Fazzi, Elisa Maria

Top Publications

Top Publications Authored or Co-Authored by "Fazzi, Elisa Maria"

• 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 in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

  Nature Genetics, Volume 38, No. 6, Year 2006, Citations 390
• Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

  Nature Genetics, Volume 41, No. 9, Year 2009, Citations 247
• CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

  American Journal of Human Genetics, Volume 81, No. 1, Year 2007, Citations 145