Diana Rodriguez
Nationwide Children's Hospital(US)Emory University(US)Inserm(FR)Ponce Health Sciences University(PR)University of California, San Francisco(US)George Washington University(US)Sorbonne Université(FR)Hôpital Armand-Trousseau(FR)Assistance Publique – Hôpitaux de Paris(FR)Centre de Référence des Maladies Autoinflammatoires et des Amyloses(FR)International Union of Railways(FR)University Memory and Aging Center(US)The Ohio State University(US)
Publications by Year
Research Areas
RNA regulation and disease, RNA Research and Splicing, Neurofibromatosis and Schwannoma Cases, Fetal and Pediatric Neurological Disorders, RNA modifications and cancer
Most-Cited Works
- → Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease(2001)683 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron(2006)537 cited
- → Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): A retrospective study of 104 patients(2002)286 cited
- → Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy(2011)