Alleles

Displaying 1 - 6 of 6CSV
Stewart, O., Gruber, C., Randolph, H. E., Patel, R., Ramba, M., Calzoni, E., Huang, L. H., Levy, J., Buta, S., Lee, A., Sazeides, C., Prue, Z., Hoytema van Konijnenburg, D. P., Chinn, I. K., Pedroza, L. A., Lupski, J. R., Schmitt, E. G., Cooper, M. A., Puel, A., … Bogunovic, D. (2025). Monoallelic expression can govern penetrance of inborn errors of immunity. Nature, 637(8048), 1186–1197. https://doi.org/10.1038/s41586-024-08346-4
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Nakanishi, T., Pigazzini, S., Degenhardt, F., Cordioli, M., Butler-Laporte, G., Maya-Miles, D., Bujanda, L., Bouysran, Y., Niemi, M. E. K., Palom, A., Ellinghaus, D., Khan, A., Martínez-Bueno, M., Rolker, S., Amitrano, S., Roade Tato, L., Fava, F., Spinner, C. D., Prati, D., … Ganna, A. (2021). Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality. Journal of Clinical Investigation, 131(23). https://doi.org/10.1172/jci152386
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Tomioka, K., Miyamoto, T., Akutsu, S. N., Yanagihara, H., Fujita, K., Royba, E., Tauchi, H., Yamamoto, T., Koh, I., Hirata, E., Kudo, Y., Kobayashi, M., Okada, S., & Matsuura, S. (2021). NBS1 I171V variant underlies individual differences in chromosomal radiosensitivity within human populations. Scientific Reports, 11(1). https://doi.org/10.1038/s41598-021-98673-7
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Columbia Affiliation
Aronson, B. E., Scourzic, L., Shah, V., Swanzey, E., Kloetgen, A., Polyzos, A., Sinha, A., Azziz, A., Caspi, I., Li, J., Pelham-Webb, B., Glenn, R. A., Vierbuchen, T., Wichterle, H., Tsirigos, A., Dawlaty, M. M., Stadtfeld, M., & Apostolou, E. (2021). A bipartite element with allele-specific functions safeguards DNA methylation imprints at the Dlk1-Dio3 locus. Developmental Cell, 56(22), 3052-3065.e5. https://doi.org/10.1016/j.devcel.2021.10.004
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