Cheryl Shoubridge
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genomics and Chromatin Dynamics, RNA Research and Splicing
Most-Cited Works
- → A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
- → X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment(2008)444 cited
- → Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation(2007)290 cited
- → The genetic landscape of intellectual disability arising from chromosome X(2009)210 cited
- → ARX spectrum disorders: making inroads into the molecular pathology(2010)169 cited
- → Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans(2016)151 cited
- → Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability(2010)146 cited
- → Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism(2009)146 cited
- → Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability(2011)125 cited
- → A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability(2012)107 cited