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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2007Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyField, M.; Tarpey, P.; Smith, R.; Edkins, S.; O'Meara, S.; Stevens, C.; Tofts, C.; Teague, J.; Butler, A.; Dicks, E.; Barthorpe, S.; Buck, G.; Cole, J.; Gray, K.; Halliday, K.; Hills, K.; Jenkinson, A.; Jones, D.; Menzies, A.; Mironenko, T.; et al.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
2002The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) - Results of an international collaborative studyMuller, W.; Burgart, L.; Krause-Paulus, R.; Thibodeau, S.; Almeida, M.; Edmonston, T.; Boland, C.; Sutter, C.; Jass, J.; Lindblom, A.; Lubinski, J.; MacDermot, K.; Sanders, D.; Morreau, H.; Muller, A.; Oliani, C.; Orntoft, T.; Ponz De Leon, M.; Rosty, C.; Rodriguez-Bigas, M.; et al.
2001A whole genome scan for differences in recombination rates among three Bos taurus breedsThomsen, H.; Reinsch, N.; Xu, N.; Bennewitz, J.; Looft, C.; Grupe, S.; Kuhn, C.; Brockmann, G.; Schwerin, M.; Leyhe-Horn, B.; Hiendleder, S.; Erhardt, G.; Medjugorac, I.; Russ, I.; Forster, M.; Brenig, B.; Reinhardt, F.; Reents, R.; Blumel, J.; Averdunk, G.; et al.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2009A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationTarpey, P.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S.; Hardy, C.; O'Meara, S.; Latimer, C.; Dicks, E.; Menzies, A.; Stephens, P.; Blow, M.; Greenman, C.; Xue, Y.; Tyler-Smith, C.; Thompson, D.; Gray, K.; Andrews, J.; Barthorpe, S.; Buck, G.; et al.
2007An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlationUpadyaya, M.; Huson, S.; Davies, M.; Thomas, N.; Chuzhanova, N.; Giovannini, S.; Evans, D.; Howard, E.; Kerr, B.; Kerr, B.; Consoli, C.; Side, L.; Adams, D.; Pierpont, M.; Hatchen, R.; Barnicoat, A.; Li, H.; Wallace, P.; Van Biervliet, J.; Stevenson, D.; et al.