Pucholt P

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]

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]

Contribution of Rare Genetic Variation to Disease Susceptibility in a Large Scandinavian Myositis Cohort.

Bianchi M, Kozyrev SV, Notarnicola A, ..., Lindblad-Toh K, Lundberg IE

Arthritis & rheumatology (Hoboken, N.J.) 74 (2) 342-352 [2022-02-00; online 2021-12-23]

Bioinformatics Support for Computational Resources [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]

Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.

Lundtoft C, Pucholt P, Imgenberg-Kreuz J, ..., Rönnblom L, Hagberg N

PLoS Genet. 16 (10) e1009199 [2020-10-00; online 2020-10-26]

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