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Annie Godwin

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  • 8 Article
  • 1 Chapter (peer-reviewed)

  • Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

    Seaby, E. G., Godwin, A., Meyer-Dilhet, G., Clerc, V., Grand, X., Fletcher, T., Monteiro, L., Kerkhofs, M., Carelli, V., Palombo, F., Seri, M., Olivucci, G., Grippa, M., Ciaccio, C., D’Arrigo, S., Iascone, M., Bermudez, M., Fischer, J., Di Donato, N. & Goesswein, S. & 25 others, Leung, M. L., Koboldt, D. C., Myers, C., Arnadottir, G. A., Stefansson, K., Sulem, P., Goldberg, E. M., Bruel, A.-L., Tran Mau Them, F., Willems, M., Bjornsson, H. T., Hognason, H. B., Thorolfsdottir, E. T., Agolini, E., Novelli, A., Zampino, G., Onesimo, R., Lachlan, K., Baralle, D., Rehm, H. L., O’Donnell-Luria, A., Courchet, J., Guille, M., Bourgeois, C. F. & Ennis, S., 6 Feb 2025, (Early online) In: Brain. 14 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    4 Downloads (Pure)

  • Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

    Kaiyrzhanov, R., Rad, A., Lin, S.-J., Bertoli-Avella, A., Kallemeijn, W. W., Godwin, A., Zaki, M. S., Huang, K., Lau, T., Petree, C., Efthymiou, S., Karimiani, E. G., Hempel, M., Normand, E. A., Rudnik-Schöneborn, S., Schatz, U. A., Baggelaar, M. P., Ilyas, M., Sultan, T. & Alvi, J. R. & 69 others, Ganieva, M., Fowler, B., Aanicai, R., Tayfun, G. A., Al saman, A., Alswaid, A., Amiri, N., Asilova, N., Shotelersuk, V., Yeetong, P., Azam, M., Babaei, M., Monajemi, G. B., Mohammadi, P., Samie, S., Banu, S. H., Basto, J. P., Kortüm, F., Bauer, M., Bauer, P., Beetz, C., Garshasbi, M., Issa, A. H., Eyaid, W., Ahmed, H., Hashemi, N., Hassanpour, K., Herman, I., Ibrohimov, S., Abdul-Majeed, B. A., Imdad, M., Isrofilov, M., Kaiyal, Q., Khan, S., Kirmse, B., Koster, J., Marques Lourenço, C., Mitani, T., Moldovan, O., Murphy, D., Najafi, M., Pehlivan, D., Rocha, M. E., Salpietro, V., Schmidts, M., Shalata, A., Mahroum, M., Talbeya, J. K., Taylor, R. W., Vazquez, D., Vetro, A., Waterham, H. R., Zaman, M., Schrader, T. A., Chung, W. K., Guerrini, R., Lupski, J. R., Gleeson, J., Suri, M., Jamshidi, Y., Bhatia, K. P., Vona, B., Severino, M., Schrader, M., Guille, M., Tate, E. W., Varshney, G. K., Houlden, H. & Maroofian, R., 1 Apr 2024, In: Brain. 147, 4, p. 1436–1456

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    44 Downloads (Pure)

  • Modelling human genetic disorders in Xenopus tropicalis

    Willsey, H. R., Seaby, E. G., Godwin, A., Ennis, S., Guille, M. & Grainger, R. M., 4 Jun 2024, In: Disease Models & Mechanisms. 17, 5, p. 1-12 12 p.

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    38 Downloads (Pure)

  • CRISPR/Cas9 gene disruption studies in F0 Xenopus tadpoles: understanding development and disease in the frog

    Abu-Daya, A. & Godwin, A., 1 Mar 2023, DNA Manipulation and Analysis. Scarlett, G. (ed.). 1st ed. New York: Humana Press, p. 111-130 20 p. (Methods in Molecular Biology; vol. 2633).

    Research output: Chapter in Book/Report/Conference proceeding › Chapter (peer-reviewed) › peer-review

  • Identification and functional evaluation of GRIA1 missense and truncation variants in patients with ID: an emerging neurodevelopmental phenotype

    Ismail, V., Grønborg Dorvil, L., Godwin, A., Sahakian, M., Ellard, S., Stals, K. L., Tatton-Brown, K., Foulds, N. C., Wheway, G., Parker, M., Lyngby, S. M., Pedersen, M. G., Desir, J., Bayat, A., Musgaard, M., Guille, M., Skov Kristensen, A. & Baralle, D., 7 Jul 2022, In: American Journal of Human Genetics. 109, 7, p. 1217-1241

    Research output: Contribution to journal › Article › peer-review

    Open Access
    File
    113 Downloads (Pure)
View all 9 research outputs