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Dr Anirban Majumdar

  • BS2 8AE

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  • 18 Conference Contribution (Conference Proceeding)
  • 18 Article (Academic Journal)
  • 1 Book/Film/Article review (Specialist Publication)

  • Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ-adducin model

    Sanchez Marco, S. B., Buhl, E., Firth, R., Zhu, B., Gainsborough, M., Beleza-Meireles, A., Moore, S., Caswell, R., Stals, K., Ellard, S., Kennedy, C., Hodge, J. J. L. & Majumdar, A., 1 Nov 2022, In: Clinical Genetics. 102, 6, p. 494-502 9 p.

    Research output: Contribution to journal › Article (Academic Journal) › peer-review

    Open Access
    File
    4 Citations (Scopus)
    89 Downloads (Pure)

  • 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 journal › Article (Academic Journal) › peer-review

    6 Citations (Scopus)

  • 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 journal › Article (Academic Journal) › peer-review

    117 Citations (Scopus)
View all 37 research outputs