Projects per year
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Collaborations and top research areas from the last five years
Projects
- 4 Finished
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Development and genetics of rapid neuroendocrine stress response
National Institute of General Medical Sciences
7/1/19 → 4/30/23
Project: Research project
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Building the mitochondrial genome editing repertoire
National Institute of Allergy and Infectious Diseases
8/21/18 → 7/31/23
Project: Research project
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Development of tools for site-directed analysis of gene function
Mcgrail, M. A., Friedberg, I., Essner, J. J., Clark, K. J. & Ekker, S. C.
6/1/16 → 2/29/24
Project: Research project
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Developing zebrafish models to reveal interactions between stress and addiction
National Institute on Drug Abuse
5/16/11 → 12/31/13
Project: Research project
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Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
Morales-Rosado, J. A., Schwab, T. L., Macklin-Mantia, S. K., Foley, A. R., Pinto e Vairo, F., Pehlivan, D., Donkervoort, S., Rosenfeld, J. A., Boyum, G. E., Hu, Y., Cong, A. T. Q., Lotze, T. E., Mohila, C. A., Saade, D., Bharucha-Goebel, D., Chao, K. R., Grunseich, C., Bruels, C. C., Littel, H. R., Estrella, E. A., & 10 others , Jun 1 2023, In: American journal of human genetics. 110, 6, p. 989-997 9 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Undiagnosed Diseases Network, May 4 2023, In: American journal of human genetics. 110, 5, p. 774-789 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Erratum: Impact of integrated translational research on clinical exome sequencing (Genetics in Medicine (2021) 23(3) (498–507), (S1098360021049455), (10.1038/s41436-020-01005-9))
Klee, E. W., Cousin, M. A., Pinto e Vairo, F., Morales-Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz-Rogers, L. E., Olson, R. J., Oliver, G. R., Sigafoos, A. N., Schwab, T. L., Zimmermann, M. T., Urrutia, R. A., Kaiwar, C., Gupta, A., Blackburn, P. R., Boczek, N. J., Prochnow, C. A., Lowy, R. J., & 40 others , Feb 2023, In: Genetics in Medicine. 25, 2, 100359.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
Mitochondrial Base Editing: Recent Advances towards Therapeutic Opportunities
Kar, B., Castillo, S. R., Sabharwal, A., Clark, K. J. & Ekker, S. C., Mar 2023, In: International journal of molecular sciences. 24, 6, 5798.Research output: Contribution to journal › Review article › peer-review
Open Access -
An optimized FusX assembly-based technique to introduce mitochondrial TC-to-TT variations in human cell lines
Kar, B., Sabharwal, A., Restrepo-Castillo, S., Simone, B. W., Clark, K. J. & Ekker, S. C., Jun 17 2022, In: STAR Protocols. 3, 2, 101288.Research output: Contribution to journal › Article › peer-review
Open Access