Associated Papers
Rare and Novel RELA Variants Contribute to Systemic Autoimmunity.
Downes MB et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.
Topping J et al.
Arthritis & Rheumatology (hoboken, N.j.), 2025
39492681 (PubMed )
Supplement: ART-77-582-s004.pdf
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
The role of admixture in the rare variant contribution to inflammatory bowel disease.
Astore C et al.
Genome Medicine, 2023
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
28008999 (PubMed )
Supplement: srep39831-s2.xls › Table_S7
SCN8A mutation in a child presenting with seizures and developmental delays.
Malcolmson J et al.
Cold Spring Harbor Molecular Case Studies, 2016
27900360 (PubMed )
Supplement: supp_mcs.a001073_Supplementary_Table_1.xlsx › VAAST_results_39010_recessive.c
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 343.163
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