F. Lucy Raymond
University of Cambridge(GB)Cambridge University Hospitals NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Retinal Development and Disorders, Congenital heart defects research
Most-Cited Works
- → A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited
- → ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions(2019)384 cited
- → Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation(2007)290 cited
- → Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease(2006)265 cited
- → Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children(2019)249 cited