Livingston, John H.

Top Publications

Top Publications Authored or Co-Authored by "Livingston, John H."

• 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 CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

  American Journal of Human Genetics, Volume 87, No. 3, Year 2010, Citations 121
• cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

  Nature Genetics, Volume 52, No. 12, Year 2020, Citations 98