Holly H Zimmerman, MS, CGC

Assistant Professor

  • 211 Citations
  • 8 h-Index
20102019
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Fingerprint Dive into the research topics where Holly H Zimmerman is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Haploinsufficiency Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Optic Atrophy Medicine & Life Sciences
Congenital Myasthenic Syndromes Medicine & Life Sciences
Globoid Cell Leukodystrophy Medicine & Life Sciences
Anophthalmos Medicine & Life Sciences
Arthrogryposis Medicine & Life Sciences

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Research Output 2010 2019

  • 211 Citations
  • 8 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

Arthrogryposis
Phenotype
X-Linked Genes
Zinc Fingers
Peripheral Nervous System
12 Citations (Scopus)

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

Calcium Channels
Atrophy
Mutation
Genes
Epilepsy
6 Citations (Scopus)

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

Congenital Myasthenic Syndromes
Mutation
Synapses
Acetylcholine
Phenotype
9 Citations (Scopus)

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

Muscle Hypotonia
Nucleotides
Peptide Hydrolases
Seizures
Yeasts
65 Citations (Scopus)

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

Mitochondrial Dynamics
Optic Atrophy
Autosomal Dominant Optic Atrophy
Exome
Mutation