John H. Livingston
Leeds Teaching Hospitals NHS Trust(GB)
Publications by Year
Research Areas
interferon and immune responses, RNA regulation and disease, Systemic Lupus Erythematosus Research, RNA Research and Splicing, Inflammasome and immune disorders
Most-Cited Works
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Aicardi‐Goutières syndrome: an important Mendelian mimic of congenital infection(2008)117 cited
- → Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function(2020)110 cited
- → A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus(2009)48 cited
- → Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome(2016)38 cited
- → A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration(2020)25 cited
- → Overexpression of an unstable intrinsic factor–cobalamin receptor in Imerslund–Gräsbeck syndrome(1998)20 cited
- → Long term outcome in non-multiple sclerosis paediatric acquired demyelinating syndromes(2024)7 cited
- → ATRX Deficiency Drives Aberrant Type I Interferon Signalling Through cGAS-Dependent Transcriptional Dysregulation(2025)2 cited