Edward Blair
Nuffield Orthopaedic Centre(GB)University of Oxford(GB)Oxford BioMedica (United Kingdom)(GB)
Publications by Year
Research Areas
Cardiomyopathy and Myosin Studies, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Congenital heart defects research
Most-Cited Works
- → Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples(2016)751 cited
- → Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome(2006)664 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis(2001)528 cited
- → High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies(2017)451 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)