Fioretos T

13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking.

Yang M, Safavi S, Woodward EL, ..., Nord KH, Paulsson K

Blood 136 (8) 946-956 [2020-08-20; online 2020-05-10]

Clinical Genomics Lund [Service]

Clonal competition within complex evolutionary hierarchies shapes AML over time.

Sandén C, Lilljebjörn H, Orsmark Pietras C, ..., Ågerstam H, Fioretos T

Nat Commun 11 (1) 579 [2020-02-05; online 2020-02-05]

Clinical Genomics Lund

Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia.

Yang M, Vesterlund M, Siavelis I, ..., Lehtiö J, Paulsson K

Nat Commun 10 (1) 1519 [2019-04-03; online 2019-04-03]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Lund [Service] Global Proteomics and Proteogenomics [Technology development]

Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.

Li JF, Dai YT, Lilljebjörn H, ..., Chen SJ, Huang JY

Proc. Natl. Acad. Sci. U.S.A. 115 (50) E11711-E11720 [2018-12-11; online 2018-11-28]

Clinical Genomics Lund [Service]

Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia.

Gunnarsson R, Dilorenzo S, Lundin-Ström KB, ..., Isaksson A, Johansson B

Leukemia 32 (10) 2117-2125 [2018-10-00; online 2018-03-12]

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

Isolated myelosarcoma is characterized by recurrent NFE2 mutations and concurrent preleukemic clones in the bone marrow.

Lazarevic V, Orsmark-Pietras C, Lilljebjörn H, ..., Juliusson G, Fioretos T

Blood 131 (5) 577-581 [2018-02-01; online 2017-11-30]

Clinical Genomics Lund [Collaborative]

New oncogenic subtypes in pediatric B-cell precursor acute lymphoblastic leukemia.

Lilljebjörn H, Fioretos T

Blood 130 (12) 1395-1401 [2017-09-21; online 2017-08-04]

Clinical Genomics Lund [Collaborative]

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.

Tesi B, Davidsson J, Voss M, ..., Cammenga J, Bryceson YT

Blood 129 (16) 2266-2279 [2017-04-20; online 2017-02-15]

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

Distinct global binding patterns of the Wilms tumor gene 1 (WT1) -KTS and +KTS isoforms in leukemic cells.

Ullmark T, Järvstråt L, Sandén C, ..., Nilsson B, Gullberg U

Haematologica 102 (2) 336-345 [2017-02-00; online 2016-09-09]

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

Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.

Lilljebjörn H, Henningsson R, Hyrenius-Wittsten A, ..., Fontes M, Fioretos T

Nat Commun 7 (-) 11790 [2016-06-06; online 2016-06-06]

Clinical Genomics Lund [Collaborative]

Ebf1 heterozygosity results in increased DNA damage in pro-B cells and their synergistic transformation by Pax5 haploinsufficiency.

Prasad MA, Ungerbäck J, Åhsberg J, ..., Hagman J, Sigvardsson M

Blood 125 (26) 4052-4059 [2015-06-25; online 2015-04-02]

Bioinformatics Support and Infrastructure Bioinformatics Support, Infrastructure and Training

Deep sequencing and SNP array analyses of pediatric T-cell acute lymphoblastic leukemia reveal NOTCH1 mutations in minor subclones and a high incidence of uniparental isodisomies affecting CDKN2A.

Karrman K, Castor A, Behrendtz M, ..., Paulsson K, Johansson B

J Hematol Oncol 8 (-) 42 [2015-04-24; online 2015-04-24]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Intratumoral genome diversity parallels progression and predicts outcome in pediatric cancer.

Mengelbier LH, Karlsson J, Lindgren D, ..., Mayrhofer M, Gisselsson D

Nat Commun 6 (-) 6125 [2015-01-27; online 2015-01-27]

Array and Analysis Facility NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma.

Płaszczyca A, Nilsson J, Magnusson L, ..., Nord KH, Mertens F

Int. J. Biochem. Cell Biol. 53 (-) 475-481 [2014-08-00; online 2014-04-08]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma.

Walther C, Tayebwa J, Lilljebjörn H, ..., Fletcher CD, Mertens F

J. Pathol. 232 (5) 534-540 [2014-04-00; online 2014-01-29]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure