Burns, Siobhan Oisin

Top Publications

Top Publications Authored or Co-Authored by "Burns, Siobhan Oisin"

• Specific alleles of CLN7/MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy

  Investigative Ophthalmology and Visual Science, Volume 58, No. 7, Year 2017, Citations 100
• Clinical and immunological phenotype of patients with primary immunodeficiency due to damaging mutations in NFKB2

  Frontiers in Immunology, Volume 10, No. MAR, Article 297, Year 2019, Citations 84
• Natural killer cells from patients with recombinase-activating gene and non-homologous end joining gene defects comprise a higher frequency of CD56^bright NKG2A⁺⁺⁺ cells, and yet display increased degranulation and higher perforin content

  Frontiers in Immunology, Volume 8, No. JUL, Article 798, Year 2017, Citations 53
• Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype

  Journal of Allergy and Clinical Immunology, Volume 143, No. 2, Year 2019, Citations 33
• Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis

  Blood, Volume 136, No. 17, Year 2020, Citations 22