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Annie Godwin

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  • 8 Article
  • 1 Chapter (peer-reviewed)
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  • 2025

    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.

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  • 2024

    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

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  • 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.

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  • 2022

    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

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  • 2021

    Anaplastic lymphoma kinase (alk), a neuroblastoma associated gene, is expressed in neural crest domains during embryonic development of Xenopus

    Moreno, M. M., Barrell, W. B., Godwin, A., Guille, M. & Liu, K. J., 1 Jun 2021, In: Gene Expression Patterns. 40, 10 p., 119183.

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  • Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

    Macken, W. L., Godwin, A., Wheway, G., Stals, K., Nazlamova, L., Ellard, S., Alfares, A., Aloraini, T., AlSubaie, L., Alfadhel, M., Alajaji, S., Wai, H. A., Self, J., Douglas, A. G. L., Kao, A. P., Guille, M. & Baralle, D., 25 Feb 2021, In: Genome Medicine. 13, 1, p. 1-19 19 p., 34.

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  • 2020

    Opposite modulation of RAC1 by mutations in TRIO is associated with distinct, domain specific neurodevelopmental disorders

    Barbosa, S., Greville-Heygate, S., Bonnet, M., Godwin, A. L., Fagotto-Kaufmann, C., Kajava, A. V., Laouteouet, D., Mawby, R., Wai, H. A., Dingemans, A., De Vries, B., Willems, M., Capri, Y., Mehta, S. G., Cox, H., Goudie, D., Vansenne, F., Turnpenny, P., Vincent, M. & Lesca, G. & 18 others, Hertecant, J., Rodriguez, D., Marion, G., Putoux, A., Ramsey, K., Cantagrel, V., Banka, S., Sarkar, A., Steeves, M., Parker, M., Clement, E., Moutton, S., Tran-Mau-Them, F., Piton, A., Guille, M., Debant, A., Schmidt, S. & Baralle, D., 5 Mar 2020, In: American Journal of Human Genetics. 106, 3, p. 338-355 18 p.

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  • 2018

    A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency

    Tordo, J., O'Leary, C., Antunes, A. S. L. M., Palomar, N., Aldrin-Kirk, P., Basche, M., Bennett, A., D'Souza, Z., Gleitz, H., Godwin, A., Holley, R. J., Parker, H., Liao, A. Y., Rouse, P., Youshani, A. S., Dridi, L., Martins, C., Levade, T., Stacey, K. B. & Davis, D. M. & 11 others, Dyer, A., Clément, N., Björklund, T., Ali, R. R., Agbandje-McKenna, M., Rahim, A. A., Pshezhetsky, A., Waddington, S. N., Linden, R. M., Bigger, B. W. & Henckaerts, E., 1 Jul 2018, In: Brain. 141, 7, p. 2014-2031 18 p.

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