Di Rocco, Maja

Top Publications

Top Publications Authored or Co-Authored by "Di Rocco, Maja"

• 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
• Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

  American Journal of Human Genetics, Volume 74, No. 2, Year 2004, Citations 168
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

  Brain, Volume 144, No. 5, Year 2021, Citations 100
• Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

  Genetics in Medicine, Volume 18, No. 5, Year 2016, Citations 72
• Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

  Human Mutation, Volume 30, No. 3, Year 2009, Citations 69