Marcin Szynkiewicz
Manchester Academic Health Science Centre(GB)University of Manchester(GB)
Publications by Year
Research Areas
interferon and immune responses, Systemic Lupus Erythematosus Research, Inflammasome and immune disorders, RNA regulation and disease, RNA Research and Splicing
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
- → Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus(2012)286 cited
- → Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature(2011)254 cited
- → Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation(2013)190 cited
- → A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1(2013)152 cited
- → Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus(2010)115 cited
- → Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasis(2010)106 cited
- → Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome(2010)38 cited