Genetic Variation

Displaying 1 - 11 of 11CSV
Lee, D. S. M., Cardone, K. M., Zhang, D. Y., Tsao, N. L., Abramowitz, S., Sharma, P., DePaolo, J. S., Conery, M., Aragam, K. G., Biddinger, K., Dilitikas, O., Hoffman-Andrews, L., Judy, R. L., Khan, A., Kullo, I. J., Puckelwartz, M. J., Reza, N., Satterfield, B. A., Singhal, P., … Damrauer, S. M. (2025). Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum. Nature Genetics, 57(4), 829–838. https://doi.org/10.1038/s41588-025-02140-2
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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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Wojcik, M. H., Lemire, G., Berger, E., Zaki, M. S., Wissmann, M., Win, W., White, S. M., Weisburd, B., Wieczorek, D., Waddell, L. B., Verboon, J. M., VanNoy, G. E., Töpf, A., Tan, T. Y., Syrbe, S., Strehlow, V., Straub, V., Stenton, S. L., Snow, H., … O’Donnell-Luria, A. (2024). Genome Sequencing for Diagnosing Rare Diseases. New England Journal of Medicine, 390(21), 1985–1997. https://doi.org/10.1056/nejmoa2314761
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Luo, Y., Ferrada, M. A., Sikora, K. A., Rankin, C., Alessi, H. D., Kastner, D. L., Deng, Z., Zhang, M., Merkel, P. A., Kraus, V. B., Allen, A. S., & Grayson, P. C. (2023). Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study. Annals of the Rheumatic Diseases, 83(2), 253–260. https://doi.org/10.1136/ard-2023-224732
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Schmidt, R. J., Steeves, M., Bayrak-Toydemir, P., Benson, K. A., Coe, B. P., Conlin, L. K., Ganapathi, M., Garcia, J., Gollob, M. H., Jobanputra, V., Luo, M., Ma, D., Maston, G., McGoldrick, K., Palculict, T. B., Pesaran, T., Pollin, T. I., Qian, E., Rehm, H. L., … Fan, Y. (2024). Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group. Genetics in Medicine, 26(3), 101036. https://doi.org/10.1016/j.gim.2023.101036
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Schulz, V. E., Tuff, J. F., Tough, R. H., Lewis, L., Chimukangara, B., Garrett, N., Abdool Karim, Q., Abdool Karim, S. S., McKinnon, L. R., Kharsany, A. B. M., & McLaren, P. J. (2023). Host genetic variation at a locus near CHD1L impacts HIV sequence diversity in a South African population. Journal of Virology, 97(10). https://doi.org/10.1128/jvi.00954-23
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McLaren, P. J., Porreca, I., Iaconis, G., Mok, H. P., Mukhopadhyay, S., Karakoc, E., Cristinelli, S., Pomilla, C., Bartha, I., Thorball, C. W., Tough, R. H., Angelino, P., Kiar, C. S., Carstensen, T., Fatumo, S., Porter, T., Jarvis, I., Skarnes, W. C., Bassett, A., … Fellay, J. (2023). Africa-specific human genetic variation near CHD1L associates with HIV-1 load. Nature, 620(7976), 1025–1030. https://doi.org/10.1038/s41586-023-06370-4
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Columbia Affiliation
Saunders, G. R. B., Wang, X., Chen, F., Jang, S.-K., Liu, M., Wang, C., Gao, S., Jiang, Y., Khunsriraksakul, C., Otto, J. M., Addison, C., Akiyama, M., Albert, C. M., Aliev, F., Alonso, A., Arnett, D. K., Ashley-Koch, A. E., Ashrani, A. A., Barnes, K. C., … Vrieze, S. (2022). Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature, 612(7941), 720–724. https://doi.org/10.1038/s41586-022-05477-4
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Coursimault, J., Guerrot, A.-M., Morrow, M. M., Schramm, C., Zamora, F. M., Shanmugham, A., Liu, S., Zou, F., Bilan, F., Le Guyader, G., Bruel, A.-L., Denommé-Pichon, A.-S., Faivre, L., Tran Mau-Them, F., Tessarech, M., Colin, E., El Chehadeh, S., Gérard, B., Schaefer, E., … Lecoquierre, F. (2021). MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Human Genetics, 141(1), 65–80. https://doi.org/10.1007/s00439-021-02383-z
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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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Cable, J., Purcell, R. H., Robinson, E., Vorstman, J. A. S., Chung, W. K., Constantino, J. N., Sanders, S. J., Sahin, M., Dolmetsch, R. E., Shah, B. M., Thurm, A., Martin, C. L., Bearden, C. E., & Mulle, J. G. (2021). Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report. Annals of the New York Academy of Sciences, 1506(1), 5–17. Portico. https://doi.org/10.1111/nyas.14658
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