Valente, Enza Maria

Top Publications

Top Publications Authored or Co-Authored by "Valente, Enza Maria"

• An SCN9A channelopathy causes congenital inability to experience pain

  Nature, Volume 444, No. 7121, Year 2006, Citations 1451
• 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 the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

  American Journal of Human Genetics, Volume 83, No. 2, Year 2008, Citations 360
• Translation initiator EIF4G1 mutations in familial parkinson disease

  American Journal of Human Genetics, Volume 89, No. 3, Year 2011, Citations 298