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  1. No Access

    Article

    Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

    A search for variants in coding exons of 25 genome-wide association study risk genes in a large cohort of autoimmune patients finds that rare coding-region variants at known loci have a negligible role in comm...

    Karen A. Hunt, Vanisha Mistry, Nicholas A. Bockett, Tariq Ahmad, Maria Ban… in Nature (2013)

  2. No Access

    Article

    Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry

    Karen A Hunt, Deborah J Smyth, Tobias Balschun, Maria Ban… in Nature Genetics (2012)

  3. No Access

    Article

    Dense genoty** identifies and localizes multiple common and rare variant association signals in celiac disease

    David van Heel, Cisca Wijmenga and colleagues used a custom, high-density genoty** chip to examine 183 immune-related loci for their role in celiac disease. They report 13 new regions associated with celiac ...

    Gosia Trynka, Karen A Hunt, Nicholas A Bockett, Jihane Romanos… in Nature Genetics (2011)

  4. Article

    Correction: Corrigendum: Multiple common variants for celiac disease influencing immune gene expression

    Nat. Genet.; doi:10.1038/ng.543; corrected online 12 March 2010 In the version of this article initially published online, the P value ranges in the second paragraph of the Results section under (iii) and (iv)...

    Patrick C A Dubois, Gosia Trynka, Lude Franke, Karen A Hunt… in Nature Genetics (2010)

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  5. No Access

    Article

    Multiple common variants for celiac disease influencing immune gene expression

    David van Heel and colleagues report results of a large genome-wide association study of celiac disease. Most of the associated loci contain genes with immune functions, and over half harbor risk variants that...

    Patrick C A Dubois, Gosia Trynka, Lude Franke, Karen A Hunt… in Nature Genetics (2010)

  6. No Access

    Article

    A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

    We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia c...

    Ian M Morison, Elisabeth M Cramer Bordé, Emma J Cheesman… in Nature Genetics (2008)