Genetic Predisposition to Disease

Displaying 51 - 61 of 61CSV
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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Kehm, R. D., MacInnis, R. J., John, E. M., Liao, Y., Kurian, A. W., Genkinger, J. M., Knight, J. A., Colonna, S. V., Chung, W. K., Milne, R., Zeinomar, N., Dite, G. S., Southey, M. C., Giles, G. G., McLachlan, S.-A., Whitaker, K. D., Friedlander, M. L., Weideman, P. C., Glendon, G., … Terry, M. B. (2021). Recreational Physical Activity and Outcomes After Breast Cancer in Women at High Familial Risk. JNCI Cancer Spectrum, 5(6). https://doi.org/10.1093/jncics/pkab090
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Zoghbi, A. W., Dhindsa, R. S., Goldberg, T. E., Mehralizade, A., Motelow, J. E., Wang, X., Alkelai, A., Harms, M. B., Lieberman, J. A., Markx, S., & Goldstein, D. B. (2021). High-impact rare genetic variants in severe schizophrenia. Proceedings of the National Academy of Sciences, 118(51). https://doi.org/10.1073/pnas.2112560118
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Roostaei, T., Klein, H.-U., Ma, Y., Felsky, D., Kivisäkk, P., Connor, S. M., Kroshilina, A., Yung, C., Kaskow, B. J., Shao, X., Rhead, B., Ordovás, J. M., Absher, D. M., Arnett, D. K., Liu, J., Patsopoulos, N., Barcellos, L. F., Weiner, H. L., & De Jager, P. L. (2021). Proximal and distal effects of genetic susceptibility to multiple sclerosis on the T cell epigenome. Nature Communications, 12(1). https://doi.org/10.1038/s41467-021-27427-w
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Ng, B., Casazza, W., Kim, N. H., Wang, C., Farhadi, F., Tasaki, S., Bennett, D. A., De Jager, P. L., Gaiteri, C., & Mostafavi, S. (2021). Cascading epigenomic analysis for identifying disease genes from the regulatory landscape of GWAS variants. PLOS Genetics, 17(11), e1009918. https://doi.org/10.1371/journal.pgen.1009918
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Cook, L., Schulze, J., Verbrugge, J., Beck, J. C., Marder, K. S., Saunders-Pullman, R., Klein, C., Naito, A., Alcalay, R. N., Brice, A., Kumeh, A., West, A. B., Singleton, A., Naito, A., Schüle, B., Fiske, B., Gabbert, C., Klein, C., Marras, C., … Bonifati, V. (2021). The commercial genetic testing landscape for Parkinson’s disease. Parkinsonism & Related Disorders, 92, 107–111. https://doi.org/10.1016/j.parkreldis.2021.10.001
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Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., … Kruer, M. C. (2021). Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss. The American Journal of Human Genetics, 108(10), 2006–2016. https://doi.org/10.1016/j.ajhg.2021.08.003
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Kittner, S. J., Sekar, P., Comeau, M. E., Anderson, C. D., Parikh, G. Y., Tavarez, T., Flaherty, M. L., Testai, F. D., Frankel, M. R., James, M. L., Sung, G., Elkind, M. S. V., Worrall, B. B., Kidwell, C. S., Gonzales, N. R., Koch, S., Hall, C. E., Birnbaum, L., Mayson, D., … Woo, D. (2021). Ethnic and Racial Variation in Intracerebral Hemorrhage Risk Factors and Risk Factor Burden. JAMA Network Open, 4(8), e2121921. https://doi.org/10.1001/jamanetworkopen.2021.21921
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Fan, X., Wynn, J., Shang, N., Liu, C., Fedotov, A., Hallquist, M. L. G., Buchanan, A. H., Williams, M. S., Smith, M. E., Hoell, C., Rasmussen-Torvik, L. J., Peterson, J. F., Wiesner, G. L., Murad, A. M., Jarvik, G. P., Gordon, A. S., Rosenthal, E. A., Stanaway, I. B., Crosslin, D. R., … Chung, W. K. (2021). Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. JNCI Cancer Spectrum, 5(4). https://doi.org/10.1093/jncics/pkab044
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Liu, C., Zeinomar, N., Chung, W. K., Kiryluk, K., Gharavi, A. G., Hripcsak, G., Crew, K. D., Shang, N., Khan, A., Fasel, D., Manolio, T. A., Jarvik, G. P., Rowley, R., Justice, A. E., Rahm, A. K., Fullerton, S. M., Smoller, J. W., Larson, E. B., Crane, P. K., … Weng, C. (2021). Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry. JAMA Network Open, 4(8), e2119084. https://doi.org/10.1001/jamanetworkopen.2021.19084
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