Vialle, R. A., de Paiva Lopes, K., Li, Y., Ng, B., Schneider, J. A., Buchman, A. S., Wang, Y., Farfel, J. M., Barnes, L. L., Wingo, A. P., Wingo, T. S., Seyfried, N. T., De Jager, P. L., Gaiteri, C., Tasaki, S., & Bennett, D. A. (2025). Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits. Genome Medicine, 17(1). https://doi.org/10.1186/s13073-025-01444-6

Aparicio, L., Crowley, L., Christin, J. R., Laplaca, C. J., Hibshoosh, H., Rabadan, R., & Shen, M. M. (2025). Meta-analyses of mouse and human prostate single-cell transcriptomes reveal widespread epithelial plasticity in tissue regression, regeneration, and cancer. Genome Medicine, 17(1). https://doi.org/10.1186/s13073-025-01432-w

Katrinli, S., Wani, A. H., Maihofer, A. X., Ratanatharathorn, A., Daskalakis, N. P., Montalvo-Ortiz, J., Núñez-Ríos, D. L., Zannas, A. S., Zhao, X., Aiello, A. E., Ashley-Koch, A. E., Avetyan, D., Baker, D. G., Beckham, J. C., Boks, M. P., Brick, L. A., Bromet, E., Champagne, F. A., Chen, C.-Y., … Logue, M. W. (2024). Epigenome-wide association studies identify novel DNA methylation sites associated with PTSD: a meta-analysis of 23 military and civilian cohorts. Genome Medicine, 16(1). https://doi.org/10.1186/s13073-024-01417-1

Daly, A. F., Dunnington, L. A., Rodriguez-Buritica, D. F., Spiegel, E., Brancati, F., Mantovani, G., Rawal, V. M., Faucz, F. R., Hijazi, H., Caberg, J.-H., Nardone, A. M., Bengala, M., Fortugno, P., Del Sindaco, G., Ragonese, M., Gould, H., Cannavò, S., Pétrossians, P., Lania, A., … Franke, M. (2024). Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome Medicine, 16(1). https://doi.org/10.1186/s13073-024-01378-5

Zhu, Y., Pei, X., Novaj, A., Setton, J., Bronder, D., Derakhshan, F., Selenica, P., McDermott, N., Orman, M., Plum, S., Subramanyan, S., Braverman, S. H., McMillan, B., Sinha, S., Ma, J., Gazzo, A., Khan, A., Bakhoum, S., Powell, S. N., … Riaz, N. (2024). Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors. Genome Medicine, 16(1). https://doi.org/10.1186/s13073-024-01371-y

Nimmo, C., Ortiz, A. T., Tan, C. C. S., Pang, J., Acman, M., Millard, J., Padayatchi, N., Grant, A. D., O’Donnell, M., Pym, A., Brynildsrud, O. B., Eldholm, V., Grandjean, L., Didelot, X., Balloux, F., & van Dorp, L. (2024). Detection of a historic reservoir of bedaquiline/clofazimine resistance-associated variants in Mycobacterium tuberculosis. Genome Medicine, 16(1). https://doi.org/10.1186/s13073-024-01289-5

Mueller, S. H., Lai, A. G., Valkovskaya, M., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Lush, M., Abu-Ful, Z., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Augustinsson, A., Baert, T., Freeman, L. E. B., … Beckmann, M. W. (2023). Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome Medicine, 15(1). https://doi.org/10.1186/s13073-022-01152-5

Filip, I., Wang, A., Kravets, O., Orenbuch, R., Zhao, J., Perea-Chamblee, T. E., Manji, G. A., López de Maturana, E., Malats, N., Olive, K. P., & Rabadan, R. (2023). Pervasiveness of HLA allele-specific expression loss across tumor types. Genome Medicine, 15(1). https://doi.org/10.1186/s13073-023-01154-x

Washington, C., Dapas, M., Biddanda, A., Magnaye, K. M., Aneas, I., Helling, B. A., Szczesny, B., Boorgula, M. P., Taub, M. A., Kenny, E., Mathias, R. A., Barnes, K. C., Campbell, M., Figueiredo, C., Hansel, N. N., Ober, C., Olopade, C. O., Rotimi, C. N., … Ober, C. (2022). African-specific alleles modify risk for asthma at the 17q12-q21 locus in African Americans. Genome Medicine, 14(1). https://doi.org/10.1186/s13073-022-01114-x

Ge, T., Irvin, M. R., Patki, A., Srinivasasainagendra, V., Lin, Y.-F., Tiwari, H. K., Armstrong, N. D., Benoit, B., Chen, C.-Y., Choi, K. W., Cimino, J. J., Davis, B. H., Dikilitas, O., Etheridge, B., Feng, Y.-C. A., Gainer, V., Huang, H., Jarvik, G. P., Kachulis, C., … Karlson, E. W. (2022). Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations. Genome Medicine, 14(1). https://doi.org/10.1186/s13073-022-01074-2

Luquez, T., Gaur, P., Kosater, I. M., Lam, M., Lee, D. I., Mares, J., Paryani, F., Yadav, A., & Menon, V. (2022). Cell type-specific changes identified by single-cell transcriptomics in Alzheimer’s disease. Genome Medicine, 14(1). https://doi.org/10.1186/s13073-022-01136-5

López de Maturana, E., Rodríguez, J. A., Alonso, L., Lao, O., Molina-Montes, E., Martín-Antoniano, I. A., Gómez-Rubio, P., Lawlor, R., Carrato, A., Hidalgo, M., Iglesias, M., Molero, X., Löhr, M., Michalski, C., Perea, J., O’Rorke, M., Barberà, V. M., … Malats, N. (2021). A multilayered post-GWAS assessment on genetic susceptibility to pancreatic cancer. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-020-00816-4

Zhao, W., Dovas, A., Spinazzi, E. F., Levitin, H. M., Banu, M. A., Upadhyayula, P., Sudhakar, T., Marie, T., Otten, M. L., Sisti, M. B., Bruce, J. N., Canoll, P., & Sims, P. A. (2021). Deconvolution of cell type-specific drug responses in human tumor tissue with single-cell RNA-seq. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-021-00894-y

Breeze, C. E., Batorsky, A., Lee, M. K., Szeto, M. D., Xu, X., McCartney, D. L., Jiang, R., Patki, A., Kramer, H. J., Eales, J. M., Raffield, L., Lange, L., Lange, E., Durda, P., Liu, Y., Tracy, R. P., Van Den Berg, D., Evans, K. L., … Franceschini, N. (2021). Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-021-00877-z

Miron, M., Meng, W., Rosenfeld, A. M., Dvorkin, S., Poon, M. M. L., Lam, N., Kumar, B. V., Louzoun, Y., Luning Prak, E. T., & Farber, D. L. (2021). Maintenance of the human memory T cell repertoire by subset and tissue site. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-021-00918-7

Wang, Z., Fan, X., Shen, Y., Pagadala, M. S., Signer, R., Cygan, K. J., Fairbrother, W. G., Carter, H., Chung, W. K., & Huang, K. (2021). Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-021-00964-1

Zhu, N., Swietlik, E. M., Welch, C. L., Pauciulo, M. W., Hagen, J. J., Zhou, X., Guo, Y., Karten, J., Pandya, D., Tilly, T., Lutz, K. A., Martin, J. M., Treacy, C. M., Rosenzweig, E. B., Krishnan, U., Coleman, A. W., Gonzaga-Jauregui, C., Lawrie, A., Trembath, R. C., … Chung, W. K. (2021). Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-021-00891-1

Chen, A. X., Gartrell, R. D., Zhao, J., Upadhyayula, P. S., Zhao, W., Yuan, J., Minns, H. E., Dovas, A., Bruce, J. N., Lasorella, A., Iavarone, A., Canoll, P., Sims, P. A., & Rabadan, R. (2021). Single-cell characterization of macrophages in glioblastoma reveals MARCO as a mesenchymal pro-tumor marker. Genome Medicine, 13(1). https://doi.org/10.1186/s13073-021-00906-x