John H. Livingston
Publications by Year
Research Areas
RNA regulation and disease, Epilepsy research and treatment, interferon and immune responses, RNA Research and Splicing, Mitochondrial Function and Pathology
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus(2006)883 cited
- → Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
- → Insulin receptors in the central nervous system: Localization, signalling mechanisms and functional aspects(1991)397 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)287 cited
- → Diffuse cortical dysplasia, or the 'double cortex' syndrome(1991)204 cited
- → cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing(2020)188 cited
- → Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond(2016)167 cited
- → Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum(2013)163 cited
- → A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1(2013)152 cited