Moura PL

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

Kvarnung M, Pettersson M, Chun-On P, ..., Nordgren A, Tesi B

Eur. J. Hum. Genet. 33 (5) 580-587 [2025-05-00; online 2024-11-30]

Clinical Genomics [Service] Clinical Genomics Stockholm [Service]

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]

Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.

Todisco G, Creignou M, Bernard E, ..., Papaemmanuil E, Hellström-Lindberg E

Clin. Cancer Res. 29 (20) 4256-4267 [2023-10-13; online 2023-07-27]

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