Shalev, Stavit Allon

Top Publications

Top Publications Authored or Co-Authored by "Shalev, Stavit Allon"

• 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 TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

  Nature Genetics, Volume 42, No. 7, Year 2010, Citations 265
• Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

  European Journal of Human Genetics, Volume 21, No. 10, Year 2013, Citations 72
• Cornelia de Lange syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 179, No. 2, Year 2019, Citations 65
• Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

  The Lancet Neurology, Volume 12, No. 12, Year 2013, Citations 56