Adeline Vanderver
Publications by Year
Research Areas
RNA regulation and disease, interferon and immune responses, RNA Research and Splicing, RNA and protein synthesis mechanisms, RNA modifications and cancer
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 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
- → Ubiquitous L1 Mosaicism in Hippocampal Neurons(2015)334 cited
- → Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study(2020)317 cited
- → Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations(2008)289 cited
- → Magnetic resonance imaging pattern recognition in hypomyelinating disorders(2010)283 cited
- → Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy(2011)267 cited
- → Case definition and classification of leukodystrophies and leukoencephalopathies(2015)254 cited