Annie Godwin – Research outputs — University of Portsmouth

EmailAnnie.Godwin@port.ac.uk

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2021
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.
Research output: Contribution to journal › Article › peer-review

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

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