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An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood

Cassa, Christopher, Stacy Smith, William Docken, Erin Hoffman, Heather McLaughlin, Sung Chun, Ignaty Leshchiner, et al. 2016. “An Argument for Early Genomic Sequencing in Atypical Cases: A WISP3 Variant Leads to Diagnosis of Progressive Pseudorheumatoid Arthropathy of Childhood”. Rheumatology (Oxford) 55 (3): 586-9.

Functional implications of disease-specific variants in loci jointly associated with coeliac disease and rheumatoid arthritis

Gutierrez-Achury, Javier, Maria Magdalena Zorro, Isis Ricaño-Ponce, Daria Zhernakova, RACI Consortium Coeliac Disease Immunochip Consortium, Dorothee Diogo, Soumya Raychaudhuri, et al. 2016. “Functional Implications of Disease-Specific Variants in Loci Jointly Associated With Coeliac Disease and Rheumatoid Arthritis”. Hum Mol Genet 25 (1): 180-90.

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits

Diogo, Dorothee, Lisa Bastarache, Katherine Liao, Robert Graham, Robert Fulton, Jeffrey Greenberg, Steve Eyre, et al. 2015. “TYK2 Protein-Coding Variants Protect Against Rheumatoid Arthritis and Autoimmunity, With No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits”. PLoS One 10 (4): e0122271.