Displaying 1 - 8 of 8CSV
Elhussein, A., Baymuradov, U., Phatnani, H., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., Zaitlen, N., Berry, J. D., Malaspina, A., Fratta, P., … Gürsoy, G. (2024). A framework for sharing of clinical and genetic data for precision medicine applications. Nature Medicine, 30(12), 3578–3589. https://doi.org/10.1038/s41591-024-03239-5
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Radmard, S., Amlang, C. J., Weimer, L., & Pullman, S. L. (2023). A Case Series of Isolated Smiling Tremor: What Is the Phenomenology? Movement Disorders Clinical Practice, 11(2), 171–174. Portico. https://doi.org/10.1002/mdc3.13938
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Lu, J., Toro, C., Adams, D. R., Acosta, M. T., Adam, M., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., … Beck, A. (2024). LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants. BMC Genomics, 25(1). https://doi.org/10.1186/s12864-023-09935-9
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Fan, L.-C., McConn, K., Plataki, M., Kenny, S., Williams, N. C., Kim, K., Quirke, J. A., Chen, Y., Sauler, M., Möbius, M. E., Chung, K.-P., Area Gomez, E., Choi, A. M. K., Xu, J.-F., & Cloonan, S. M. (2023). Alveolar type II epithelial cell FASN maintains lipid homeostasis in experimental COPD. JCI Insight, 8(16). https://doi.org/10.1172/jci.insight.163403
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Thakore, N. J., Lapin, B. R., Mitsumoto, H., & Pooled Resource Open‐Access ALS Clinical Trials Consortium. (2022). Early initiation of riluzole may improve absolute survival in amyotrophic lateral sclerosis. Muscle & Nerve, 66(6), 702–708. Portico. https://doi.org/10.1002/mus.27724
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Šušnjar, U., Škrabar, N., Brown, A.-L., Abbassi, Y., Phatnani, H., Phatnani, H., Fratta, P., Kwan, J., Sareen, D., Broach, J. R., Simmons, Z., Arcila-Londono, X., Lee, E. B., Van Deerlin, V. M., Shneider, N. A., Fraenkel, E., Ostrow, L. W., Baas, F., … Buratti, E. (2022). Cell environment shapes TDP-43 function with implications in neuronal and muscle disease. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03253-8
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Brown, A.-L., Wilkins, O. G., Keuss, M. J., Hill, S. E., Zanovello, M., Lee, W. C., Bampton, A., Lee, F. C. Y., Masino, L., Qi, Y. A., Bryce-Smith, S., Gatt, A., Hallegger, M., Fagegaltier, D., Phatnani, H., Phatnani, H., Kwan, J., Sareen, D., … Fratta, P. (2022). TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, 603(7899), 131–137. https://doi.org/10.1038/s41586-022-04436-3
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