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    No photo of Holly H Zimmerman

    Holly H Zimmerman, MS, CGC

    Person: Academic, Administrator


    Research Output

    Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

    Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordaß, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernández-Jaén, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 1 2019, In : Human mutation. 40, 12, p. 2270-2285 16 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

    Chemin, J., Siquier-Pernet, K., Nicouleau, M., Barcia, G., Ahmad, A., Medina-Cano, D., Hanein, S., Altin, N., Hubert, L., Bole-Feysot, C., Fourage, C., Nitschké, P., Thevenon, J., Rio, M., Blanc, P., Vidal, C., Bahi-Buisson, N., Desguerre, I., Munnich, A., Lyonnet, S. & 9 others, Boddaert, N., Fassi, E., Shinawi, M., Zimmerman, H., Amiel, J., Faivre, L., Colleaux, L., Lory, P. & Cantagrel, V., Jul 1 2018, In : Brain. 141, 7, p. 1998-2013 16 p.

    Research output: Contribution to journalArticle

  • 13 Scopus citations

    Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

    Wang, H., Salter, C. G., Refai, O., Hardy, H., Barwick, K. E. S., Akpulat, U., Kvarnung, M., Chioza, B. A., Harlalka, G., Taylan, F., Sejersen, T., Wright, J., Zimmerman, H. H., Karakaya, M., Stüve, B., Weis, J., Schara, U., Russell, M. A., Abdul-Rahman, O. A., Chilton, J. & 4 others, Blakely, R. D., Baple, E. L., Cirak, S. & Crosby, A. H., Nov 1 2017, In : Brain. 140, 11, p. 2838-2850 13 p.

    Research output: Contribution to journalArticle

  • 8 Scopus citations