Sofie Ashford
Cambridge University Hospitals NHS Foundation Trust(GB)
Publications by Year
Research Areas
Genetic Associations and Epidemiology, Pancreatic function and diabetes, Epigenetics and DNA Methylation, Platelet Disorders and Treatments, RNA modifications and cancer
Most-Cited Works
- → Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells(2016)771 cited
- → Common genetic variation drives molecular heterogeneity in human iPSCs(2017)630 cited
- → Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease(2010)405 cited
- → LDL-cholesterol concentrations: a genome-wide association study(2008)355 cited
- → Germline selection shapes human mitochondrial DNA diversity(2019)247 cited
- → Whole-genome sequencing of a sporadic primary immunodeficiency cohort(2020)234 cited
- → KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation(2013)197 cited
- → A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss(2016)155 cited
- → A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies(2016)142 cited
- → Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations(2020)122 cited