Turner, Gillian

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

Cited by 603

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 373

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Gilfillan, G. D., Selmer, K. K., Roxrud, I., Smith, R., Kyllerman, M., Eiklid, K., Kroken, M., Mattingsdal, M., Egeland, T., Stenmark, H., et al. (2008) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 232

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

Cited by 176

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Turner, G., Partington, M., Kerr, B., Mangelsdorf, M., & Gecz, J. (2002) · American Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 128

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

Cited by 123