David T. Bonthron
University of Leeds(GB)Chapel Allerton Hospital(GB)St James's University Hospital(GB)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Diet, Metabolism, and Disease
Most-Cited Works
- → Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus(2006)883 cited
- → Correction: Corrigendum: Endogenous fructose production and metabolism in the liver contributes to the development of metabolic syndrome(2013)797 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Platelet-derived growth factor B chain promoter contains a cis-acting fluid shear-stress-responsive element.(1993)633 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited