Holly H Zimmerman, MS, CGC

Assistant Professor

  • 197 Citations
  • 7 h-Index
20102018
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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.

  • 1 Similar Profiles
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
Neurocutaneous Syndromes Medicine & Life Sciences

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Research Output 2010 2018

  • 197 Citations
  • 7 h-Index
  • 9 Article
7 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. 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
60 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
22 Citations (Scopus)

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

Schilter, K., Reis, L., Schneider, A., Bardakjian, T., Abdul-Rahman, O., Kozel, B., Zimmerman, H. H., Broeckel, U. & Semina, E., Nov 1 2013, In : Clinical Genetics. 84, 5, p. 473-481 9 p.

Research output: Contribution to journalArticle

Anophthalmos
Microphthalmos
Genome
Mutation
Eye Diseases