Cheryl Shoubridge

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

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 450 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen et al. · Nature Genetics · 2007 · 294 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

Benjamin Mayne, Tina Bianco‐Miotto, Sam Buckberry et al. · Frontiers in Genetics · 2016 · 156 citations · Full text

Life Sciences, Biology, Genetics +11

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar et al. · Molecular Psychiatry · 2009 · 149 citations · Full text

Medicine, Genetics, Molecular Genetics +10