Projects per year
Fingerprint
The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.
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Collaborations and top research areas from the last five years
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Projects
- 1 Finished
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JAG2 variant cloning: Evaluation of a Muscular Dystrophy gene and a potential model system
Turner, J. (PI)
5/15/23 → 7/24/23
Project: Research project
Research output
- 4 Article
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Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development
Gunasekaran, M., Littel, H. R., Wells, N. M., Turner, J., Campos, G., Venigalla, S., Estrella, E. A., Ghosh, P. S., Daugherty, A. L., Stafki, S. A., Kunkel, L. M., Foley, A. R., Donkervoort, S., Bönnemann, C. G., Toledo-Bravo de Laguna, L., Nascimento, A., Natera-de Benito, D., Draper, I., Bruels, C. C. & Pacak, C. A. & 1 others, , Sep 2025, In: FEBS Journal. 292, 18, p. 4854-4869 16 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells
Littel, H. R., Gunasekaran, M., Daugherty, A. L., Wells, N. M., Turner, J., Bruels, C. C., Pacak, C. A., Draper, I. & Kang, P. B., Sep 2025, (Accepted/In press) In: FEBS Open Bio.Research output: Contribution to journal › Article › peer-review
Open Access -
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy
Turner, J., Bruels, C. C., Daugherty, A. L., Estrella, E. A., Stafki, S., Syeda, S. B., Littel, H. R., Pais, L., Ganesh, V. S., Lidov, H. G. W., Paine, S. M. L., Maddison, P., Harrison, R. E., Straub, V., Ghosh, P. S., Pacak, C. A., Kunkel, L. M., Draper, I., Topf, A. & Kang, P. B., Oct 2024, In: Muscle and Nerve. 70, 4, p. 843-850 8 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome
Stafki, S. A., Turner, J., Littel, H. R., Bruels, C. C., Truong, D., Knirsch, U., Stettner, G. M., Graf, U., Berger, W., Kinali, M., Jungbluth, H., Pacak, C. A., Hughes, J., Mirchi, A., Derksen, A., Vincent-Delorme, C., Theil, A. F., Bernard, G., Ellis, D. & Fassihi, H. & 4 others, , Apr 2023, In: Pediatric Neurology. 141, p. 79-86 8 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations