Browse by CSHL Author

Cheng, H., Capponi, S., Wakeling, E., Marchi, E., Li, Q., Zhao, M., Weng, C., Stefan, P. G., Ahlfors, H., Kleyner, R., Rope, A., Lumaka, A., Lukusa, P., Devriendt, K., Vermeesch, J., Posey, J. E., Palmer, E. E., Murray, L., Leon, E., Diaz, J., Worgan, L., Mallawaarachchi, A., Vogt, J., de Munnik, S. A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Goncalves, A. R., Soares, G., Oliveira, J., Fassi, E., Willing, M., Waugh, J. L., Faivre, L., Riviere, J. B., Moutton, S., Mohammed, S., Payne, K., Walsh, L., Begtrup, A., Guillen Sacoto, M. J., Douglas, G., Alexander, N., Buckley, M. F., Mark, P. R., Ades, L. C., Sandaradura, S. A., Lupski, J. R., Roscioli, T., Agrawal, P. B., Kline, A. D., Wang, K., Timmers, H. T. M., Lyon, G. J. (October 2019) Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Hum Mutat. ISSN 1059-7794

Paine, I., Posey, J. E., Grochowski, C. M., Jhangiani, S. N., Rosenheck, S., Kleyner, R., Marmorale, T., Yoon, M., Wang, K., Robison, R., Cappuccio, G., Pinelli, M., Magli, A., Coban Akdemir, Z., Hui, J., Yeung, W. L., Wong, B. K. Y., Ortega, L., Bekheirnia, M. R., Bierhals, T., Hempel, M., Johannsen, J., Santer, R., Aktas, D., Alikasifoglu, M., Bozdogan, S., Aydin, H., Karaca, E., Bayram, Y., Ityel, H., Dorschner, M., White, J. J., Wilichowski, E., Wortmann, S. B., Casella, E. B., Kitajima, J. P., Kok, F., Monteiro, F., Muzny, D. M., Bamshad, M., Gibbs, R. A., Sutton, V. R., Van Esch, H., Brunetti-Pierri, N., Hildebrandt, F., Brautbar, A., Van den Veyver, I. B., Glass, I., Lessel, D., Lyon, G. J., Lupski, J. R. (June 2019) Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet, 105 (2). pp. 302-316. ISSN 0002-9297

Cheng, H., Gottlieb, L., Marchi, E., Kleyner, R., Bhardwaj, P., Rope, A. F., Rosenheck, S., Moutton, S., Philippe, C., Eyaid, W., Alkuraya, F. S., Toribio, J., Mena, R., Prada, C. E., Stessman, H., Bernier, R., Wermuth, M., Kauffmann, B., Blaumeiser, B., Kooy, R. F., Baralle, D., Mancini, G. M. S., Conway, S. J., Xia, F., Chen, Z., Meng, L., Mihajlovic, L., Marmorstein, R., Lyon, G. J. (May 2019) Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. Hum Mol Genet, 28 (17). pp. 2900-2919. ISSN 0964-6906

Malcolmson, J., Kleyner, R., Tegay, D., Adams, W., Ward, K., Coppinger, J., Nelson, L., Meisler, M. H., Wang, K., Robison, R., Lyon, G. J. (November 2016) SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harb Mol Case Stud, 2 (6). a001073. ISSN 2373-2873