Woods, Geoff

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling

Randzavola, L. O., Mortimer, P. M., Garside, E., Dufficy, E. R., Schejtman, A., Roumelioti, G., Yu, L., Pardo, M., Spirohn, K., Tolley, C., et al. (2022) · eLife

Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune Disorders

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EROS is a selective chaperone regulating the phagocyte NADPH oxidase and purinergic signalling

Randzavola, L. O., Mortimer, P. M., Garside, E., Dufficy, E. R., Schejtman, A., Roumelioti, G., Yu, L., Pardo, M., Spirohn, K., Tolley, C., et al. (2021) · eLife

Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune Disorders

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