Ogawa S

Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.

Moura PL, Mortera-Blanco T, Hofman IJ, ..., Jacobsen SEW, Hellström-Lindberg E

Cancer Res. 84 (2) 211-225 [2024-01-16; online 2023-11-03]

Bioinformatics Support for Computational Resources [Service] Global Proteomics and Proteogenomics [Service] NGI Short read [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Butler-Laporte G, Povysil G, Kosmicki JA, ..., Ferreira MAR, Richards JB

PLoS Genet. 18 (11) e1010367 [2022-11-00; online 2022-11-03]

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

Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2P95-mutated neoplasms.

Todisco G, Creignou M, Gallì A, ..., Cazzola M, Malcovati L

Leukemia 35 (8) 2371-2381 [2021-08-00; online 2020-12-21]

Clinical Genomics [Service] Clinical Genomics Uppsala [Service]

Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.

Bernard E, Nannya Y, Hasserjian RP, ..., Ogawa S, Papaemmanuil E

Nat. Med. 26 (10) 1549-1556 [2020-10-00; online 2020-08-03]

Clinical Genomics [Service] Clinical Genomics Uppsala [Service]

SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.

Malcovati L, Stevenson K, Papaemmanuil E, ..., Hellstrom-Lindberg E, Cazzola M

Blood 136 (2) 157-170 [2020-07-09; online 2020-04-30]

Clinical Genomics [Service] Clinical Genomics Uppsala [Service]

Gene expression and risk of leukemic transformation in myelodysplasia.

Shiozawa Y, Malcovati L, Gallì A, ..., Cazzola M, Ogawa S

Blood 130 (24) 2642-2653 [2017-12-14; online 2017-11-02]

Clinical Genomics [Service] Clinical Genomics Uppsala [Service]