Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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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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Research output
- 8 Article
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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., Jan 2026, In: FEBS Open Bio. 16, 1, p. 178-198 21 p.Research output: Contribution to journal › Article › peer-review
Open Access -
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 Link opens in a new tab Scopus citations -
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome
Rajamani, G., Stafki, S. A., Daugherty, A. L., Mantyh, W. G., Littel, H. R., Bruels, C. C., Pacak, C. A., Robbins, P. D., Niedernhofer, L. J., Abiona, A., Giunti, P., Mohammed, S., Laugel, V. & Kang, P. B., May 16 2024, In: Neurology: Clinical Practice. 14, 4, e200309.Research output: Contribution to journal › Article › peer-review
Open Access4 Link opens in a new tab Scopus citations -
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
Open Access1 Link opens in a new tab Scopus citations -
The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failure
Draper, I., Huang, W., Pande, S., Zou, A., Calamaras, T. D., Choe, R. H., Correia-Branco, A., Mei, A. L., Chen, H. H., Littel, H. R., Gunasekaran, M., Wells, N. M., Bruels, C. C., Daugherty, A. L., Wolf, M. J., Kang, P. B., Yang, V. K., Slonim, D. K., Wallingford, M. C. & Blanton, R. M., Nov 2024, In: FEBS Letters. 598, 21, p. 2670-2682 13 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations