Rantapää-Dahlqvist S

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]

The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.

Lundtoft C, Knight A, Meadows JRS, ..., Lindblad-Toh K, Dahlqvist J

RMD Open 10 (2) - [2024-04-04; online 2024-04-04]

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

Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.

Ekman D, Sennblad B, Knight A, ..., Lindblad-Toh K, Dahlqvist J

Rheumatology (Oxford) 62 (9) 3213-3218 [2023-09-01; online 2023-04-03]

Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.

Lundtoft C, Eriksson D, Bianchi M, ..., Rönnblom L, Kämpe O

Eur. J. Endocrinol. 189 (2) 235-241 [2023-08-02; online 2023-08-09]

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]

Pathogenic antibody response to glucose-6-phosphate isomerase targets a modified epitope uniquely exposed on joint cartilage.

Li T, Ge C, Krämer A, ..., Gjertsson I, Holmdahl R

Ann. Rheum. Dis. 82 (6) 799-808 [2023-06-00; online 2023-03-01]

Bioinformatics (NBIS) [Service] Bioinformatics Long-term Support WABI [Service] Bioinformatics Support, Infrastructure and Training [Service]

Anti-citrullinated protein antibody specificities and pulmonary fibrosis in relation to genetic loci in early rheumatoid arthritis.

Brink M, Ljung L, Hansson M, ..., Klareskog L, Rantapää-Dahlqvist S

Rheumatology (Oxford) 61 (12) 4985-4990 [2022-11-28; online 2022-05-10]

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

Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA.

Dahlqvist J, Ekman D, Sennblad B, ..., Eriksson P, Lindblad-Toh K

Rheumatology (Oxford) 61 (8) 3461-3470 [2022-08-03; online 2021-12-11]

Bioinformatics (NBIS) [Collaborative] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] Bioinformatics Support, Infrastructure and Training [Collaborative] NGI SNP genotyping [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Pulmonary fibrosis in relation to genetic loci in an inception cohort of patients with early rheumatoid arthritis from northern Sweden.

Jönsson E, Ljung L, Norrman E, ..., Dahlqvist J, Dahlqvist SR

Rheumatology (Oxford) - (-) - [2021-05-16; online 2021-05-16]

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

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]