard, T. J., Jimenez, R. C., Jones, P., et al. (2008) · BMC Bioinformatics

Genomics and Phylogenetic StudiesScientific Computing and Data Management

Cited by 100

Analysis of variation at transcription factor binding sites in Drosophila and humans

Spivakov, M., Akhtar, J., Kheradpour, P., Beal, K., Girardot, C., Koscielny, G., Herrero, J., Kellis, M., Furlong, E. E., & Birney, E. (2012) · Genome Biology

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 94

A somatic-mutational process recurrently duplicates germline susceptibility loci and tissue-specific super-enhancers in breast cancers

Glodzik, D., Morganella, S., Davies, H., Simpson, P. T., Li, Y., Zou, X., Diez-Perez, J., Staaf, J., Alexandrov, L. B., Smid, M., et al. (2017) · Nature Genetics

Cancer Genomics and DiagnosticsBRCA gene mutations in cancer

Cited by 84

Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors

Vigilante, A., Laddach, A., Moens, N., Meleckyte, R., Leha, A., Ghahramani, A., Culley, O. J., Kathuria, A., Hurling, C., Vickers, A., et al. (2019) · Cell Reports

Pluripotent Stem Cells ResearchSingle-cell and spatial transcriptomics

Cited by 34

Nanoscale 3D DNA tracing in non-denatured cells resolves the Cohesin-dependent loop architecture of the genome in situ

Beckwith, K. S., Ødegård-Fougner, Ø., Morero, N. R., Barton, C., Schueder, F., Tang, W., Alexander, S., Peters, J. M., Jungmann, R., Birney, E., et al. (2025) · Nature Communications

Genomics and Chromatin DynamicsNuclear Structure and Function

Cited by 13