Reid, Evan

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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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D’Aloia, M., Montieri, P., Schüle, R., Ishiura, H., Price, J., et al. (2012) · Journal of Clinical Investigation

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

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The hereditary spastic paraplegia protein strumpellin: Characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

Freeman, C., Seaman, M. N. J., & Reid, E. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Hereditary Neurological DisordersCellular transport and secretion

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., et al. (2023) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

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