Emma Wakeling
Great Ormond Street Hospital for Children NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Epigenetics and DNA Methylation
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Diagnosis and management of Silver–Russell syndrome: first international consensus statement(2016)496 cited
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)287 cited
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Epigenotype–phenotype correlations in Silver–Russell syndrome