D. Smedley
William Harvey Research Institute(GB)
Publications by Year
Research Areas
RNA and protein synthesis mechanisms, Protease and Inhibitor Mechanisms, Platelet Disorders and Treatments, Cell Adhesion Molecules Research, CRISPR and Genetic Engineering
Most-Cited Works
- → DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration(2020)52 cited
- → EMMA--mouse mutant resources for the international scientific community(2009)47 cited
- → Models for financial sustainability of biological databases and resources(2009)41 cited
- → Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome(2022)39 cited
- → Finding and sharing: new approaches to registries of databases and services for the biomedical sciences(2010)31 cited
- → Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines(2024)6 cited
- → Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism(2021)6 cited
- → Impact of Essential Genes on the Success of Genome Editing Experiments Generating 3,313 New Genetically Engineered Mouse Lines(2021)5 cited
- → Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome(2022)2 cited
- → Genetic and drug repurposing insights into hypertrophic cardiomyopathy: a machine learning approach(2025)