Barbany G

Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel.

Orsmark-Pietras C, Lyander A, Ladenvall C, ..., Fioretos T, SciLifeLab Clinical Genomics Platform and Genomic Medicine Sweden

Genes Chromosomes Cancer 63 (7) e23257 [2024-07-00; online 2024-07-20]

Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Service] Clinical Genomics Uppsala [Technology development]

Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia.

Krali O, Marincevic-Zuniga Y, Arvidsson G, ..., Syvänen AC, Nordlund J

NPJ Precis Oncol 7 (1) 131 [2023-12-08; online 2023-12-08]

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

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.

Hakkarainen M, Kaaja I, Douglas SPM, ..., Kilpivaara O, Wartiovaara-Kautto U

Blood 141 (23) 2853-2866 [2023-06-08; online 2023-03-24]

Clinical Genomics Stockholm [Service]

Simultaneous Ultra-Sensitive Detection of Structural and Single Nucleotide Variants Using Multiplex Droplet Digital PCR in Liquid Biopsies from Children with Medulloblastoma.

Arthur C, Jylhä C, de Ståhl TD, ..., Sandvik U, Tham E

Cancers (Basel) 15 (7) - [2023-03-25; online 2023-03-25]

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