Measuring shared variants in cohorts of discordant siblings with applications to autism. Ye, K., Iossifov, I., Levy, D., Yamrom, B., Buja, A., Krieger, A. E., Wigler, M., Iossifov, I.ĭamaging de novo mutations diminish motor skills in children on the autism spectrum. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.īuja, A., Volfovsky, N., Krieger, A. E., Cervera, A., Mohammadi, P., Aguet, F., Reverter, F., Wolman, A., Guigo, R., Iossifov, I., Vasileva, A., Lappalainen, T. A.ĭe novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.Ĭastel, S. W., Pettinato, R., Racher, H., Rinne, T., Romano, C., Sanders, V. L., Judd, E., Kaiwar, C., Keren, B., Klee, E. H., van Dijck, A., Doummar, D., van Eerde, A. S., van Binsbergen, E., van den Boogaard, M. Neurobiology of Learning and Memory, 171 (107203). N-terminal Variant Asp14Asn of the Human p70 S6 Kinase 1 Enhances Translational Signaling Causing Different Effects in Developing and Mature Neuronal Cells. Venkatasubramani, J.P., Subramanyam, P., Pal, R., Reddy, B.K., Srinivasan, D.J., Chattarji, S., Iossifov, I., Klann, E., Bhattacharya, S. Mapping and characterization of structural variation in 17,795 human genomes. Rates of contributory de novo mutation in high and low-risk autism families.Ībel, Haley J, Larson, David E, Regier, Allison A, Chiang, Colby, Das, Indraniel, Kanchi, Krishna L, Layer, Ryan M, Neale, Benjamin M, Salerno, William J, Reeves, Catherine, Buyske, Steven, NHGRI Centers for Common Disease Genomics,, Matise, Tara C, Muzny, Donna M, Zody, Michael C, Lander, Eric S, Dutcher, Susan K, Stitziel, Nathan O, Hall, Ira M Yoon, Seungtai, Munoz, Adriana, Yamrom, Boris, Lee, Yoon-Ha, Andrews, Peter, Marks, Steven, Wang, Zihua, Reeves, Catherine, Winterkorn, Lara, Krieger, Abba M, Buja, Andreas, Pradhan, Kith, Ronemus, Michael, Baldwin, Kristin K, Levy, Dan, Wigler, Michael, Iossifov, Ivan
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