Publications 2025

PubMed DOI Crossref

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]

PubMed DOI Crossref

Whole genome sequencing in early onset advanced heart failure.

Linnér E, Czuba T, Gidlöf O, ..., Ehrencrona H, Smith JG

Sci Rep 15 (1) 4306 [2025-02-05; online 2025-02-05]

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

DOI Crossref

Modelling age at death reveals Nordic Corded Ware paleodemography

Tornberg A, Vandkilde H

Archaeol Anthropol Sci 17 (2) - [2025-02-00; online 2025-01-20]

Ancient DNA [Service]

PubMed DOI Crossref

Impact of excess sugar on the whole genome DNA methylation pattern in human sperm.

Jönsson J, Perfilyev A, Kugelberg U, ..., Öst A, Ling C

Epigenomics 17 (2) 89-104 [2025-02-00; online 2024-12-20]

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

PubMed DOI Crossref

Modulation of biological activities in adipose derived stem cells by histone deacetylation.

Abdallah S, Tabebi M, Qanadilo S, ..., Elmasry M, El-Serafi A

Sci Rep 15 (1) 3629 [2025-01-29; online 2025-01-29]

Clinical Genomics Linköping [Collaborative]

PubMed DOI Crossref

Ultra-Sensitive Detection of Bacterial Spores via SERS.

Segervald J, Malyshev D, Öberg R, ..., Wågberg T, Andersson M

ACS Sens. - (-) - [2025-01-23; online 2025-01-23]

Integrated Microscopy Technologies Umeå [Service]

PubMed DOI Crossref

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.

Ehn E, Eisfeldt J, Laffita-Mesa JM, ..., Nennesemo I, Graff C

Sci Rep 15 (1) 2912 [2025-01-23; online 2025-01-23]

Clinical Genomics Stockholm [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Chromosome-scale genome assembly reveals how repeat elements shape non-coding RNA landscapes active during newt limb regeneration.

Brown T, Mishra K, Elewa A, ..., Yun MH, Simon A

Cell Genomics - (-) 100761 [2025-01-22; online 2025-01-22]

NGI Short read [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Systems-level immunomonitoring in children with solid tumors to enable precision medicine.

Chen Q, Zhao B, Tan Z, ..., Ljungblad L, Brodin P

Cell - (-) - [2025-01-17; online 2025-01-17]

NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.

Scahill RI, Farag M, Murphy MJ, ..., Langbehn DR, Tabrizi SJ

Nat. Med. - (-) - [2025-01-17; online 2025-01-17]

Glycoproteomics and MS Proteomics [Service]

PubMed DOI Crossref

Structure of the T=13 capsid of infectious pancreatic necrosis virus (IPNV)-a salmonid birnavirus.

Munke A, Ahmed Abdelrahim Gamil A, Mikalsen AB, ..., Evensen Ø, Okamoto K

J. Virol. - (-) e0145424 [2025-01-16; online 2025-01-16]

Cryo-EM [Service]

PubMed DOI Crossref

A thermoplastic chip for 2D and 3D correlative assays combining screening and high-resolution imaging of immune cell responses.

van Ooijen H, Verron Q, Zhang H, ..., Sandström N, Önfelt B

Cell Reports Methods - (-) 100965 [2025-01-16; online 2025-01-16]

Integrated Microscopy Technologies Stockholm [Service]

PubMed DOI Crossref

The Progression of Mycosis Fungoides During Treatment with Mogamulizumab: A BIO-MUSE Case Study of the Tumor and Immune Response in Peripheral Blood and Tissue.

Johansson A, Kalliara E, Belfrage E, ..., Drott K, Ek S

Biomedicines 13 (1) - [2025-01-14; online 2025-01-14]

Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative]

PubMed DOI Crossref

Evolved and Plastic Gene Expression in Adaptation of a Specialist Fly to a Novel Niche.

Steward RA, Ortega Giménez J, Choudhary S, ..., Van Aken O, Runemark A

Mol. Ecol. - (-) e17653 [2025-01-09; online 2025-01-09]

NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

PubMed DOI Crossref

Spatial transcriptomics unveils estrogen-modulated immune responses and structural alterations in the ectocervical mucosa of depot medroxyprogesterone acetate users.

Kaldhusdal V, Boger MF, Tjernlund A, ..., Czarnewski P, Broliden K

Sci Rep 15 (1) 1014 [2025-01-06; online 2025-01-06]

Bioinformatics Support, Infrastructure and Training [Collaborative]

PubMed DOI Crossref

Single-cell proteo-transcriptomic profiling reveals altered characteristics of stem and progenitor cells in patients receiving cytoreductive hydroxyurea in early-phase chronic myeloid leukemia.

Komic H, Nilsson MS, Wennström L, ..., Thorén FB, Martner A

Haematologica 110 (1) 117-128 [2025-01-01; online 2025-01-01]

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

PubMed DOI Crossref

Dark carbon fixation is a common process in the water column of stratified boreal lakes.

Martin G, Rissanen AJ, Garcia SL, Peura S

Sci. Total Environ. 958 (-) 177433 [2025-01-01; online 2024-12-10]

NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Publications 2025

17 publications