Snævar Sigurðsson

Research interests

Publications

• A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

  Nature Communications · 2018 · https://doi.org/10.1038/s41467-018-06964-x

• Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2543

• Genome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/B

  Genome biology · 2013 · https://doi.org/10.1186/gb-2013-14-12-r132

• Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping

  Research Explorer (The University of Manchester) · 2011 · https://doi.org/10.1371/journal.pgen.1002316

• Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse

  Science · 2009 · https://doi.org/10.1126/science.1178158

• Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

  Journal of Medical Genetics · 2008 · https://doi.org/10.1136/jmg.2007.055012

• A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

  Human Molecular Genetics · 2008 · https://doi.org/10.1093/hmg/ddn184

• Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis

  Arthritis & Rheumatism · 2007 · https://doi.org/10.1002/art.22704

• Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus

  Human Molecular Genetics · 2007 · https://doi.org/10.1093/hmg/ddm359

• An insertion deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases

  Human Molecular Genetics · 2007 · https://doi.org/10.1093/hmg/ddm259

• Three functional variants of IFN regulatory factor 5 ( IRF5 ) define risk and protective haplotypes for human lupus

  Proceedings of the National Academy of Sciences · 2007 · https://doi.org/10.1073/pnas.0701266104

• Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus

  The American Journal of Human Genetics · 2005 · https://doi.org/10.1086/428480

• Detection of Skin Cancer by Classification of Raman Spectra

  IEEE Transactions on Biomedical Engineering · 2004 · https://doi.org/10.1109/tbme.2004.831538

Current projects

No projects listed.