Antonie Debra Kline

Instructor

1992 …2020

Research output per year

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Research Output

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

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. & 36 others, Worgan, L., Mallawaarachchi, A., Vogt, J., de Munnik, S. A., Dreyer, L., Baynam, G., Ewans, L., Stark, Z., Lunke, S., Gonçalves, 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., Adès, 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., Feb 1 2020, In : Human mutation. 41, 2, p. 449-464 16 p.

Research output: Contribution to journalArticle

  • Cornelia de Lange syndrome, related disorders, and the Cohesin complex: Abstracts from the 8th biennial scientific and educational symposium 2018

    Kline, A. D., Krantz, I. D., Bando, M., Shirahige, K., Chea, S., Sakata, T., Rao, S., Dorsett, D., Singh, V. P., Gerton, J. L., Horsfield, J. A., Calof, A. L., Katz, O., Grados, M., Raible, S., Barañano, K., Lyon, G., Musio, A., Carrico, C. S., Clemens, D. K. & 6 others, Caudill, P., Massa, V., McGill, B. E., Dommestrup, A., O'Connor, J. & Haaland, R. E., Jun 2019, In : American Journal of Medical Genetics, Part A. 179, 6, p. 1080-1090 11 p.

    Research output: Contribution to journalArticle

  • Cornelia de Lange syndrome in diverse populations

    Dowsett, L., Porras, A. R., Kruszka, P., Davis, B., Hu, T., Honey, E., Badoe, E., Thong, M. K., Leon, E., Girisha, K. M., Shukla, A., Nayak, S. S., Shotelersuk, V., Megarbane, A., Phadke, S., Sirisena, N. D., Dissanayake, V. H. W., Ferreira, C. R., Kisling, M. S., Tanpaiboon, P. & 45 others, Uwineza, A., Mutesa, L., Tekendo-Ngongang, C., Wonkam, A., Fieggen, K., Batista, L. C., Moretti-Ferreira, D., Stevenson, R. E., Prijoles, E. J., Everman, D., Clarkson, K., Worthington, J., Kimonis, V., Hisama, F., Crowe, C., Wong, P., Johnson, K., Clark, R. D., Bird, L., Masser-Frye, D., McDonald, M., Willems, P., Roeder, E., Saitta, S., Anyane-Yeoba, K., Demmer, L., Hamajima, N., Stark, Z., Gillies, G., Hudgins, L., Dave, U., Shalev, S., Siu, V., Ades, A., Dubbs, H., Raible, S., Kaur, M., Salzano, E., Jackson, L., Deardorff, M., Kline, A., Summar, M., Muenke, M., Linguraru, M. G. & Krantz, I. D., Feb 1 2019, In : American Journal of Medical Genetics, Part A. 179, 2, p. 150-158 9 p.

    Research output: Contribution to journalArticle

  • Antioxidant treatment ameliorates phenotypic features of SMC1A-mutated Cornelia de Lange syndrome in vitro and in vivo

    Cukrov, D., Newman, T. A. C., Leask, M., Leeke, B., Sarogni, P., Patimo, A., Kline, A. D., Krantz, I. D., Horsfield, J. A. & Musio, A., Jan 1 2018, In : Human Molecular Genetics. 27, 17, p. 3002-3011 10 p.

    Research output: Contribution to journalArticle