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Dive into the research topics where Anirban Majumdar is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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  • A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency

    Pula, S., Urankar, K., Norman, A., Pierre, G., Langton-Hewer, S., Selby, V., Mason, F., Vijayakumar, K., McFarland, R., Taylor, R. W. & Majumdar, A., Feb 2020, In: Neuromuscular Disorders. 30, 2, p. 159-164 6 p.

    Research output: Contribution to journalArticle (Academic Journal)peer-review

  • cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

    Uggenti, C., Lepelley, A., Depp, M., Badrock, A. P., Rodero, M. P., El-Daher, M-T., Rice, G. I., Dhir, S., Wheeler, A. P., Dhir, A., Albawardi, W., Frémond, M-L., Seabra, L., Doig, J., Blair, N., Martin-Niclos, M. J., Della Mina, E., Rubio-Roldán, A., García-Pérez, J. L., Sproul, D. & 36 others, Rehwinkel, J., Hertzog, J., Boland-Auge, A., Olaso, R., Deleuze, J-F., Baruteau, J., Brochard, K., Buckley, J., Cavallera, V., Cereda, C., De Waele, L. M. H., Dobbie, A., Doummar, D., Elmslie, F., Koch-Hogrebe, M., Kumar, R., Lamb, K., Livingston, J. H., Majumdar, A., Lorenço, C. M., Orcesi, S., Peudenier, S., Rostasy, K., Salmon, C. A., Scott, C., Tonduti, D., Touati, G., Valente, M., van der Linden, H., Van Esch, H., Vermelle, M., Webb, K., Jackson, A. P., Reijns, M. A. M., Gilbert, N. & Crow, Y. J., Dec 2020, In: Nature Genetics. 52, 12, p. 1364-1372 9 p.

    Research output: Contribution to journalArticle (Academic Journal)peer-review

  • Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants

    Forrester, N., Rattihalli, R., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Dick, D., Buxton, C., Greenslade, M. & Majumdar, A., 20 Mar 2020, In: Journal of neuromuscular diseases. 7, 2, p. 137-143 7 p.

    Research output: Contribution to journalArticle (Academic Journal)peer-review