Irccs Fondazione Stella Maris

Top Publications

Top Publications Authored or Co-Authored in "Irccs Fondazione Stella Maris"

• 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
• Infant wellbeing at 2 years of age in the Growth Restriction Intervention Trial (GRIT): Multicentred randomised controlled trial

  Lancet, Volume 364, No. 9433, Year 2004, Citations 350
• Virtual Histology of Cortical Thickness and Shared Neurobiology in 6 Psychiatric Disorders

  JAMA Psychiatry, Volume 78, No. 1, Year 2021, Citations 129
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Comparative analysis of 2-year outcomes in GRIT and TRUFFLE trials

  Ultrasound in Obstetrics and Gynecology, Volume 55, No. 1, Year 2020, Citations 100