Antonie Debra Kline

Instructor

1992 …2020

Research activity per year

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  • 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 journalArticlepeer-review

  • Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

    Connaughton, D. M., Dai, R., Owen, D. J., Marquez, J., Mann, N., Graham-Paquin, A. L., Nakayama, M., Coyaud, E., Laurent, E. M. N., St-Germain, J. R., Blok, L. S., Vino, A., Klämbt, V., Deutsch, K., Wu, C. H. W., Kolvenbach, C. M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T. M. & 79 others, Majmundar, A. J., Buerger, F., Onuchic-Whitford, A. C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., van der Ven, A. T., Rao, J., Ityel, H., Seltzsam, S., Rieke, J. M., Chen, J., Vivante, A., Hwang, D. Y., Kohl, S., Dworschak, G. C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S. B., Baum, M. A., Brilstra, E. H., Challman, T. D., Zyskind, J., Costin, C. E., Dipple, K. M., Duijkers, F. A., Ferguson, M., Fitzpatrick, D. R., Fick, R., Glass, I. A., Hulick, P. J., Kline, A. D., Krey, I., Kumar, S., Lu, W., Marco, E. J., Wentzensen, I. M., Mefford, H. C., Platzer, K., Povolotskaya, I. S., Savatt, J. M., Shcherbakova, N. V., Senguttuvan, P., Squire, A. E., Stein, D. R., Thiffault, I., Voinova, V. Y., Somers, M. J. G., Ferguson, M. A., Traum, A. Z., Daouk, G. H., Daga, A., Rodig, N. M., Terhal, P. A., van Binsbergen, E., Eid, L. A., Tasic, V., Rasouly, H. M., Lim, T. Y., Ahram, D. F., Gharavi, A. G., Reutter, H. M., Rehm, H. L., MacArthur, D. G., Lek, M., Laricchia, K. M., Lifton, R. P., Xu, H., Mane, S. M., Sanna-Cherchi, S., Sharrocks, A. D., Raught, B., Fisher, S. E., Bouchard, M., Khokha, M. K., Shril, S. & Hildebrandt, F., Oct 1 2020, In: American journal of human genetics. 107, 4, p. 727-742 16 p.

    Research output: Contribution to journalArticlepeer-review

  • PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review

    A. Almuqbil, M., Vernon, H. J., Ferguson, M. & Kline, A. D., Sep 2020, In: Molecular Genetics and Metabolism Reports. 24, 100613.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome

    Srivastava, S., Clark, B., Landy-Schmitt, C., Offermann, E. A., Kline, A. D., Wilkinson, S. T. & Grados, M. A., 2020, (Accepted/In press) In: Journal of Autism and Developmental Disorders.

    Research output: Contribution to journalArticlepeer-review

  • 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 journalArticlepeer-review

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