Sjöwall C

A high polygenic risk score is associated with SSA/SSB antibody positivity and early onset in primary Sjögren's disease.

Fugmann C, Reid S, Pucholt P, ..., Imgenberg-Kreuz J, Nordmark G

Rheumatology (Oxford) 64 (7) 4341-4346 [2025-07-01; online 2024-12-18]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service]

Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.

Sayadi A, Sandling JK, Eloranta ML, ..., Rönnblom L, DISSECT Consortium

Lupus Sci Med 12 (1) - [2025-02-11; online 2025-02-11]

NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.

Bianchi M, Kozyrev SV, Notarnicola A, ..., Lindblad-Toh K, with the DISSECT consortium and the ImmunoArray consortium

Arthritis & rheumatology (Hoboken, N.J.) - (-) - [2024-09-16; online 2024-09-16]

Bioinformatics Support for Computational Resources [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Antigen-presenting autoreactive B cells activate regulatory T cells and suppress autoimmune arthritis in mice.

Aoun M, Coelho A, Krämer A, ..., Burkhardt H, Holmdahl R

J. Exp. Med. 220 (11) - [2023-11-06; online 2023-09-11]

Bioinformatics (NBIS) [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Service]

B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus.

Hedenstedt A, Reid S, Sayadi A, ..., Sandling JK, Leonard D

Lupus Sci Med 10 (2) - [2023-10-00; online 2023-10-17]

NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.

Yavuz S, Pucholt P, Sandling JK, ..., Lindblad-Toh K, Rönnblom L

Lupus Sci Med 9 (1) - [2022-11-00; online 2022-11-05]

Bioinformatics Support for Computational Resources [Service] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Interaction between the STAT4 rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus.

Reid S, Hagberg N, Sandling JK, ..., Rönnblom L, Leonard D

Ann. Rheum. Dis. 80 (9) 1183-1189 [2021-09-00; online 2021-03-25]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Variants in BANK1 are associated with lupus nephritis of European ancestry.

Bolin K, Imgenberg-Kreuz J, Leonard D, ..., Rönnblom L, Nordmark G

Genes Immun. 22 (3) 194-202 [2021-07-00; online 2021-06-14]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.

Sandling JK, Pucholt P, Hultin Rosenberg L, ..., Lindblad-Toh K, Rönnblom L

Ann. Rheum. Dis. 80 (1) 109-117 [2021-01-00; online 2020-10-09]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

Toll-like receptors revisited; a possible role for TLR1 in lupus nephritis.

Yavuz S, Bianchi M, Kozyrev S, ..., Lindblad-Toh K, Rönnblom L

Ann. Rheum. Dis. 80 (3) 404-406 [2020-09-29; online 2020-09-29]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.

Reid S, Alexsson A, Frodlund M, ..., Rönnblom L, Leonard D

Ann. Rheum. Dis. 79 (3) 363-369 [2020-03-00; online 2019-12-11]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus.

Odqvist L, Jevnikar Z, Riise R, ..., Collins B, Vaarala O

Ann. Rheum. Dis. 78 (10) 1363-1370 [2019-10-00; online 2019-07-12]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

Farias FHG, Dahlqvist J, Kozyrev SV, ..., Rönnblom L, Lindblad-Toh K

Eur. J. Hum. Genet. 27 (3) 432-441 [2019-03-00; online 2018-11-20]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis.

Leonard D, Svenungsson E, Dahlqvist J, ..., Criswell LA, Rönnblom L

Ann. Rheum. Dis. 77 (7) 1063-1069 [2018-07-00; online 2018-03-07]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus.

Imgenberg-Kreuz J, Carlsson Almlöf J, Leonard D, ..., Syvänen AC, Sandling JK

Ann. Rheum. Dis. 77 (5) 736-743 [2018-05-00; online 2018-02-01]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]