Mutation, Missense

Displaying 1 - 6 of 6CSV
Gunasekaran, T. I., Reyes‐Dumeyer, D., Faber, K. M., Goate, A., Boeve, B., Cruchaga, C., Pericak‐Vance, M., Haines, J. L., Rosenberg, R., Tsuang, D., Mejia, D. R., Medrano, M., Lantigua, R. A., Sweet, R. A., Bennett, D. A., Wilson, R. S., Alba, C., Dalgard, C., Foroud, T., … Mayeux, R. (2024). Missense and loss‐of‐function variants at GWAS loci in familial Alzheimer’s disease. Alzheimer’s & Dementia, 20(11), 7580–7594. Portico. https://doi.org/10.1002/alz.14221
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Sudnawa, K. K., Li, W., Calamia, S., Kanner, C. H., Bain, J. M., Abdelhakim, A. H., Geltzeiler, A., Mebane, C. M., Provenzano, F. A., Sands, T. T., Fee, R. J., Montes, J., Shen, Y., & Chung, W. K. (2024). Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder. Genetics in Medicine, 26(8), 101169. https://doi.org/10.1016/j.gim.2024.101169
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Jiang, N., Xu, W., Abdelhakim, A., Matveyenko, A., Szabolcs, M., Copeland, W. C., Disco, M., Iglesias, A., Lee, T. M., Naini, A., & Ganapathi, M. (2024). Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy. European Journal of Medical Genetics, 71, 104968. https://doi.org/10.1016/j.ejmg.2024.104968
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Ma, M., Ganapathi, M., Zheng, Y., Tan, K.-L., Kanca, O., Bove, K. E., Quintanilla, N., Sag, S. O., Temel, S. G., LeDuc, C. A., McPartland, A. J., Pereira, E. M., Shen, Y., Hagen, J., Thomas, C. P., Nguyen Galván, N. T., Pan, X., Lu, S., Rosenfeld, J. A., … Bellen, H. J. (2024). Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine, 26(7), 101125. https://doi.org/10.1016/j.gim.2024.101125
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Levy, A. M., Ganapathi, M., Chung, W. K., & Tümer, Z. (2023). A deep intronic DLG4 variant resulting in DLG4‐related synaptopathy. Clinical Genetics, 105(1), 77–80. Portico. https://doi.org/10.1111/cge.14411
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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