Holly H Zimmerman, MS, CGC

  • 252 Citations
  • 9 h-Index

Research output per year

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Research Output

  • 252 Citations
  • 9 h-Index
  • 10 Article

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

  • 2 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

  • 19 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

  • 9 Scopus citations

    MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

    Eldomery, M. K., Akdemir, Z. C., Vögtle, F. N., Charng, W. L., Mulica, P., Rosenfeld, J. A., Gambin, T., Gu, S., Burrage, L. C., Al Shamsi, A., Penney, S., Jhangiani, S. N., Zimmerman, H. H., Muzny, D. M., Wang, X., Tang, J., Medikonda, R., Ramachandran, P. V., Wong, L. J., Boerwinkle, E. & 12 others, Gibbs, R. A., Eng, C. M., Lalani, S. R., Hertecant, J., Rodenburg, R. J., Abdul-Rahman, O. A., Yang, Y., Xia, F., Wang, M. C., Lupski, J. R., Meisinger, C. & Sutton, V. R., Nov 1 2016, In : Genome Medicine. 8, 1, 106.

    Research output: Contribution to journalArticle

  • 13 Scopus citations

    Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

    Abrams, A. J., Hufnagel, R. B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M. A., Campeanu, I. J., Griffin, L. B., Groenewald, S., Strickland, A. V., Tao, F., Speziani, F., Abreu, L., Schüle, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z. M. & 20 others, Sund, K. L., Wang, X., Krueger, L. A., Peng, Y., Prada, C. E., Prows, C. A., Schorry, E. K., Antonellis, A., Zimmerman, H. H., Abdul-Rahman, O. A., Yang, Y., Downes, S. M., Prince, J., Fontanesi, F., Barrientos, A., Németh, A. H., Carelli, V., Huang, T., Zuchner, S. & Dallman, J. E., Aug 30 2015, In : Nature Genetics. 47, 8, p. 926-932 7 p.

    Research output: Contribution to journalArticle

  • 86 Scopus citations