O'Sullivan, James

Top Publications

Top Publications Authored or Co-Authored by "O'Sullivan, James"

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

  Nature Genetics, Volume 44, No. 3, Year 2012, Citations 246
• Identification of mutations in CUL7 in 3-M syndrome

  Nature Genetics, Volume 37, No. 10, Year 2005, Citations 170
• Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

  The Lancet Rheumatology, Volume 2, No. 2, Year 2020, Citations 85
• Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

  Human Mutation, Volume 31, No. 5, Year 2010, Citations 36