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1987 …2023

Research activity per year

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Dive into the research topics where Beth Pletcher is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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  • Long-term outcomes in ALG13-Congenital Disorder of Glycosylation

    Shah, R., Johnsen, C., Pletcher, B. A., Edmondson, A. C., Kozicz, T. & Morava, E., 2023, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

    Research output: Contribution to journalArticlepeer-review

  • A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome

    Upadhyay, R., Ruane, C., Umans, R., Pletcher, B. A., Khokhar, A. & Wong, K., 2022, In: Case Reports in Endocrinology. 2022, 8542281.

    Research output: Contribution to journalArticlepeer-review

    Open Access
  • Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M., & 37 othersGeßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., Aug 2022, In: Clinical Genetics. 102, 2, p. 98-109 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    1 Scopus citations
  • MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

    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., Cogne, B., & 50 othersIsidor, B., Nizon, M., Doummar, D., Valence, S., Héron, D., Keren, B., Mignot, C., Coutton, C., Devillard, F., Alaix, A. S., Amiel, J., Colleaux, L., Munnich, A., Poirier, K., Rio, M., Rondeau, S., Barcia, G., Callewaert, B., Dheedene, A., Kumps, C., Vergult, S., Menten, B., Chung, W. K., Hernan, R., Larson, A., Nori, K., Stewart, S., Wheless, J., Kresge, C., Pletcher, B. A., Caumes, R., Smol, T., Sigaudy, S., Coubes, C., Helm, M., Smith, R., Morrison, J., Wheeler, P. G., Kritzer, A., Jouret, G., Afenjar, A., Deleuze, J. F., Olaso, R., Boland, A., Poitou, C., Frebourg, T., Houdayer, C., Saugier-Veber, P., Nicolas, G. & Lecoquierre, F., Jan 2022, In: Human Genetics. 141, 1, p. 65-80 16 p.

    Research output: Contribution to journalArticlepeer-review

    9 Scopus citations
  • A trauma-informed approach to the pediatric COVID-19 response

    Chokshi, B., Pletcher, B. A. & Strait, J. S., Feb 2021, In: Current Problems in Pediatric and Adolescent Health Care. 51, 2, 100970.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    4 Scopus citations