Miriam Bloom
George Washington University(US)
Publications by Year
Research Areas
RNA regulation and disease, RNA Research and Splicing, RNA modifications and cancer, Healthcare Policy and Management, 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
- → Whole exome sequencing in patients with white matter abnormalities(2016)143 cited
- → Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect(2015)112 cited
- → Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies(2017)71 cited
- → Identification of a Novel de Novo p.Phe932Ile KCNT1 Mutation in a Patient With Leukoencephalopathy and Severe Epilepsy(2013)66 cited
- → Intravenous Theophylline in Pediatric Status Asthmaticus(1995)30 cited
- → Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome(2013)23 cited
- → GJC2 promoter mutations causing Pelizaeus–Merzbacher-like disease(2013)21 cited
- → RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection(2016)20 cited
- → Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy(2018)19 cited