Germ-Line Mutation

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Mitchell, J., Camacho, N., Shea, P., Stopsack, K. H., Joseph, V., Burren, O. S., Dhindsa, R. S., Nag, A., Berchuck, J. E., O’Neill, A., Abbasi, A., Zoghbi, A. W., Alegre-Díaz, J., Kuri-Morales, P., Berumen, J., Tapia-Conyer, R., Emberson, J., Torres, J. M., Collins, R., … Fabre, M. A. (2025). Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases. Nature Communications, 16(1). https://doi.org/10.1038/s41467-025-56944-1
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Stillman, M. D., Kusche, N., Toledano, S., Hilfrank, K. J., Yoon, C., Gabre, J. T., Rustgi, S. D., Hur, C., Kastrinos, F., Ryeom, S. W., & Yoon, S. S. (2022). Short and long‐term outcomes of prophylactic total gastrectomy in 54 consecutive individuals with germline pathogenic mutations in the CDH1 gene. Journal of Surgical Oncology, 126(8), 1413–1422. Portico. https://doi.org/10.1002/jso.27084
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Küry, S., Ebstein, F., Mollé, A., Besnard, T., Lee, M.-K., Vignard, V., Hery, T., Nizon, M., Mancini, G. M. S., Giltay, J. C., Cogné, B., McWalter, K., Deb, W., Mor-Shaked, H., Li, H., Schnur, R. E., Wentzensen, I. M., Denommé-Pichon, A.-S., Fourgeux, C., … Isidor, B. (2022). Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. The American Journal of Human Genetics, 109(2), 361–372. https://doi.org/10.1016/j.ajhg.2021.12.011
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Columbia Affiliation
Das, A., Sudhaman, S., Morgenstern, D., Coblentz, A., Chung, J., Stone, S. C., Alsafwani, N., Liu, Z. A., Karsaneh, O. A. A., Soleimani, S., Ladany, H., Chen, D., Zatzman, M., Cabric, V., Nobre, L., Bianchi, V., Edwards, M., Sambira Nahum, L. C., Ercan, A. B., … Tabori, U. (2022). Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency. Nature Medicine, 28(1), 125–135. https://doi.org/10.1038/s41591-021-01581-6
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Lu, H. Y., Sertori, R., Contreras, A. V., Hamer, M., Messing, M., Del Bel, K. L., Lopez-Rangel, E., Chan, E. S., Rehmus, W., Milner, J. D., McNagny, K. M., Lehman, A., Wiest, D. L., & Turvey, S. E. (2021). A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation. Frontiers in Immunology, 12. https://doi.org/10.3389/fimmu.2021.788278
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