Mutation

Displaying 1 - 35 of 35CSV
Godbout, K., Dugas, M., Reiken, S. R., Ramezani, S., Falle, A., Rousseau, J., Wronska, A. E., Lamothe, G., Canet, G., Lu, Y., Planel, E., Marks, A. R., & Tremblay, J. P. (2025). Universal Prime Editing Therapeutic Strategy for RyR1-Related Myopathies: A Protective Mutation Rescues Leaky RyR1 Channel. International Journal of Molecular Sciences, 26(7), 2835. https://doi.org/10.3390/ijms26072835
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da Costa, B. L., Pincay, J., Brodie, S. E., Tsang, S. H., & Quinn, P. M. J. (2025). Prime Editing Strategy to Install the Mfrp Retinal Degeneration 6 Mutation. Retinal Degenerative Diseases XX, 113–118. https://doi.org/10.1007/978-3-031-76550-6_19
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Dillon, M. N., Dickey, A. N., Roberts, R. B., Betz, J. A., Mousseau, T. A., Kleiman, N. J., & Breen, M. (2024). Is increased mutation driving genetic diversity in dogs within the Chornobyl exclusion zone? PLOS ONE, 19(12), e0315244. https://doi.org/10.1371/journal.pone.0315244
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Dimitriou, F., Orloff, M. M., Koch Hein, E. C., Cheng, P. F., Hughes, I. F., Simeone, E., Montazeri, K., Grover, P., Mehmi, I., Gerard, C. L., Gaudy-Marqueste, C., Grob, J.-J., Michielin, O., Hamid, O., Long, G. V., Sullivan, R., Kapiteijn, E., Johnson, D. B., Ascierto, P. A., … Dummer, R. (2025). Treatment sequence with tebentafusp and immune checkpoint inhibitors in patients with metastatic uveal melanoma and metastatic GNA11/GNAQ mutant melanocytic tumors. European Journal of Cancer, 214, 115161. https://doi.org/10.1016/j.ejca.2024.115161
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Gui, G., Ravindra, N., Hegde, P. S., Andrew, G., Mukherjee, D., Wong, Z., Auletta, J. J., El Chaer, F., Chen, E. C., Chen, Y.-B., Corner, A., Devine, S. M., Iyer, S. G., Jimenez Jimenez, A. M., De Lima, M. J. G., Litzow, M. R., Kebriaei, P., Saber, W., Spellman, S. R., … Hourigan, C. S. (2024). Measurable residual mutated IDH1 before allogeneic transplant for acute myeloid leukemia. Bone Marrow Transplantation. https://doi.org/10.1038/s41409-024-02447-4
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Wang, Q., Mellis, I. A., Ho, J., Bowen, A., Kowalski-Dobson, T., Valdez, R., Katsamba, P. S., Wu, M., Lee, C., Shapiro, L., Gordon, A., Guo, Y., Ho, D. D., & Liu, L. (2024). Recurrent SARS-CoV-2 spike mutations confer growth advantages to select JN.1 sublineages. Emerging Microbes & Infections, 13(1). https://doi.org/10.1080/22221751.2024.2402880
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Jhaveri, K. L., Accordino, M. K., Bedard, P. L., Cervantes, A., Gambardella, V., Hamilton, E., Italiano, A., Kalinsky, K., Krop, I. E., Oliveira, M., Schmid, P., Saura, C., Turner, N. C., Varga, A., Cheeti, S., Hilz, S., Hutchinson, K. E., Jin, Y., Royer-Joo, S., … Juric, D. (2024). Phase I/Ib Trial of Inavolisib Plus Palbociclib and Endocrine Therapy for PIK3CA-Mutated, Hormone Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative Advanced or Metastatic Breast Cancer. Journal of Clinical Oncology, 42(33), 3947–3956. https://doi.org/10.1200/jco.24.00110
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Tomasello, D. L., Barrasa, M. I., Mankus, D., Alarcon, K. I., Lytton-Jean, A. K. R., Liu, X. S., & Jaenisch, R. (2024). Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons. Scientific Reports, 14(1). https://doi.org/10.1038/s41598-024-71040-y
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Furtado, L. V., Bifulco, C., Dolderer, D., Hsiao, S. J., Kipp, B. R., Lindeman, N. I., Ritterhouse, L. L., Temple-Smolkin, R. L., Zehir, A., & Nowak, J. A. (2024). Recommendations for Tumor Mutational Burden Assay Validation and Reporting. The Journal of Molecular Diagnostics, 26(8), 653–668. https://doi.org/10.1016/j.jmoldx.2024.05.002
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Perrier, S., Macintosh, J., Misiaszek, A. D., Lambert, G., Guerrero, K., Tran, L. T., Müller, C. W., Pastinen, T., Maegawa, G. H. B., Thiffault, I., & Bernard, G. (2024). Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy. Human Mutation, 2024(1). Portico. https://doi.org/10.1155/2024/8807171
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van Tartwijk, F. W., Wunderlich, L. C. S., Mela, I., Makarchuk, S., Jakobs, M. A. H., Qamar, S., Franze, K., Kaminski Schierle, G. S., St George-Hyslop, P. H., Lin, J. Q., Holt, C. E., & Kaminski, C. F. (2024). Mutation of the ALS-/FTD-Associated RNA-Binding Protein FUS Affects Axonal Development. The Journal of Neuroscience, 44(27), e2148232024. https://doi.org/10.1523/jneurosci.2148-23.2024
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Xu, C., Bao, S., Wang, Y., Li, W., Chen, H., Shen, Y., Jiang, T., & Zhang, C. (2024). Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences. Genome Research, 34(7), 1052–1065. https://doi.org/10.1101/gr.279044.124
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Xu, Z. M., Gnouamozi, G. E., Rüeger, S., Shea, P. R., Buti, M., Chan, H. LY., Marcellin, P., Lawless, D., Naret, O., Zeller, M., Schneuing, A., Scheck, A., Junier, T., Moradpour, D., Podlaha, O., Suri, V., Gaggar, A., Subramanian, M., Correia, B., … Fellay, J. (2024). Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation. The American Journal of Human Genetics, 111(6), 1018–1034. https://doi.org/10.1016/j.ajhg.2024.04.013
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Columbia Affiliation
Arrillaga-Romany, I., Lassman, A., McGovern, S. L., Mueller, S., Nabors, B., van den Bent, M., Vogelbaum, M. A., Allen, J. E., Melemed, A. S., Tarapore, R. S., Wen, P. Y., & Cloughesy, T. (2024). ACTION: a randomized phase 3 study of ONC201 (dordaviprone) in patients with newly diagnosed H3 K27M-mutant diffuse glioma. Neuro-Oncology, 26(Supplement_2), S173–S181. https://doi.org/10.1093/neuonc/noae031
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Riabov, V., Xu, Q., Schmitt, N., Streuer, A., Ge, G., Bolanos, L., Wunderlich, M., Jann, J.-C., Wein, A., Altrock, E., Demmerle, M., Mukherjee, S., Ali, A. M., Rapp, F., Nowak, V., Weimer, N., Obländer, J., Palme, I., Göl, M., … Nowak, D. (2023). <i>ASXL1</i> mutations are associated with a response to alvocidib and 5-azacytidine combination in myelodysplastic neoplasms. Haematologica, 0–0. https://doi.org/10.3324/haematol.2023.282921
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Arrillaga-Romany, I., Gardner, S. L., Odia, Y., Aguilera, D., Allen, J. E., Batchelor, T., Butowski, N., Chen, C., Cloughesy, T., Cluster, A., de Groot, J., Dixit, K. S., Graber, J. J., Haggiagi, A. M., Harrison, R. A., Kheradpour, A., Kilburn, L. B., Kurz, S. C., Lu, G., … Wen, P. Y. (2024). ONC201 (Dordaviprone) in Recurrent H3 K27M–Mutant Diffuse Midline Glioma. Journal of Clinical Oncology, 42(13), 1542–1552. https://doi.org/10.1200/jco.23.01134
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McClellan, J. M., Zoghbi, A. W., Buxbaum, J. D., Cappi, C., Crowley, J. J., Flint, J., Grice, D. E., Gulsuner, S., Iyegbe, C., Jain, S., Kuo, P.-H., Lattig, M. C., Passos-Bueno, M. R., Purushottam, M., Stein, D. J., Sunshine, A. B., Susser, E. S., Walsh, C. A., Wootton, O., & King, M.-C. (2024). An evolutionary perspective on complex neuropsychiatric disease. Neuron, 112(1), 7–24. https://doi.org/10.1016/j.neuron.2023.10.037
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Wang, Q., Guo, Y., Iketani, S., Nair, M. S., Li, Z., Mohri, H., Wang, M., Yu, J., Bowen, A. D., Chang, J. Y., Shah, J. G., Nguyen, N., Chen, Z., Meyers, K., Yin, M. T., Sobieszczyk, M. E., Sheng, Z., Huang, Y., Liu, L., & Ho, D. D. (2022). Antibody evasion by SARS-CoV-2 Omicron subvariants BA.2.12.1, BA.4 and BA.5. Nature, 608(7923), 603–608. https://doi.org/10.1038/s41586-022-05053-w
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Kreienkamp, H.-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J.-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M., & Lessel, D. (2021). Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Human Genetics, 141(2), 257–272. https://doi.org/10.1007/s00439-021-02412-x
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Nagy, D., Verheyen, S., Wigby, K. M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F. A., Chung, W. K., Schieving, J. H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M., … Weis, D. (2022). Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring. Genes, 13(1), 154. https://doi.org/10.3390/genes13010154
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Lieu, Y. K., Liu, Z., Ali, A. M., Wei, X., Penson, A., Zhang, J., An, X., Rabadan, R., Raza, A., Manley, J. L., & Mukherjee, S. (2021). SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes. Proceedings of the National Academy of Sciences, 119(1). https://doi.org/10.1073/pnas.2111703119
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Farooqi, N., Metherell, L. A., Schrauwen, I., Acharya, A., Khan, Q., Nouel Saied, L. M., Ali, Y., El-Serehy, H. A., Jalil, F., & Leal, S. M. (2021). Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. Genes, 12(12), 1915. https://doi.org/10.3390/genes12121915
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Yap, Z. Y., Efthymiou, S., Seiffert, S., Vargas Parra, K., Lee, S., Nasca, A., Maroofian, R., Schrauwen, I., Pendziwiat, M., Jung, S., Bhoj, E., Striano, P., Mankad, K., Vona, B., Cuddapah, S., Wagner, A., Alvi, J. R., Davoudi-Dehaghani, E., Fallah, M.-S., … Yoon, W. H. (2021). Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. The American Journal of Human Genetics, 108(12), 2368–2384. https://doi.org/10.1016/j.ajhg.2021.11.003
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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
Barbuti, P. A., Ohnmacht, J., Santos, B. F. R., Antony, P. M., Massart, F., Cruciani, G., Dording, C. M., Pavelka, L., Casadei, N., Kwon, Y.-J., & Krüger, R. (2021). Gene-corrected p.A30P SNCA patient-derived isogenic neurons rescue neuronal branching and function. Scientific Reports, 11(1). https://doi.org/10.1038/s41598-021-01505-x
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Manna, P. T., Chiang, S. C. C., Bryceson, Y. T., Orange, J. S., & Ammann, S. (2021). Editorial: Membrane Trafficking in Immunology - How Membrane Transport and Exocytosis Defects Underlie Immunodeficiencies. Frontiers in Immunology, 12. https://doi.org/10.3389/fimmu.2021.769815
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Chai, G., Szenker-Ravi, E., Chung, C., Li, Z., Wang, L., Khatoo, M., Marshall, T., Jiang, N., Yang, X., McEvoy-Venneri, J., Stanley, V., Anzenberg, P., Lang, N., Wazny, V., Yu, J., Virshup, D. M., Nygaard, R., Mancia, F., Merdzanic, R., … Gleeson, J. G. (2021). A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. New England Journal of Medicine, 385(14), 1292–1301. https://doi.org/10.1056/nejmoa2033911
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Wang, N.-K., Liu, P.-K., Kong, Y., Levi, S. R., Huang, W.-C., Hsu, C.-W., Wang, H.-H., Chen, N., Tseng, Y.-J., Quinn, P. M. J., Tai, M.-H., Lin, C.-S., & Tsang, S. H. (2021). Mouse Models of Achromatopsia in Addressing Temporal “Point of No Return” in Gene-Therapy. International Journal of Molecular Sciences, 22(15), 8069. https://doi.org/10.3390/ijms22158069
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