Rodriguez, Diana P.

Top Publications

Top Publications Authored or Co-Authored by "Rodriguez, Diana P."

• Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling

  Nature Genetics, Volume 46, No. 5, Year 2014, Citations 494
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 219
• Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

  JAMA Neurology, Volume 75, No. 5, Year 2018, Citations 97
• Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

  Genetics in Medicine, Volume 22, No. 11, Year 2020, Citations 89