Guy Helman
Publications by Year
Research Areas
RNA regulation and disease, RNA modifications and cancer, RNA Research and Splicing, Mitochondrial Function and Pathology, RNA and protein synthesis mechanisms
Most-Cited Works
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Case definition and classification of leukodystrophies and leukoencephalopathies(2015)254 cited
- → A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies(2014)193 cited
- → Janus Kinase Inhibition in the Aicardi–Goutières Syndrome(2020)185 cited
- → Whole exome sequencing in patients with white matter abnormalities(2016)143 cited
- → SCN8A encephalopathy: Research progress and prospects(2016)133 cited
- → Update on Leukodystrophies: A Historical Perspective and Adapted Definition(2016)113 cited
- → Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect(2015)112 cited
- → Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy(2019)90 cited
- → A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy(2017)88 cited