Cheryl Shoubridge

Cheryl Shoubridge

University of Adelaide - Adelaide / Australia
Medical and Health Sciences / Medical Genetics
AD Scientific Index ID: 4122
Adelaide University
person_outline Cheryl Shoubridge's MOST POPULAR ARTICLES
1-) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...Nature genetics 41 (5), 535-543, 20098482009
2-) X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...Nature genetics 40 (6), 776-781, 20084302008
3-) Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationPS Tarpey, F Lucy Raymond, LS Nguyen, J Rodriguez, A Hackett, ...Nature genetics 39 (9), 1127-1133, 20072682007
4-) The genetic landscape of intellectual disability arising from chromosome XJ Gécz, C Shoubridge, M CorbettTrends in Genetics 25 (7), 308-316, 20092232009
5-) ARX spectrum disorders: making inroads into the molecular pathologyC Shoubridge, T Fullston, J GéczHuman mutation 31 (8), 889-900, 20101812010