Moon, Jenny

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Tarpey, P., Parnau, J., Blow, M., Woffendin, H., Bignell, G., Cox, C., Cox, J., Davies, H., Edkins, S., Holden, S., et al. (2004) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

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Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation

Tarpey, P. S., Stevens, C., Teague, J., Edkins, S., O’Meara, S., Avis, T., Barthorpe, S., Buck, G., Butler, A., Cole, J., et al. (2006) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersCellular transport and secretion

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