Clinical Genomics Uppsala

SciLifeLab National facility since 2013.

69 publications

Year 2020

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
pii: 10.1038/s41591-020-1008-z
Nat. Med. 26 (10) 1549-1556 [2020-10-00; online 2020-08-03]
Clinical Genomics Uppsala [Service]
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, ..., Ding L, PCAWG Consortium
pii: 10.1038/s41467-020-18151-y pmc: PMC7505971
Nat Commun 11 (1) 4748 [2020-09-21; online 2020-09-21]
Clinical Genomics Uppsala [Service]
Sex differences in oncogenic mutational processes.
Li CH, Prokopec SD, Sun RX, ..., Boutros PC, PCAWG Consortium
pii: 10.1038/s41467-020-17359-2 pmc: PMC7455744
Nat Commun 11 (1) 4330 [2020-08-28; online 2020-08-28]
Clinical Genomics Uppsala [Service]
Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.
Engvall M, Cahill N, Jonsson BI, ..., Hallböök H, Cavelier L
pii: 10.1186/s12920-020-00739-4 pmc: PMC7388219
BMC Med Genomics 13 (1) 106 [2020-07-29; online 2020-07-29]
Clinical Genomics Uppsala [Technology development]
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
pii: 454668 pmc: PMC7362582
Blood 136 (2) 157-170 [2020-07-09; online 2020-04-30]
Clinical Genomics Uppsala [Service]
Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.
Sutton L, Ljungström V, Enjuanes A, ..., Rosenquist R, European Research Initiative on CLL (ERIC)
pii: haematol.2019.234716
Haematologica - (-) - [2020-04-09; online 2020-04-09]
Clinical Genomics Uppsala [Service]

Year 2019

A clonal expression biomarker associates with lung cancer mortality.
Biswas D, Birkbak NJ, Rosenthal R, ..., Swanton C, TRACERx Consortium
pii: 10.1038/s41591-019-0595-z
Nat. Med. 25 (10) 1540-1548 [2019-10-00; online 2019-10-07]
Clinical Genomics Uppsala [Collaborative]

Year 2018

Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia
Shiozawa Y, Malcovati L, Gallì A, ..., Ogawa S, Cazzola M
EBI: EGAS00001002346
Nat Commun 9 (1) - [2018-12-00; online 2018-09-07]
Clinical Genomics Uppsala [Service]
LMO7 and LIMCH1 interact with LRIG proteins in lung cancer, with prognostic implications for early-stage disease.
Karlsson T, Kvarnbrink S, Holmlund C, ..., Johansson M, Hedman H
pii: S0169-5002(18)30576-2
Lung Cancer 125 (-) 174-184 [2018-11-00; online 2018-09-24]
Clinical Genomics Uppsala [Collaborative]
appreci8: a pipeline for precise variant calling integrating 8 tools
Sandmann S, Karimi M, de Graaf AO, ..., Jansen JH, Dugas M
- - (-) - [2018-06-26; online 2018-06-26]
Clinical Genomics Uppsala [Service]

Year 2017

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 Uppsala [Service]
RANK rewires energy homeostasis in lung cancer cells and drives primary lung cancer.
Rao S, Sigl V, Wimmer RA, ..., Dougall W, Penninger JM
pii: gad.304162.117 pmc: PMC5733500
Genes Dev. 31 (20) 2099-2112 [2017-10-15; online 2017-11-08]
Clinical Genomics Uppsala [Collaborative]
Tumor SHB gene expression affects disease characteristics in human acute myeloid leukemia.
Jamalpour M, Li X, Cavelier L, ..., Höglund M, Welsh M
Tumour Biol. 39 (10) 1010428317720643 [2017-10-00; online 2017-10-07]
Clinical Genomics Uppsala [Collaborative]
The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes
Yip BH, Steeples V, Repapi E, ..., Pellagatti A, Boultwood J
- 127 (9) 3557-3557 [2017-09-01; online 2017-09-01]
Clinical Genomics Uppsala [Service]
SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells
Mortera-Blanco T, Dimitriou M, Woll PS, ..., Jacobsen SEW, Hellström-Lindberg E
Blood 130 (7) 881-890 [2017-08-17; online 2017-06-20]
Clinical Genomics Uppsala [Service]

Year 2016

Frequent NFKBIE deletions are associated with poor outcome in primary mediastinal B-cell lymphoma.
Mansouri L, Noerenberg D, Young E, ..., Rosenquist R, Damm F
pii: blood-2016-03-704528
Blood 128 (23) 2666-2670 [2016-12-08; online 2016-09-28]
Clinical Genomics Uppsala [Collaborative]
Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond.
Rosenquist R, Rosenwald A, Du MQ, ..., Stamatopoulos K, European Research Initiative on CLL (ERIC) and the European Association for Haematopathology (EAHP)
pii: haematol.2015.134510 pmc: PMC5060016
Haematologica 101 (9) 1002-1009 [2016-09-00; online 2016-09-02]
Clinical Genomics Uppsala [Collaborative]
New technologies for DNA analysis--a review of the READNA Project.
McGinn S, Bauer D, Brefort T, ..., Willcocks JP, Gut IG
pii: S1871-6784(15)00163-6
N Biotechnol 33 (3) 311-330 [2016-05-25; online 2015-10-31]
Clinical Genomics Uppsala [Collaborative]
Innovation in the prognostication of chronic lymphocytic leukemia: how far beyond TP53 gene analysis can we go?
Pospisilova S, Sutton LA, Malcikova J, ..., Ghia P, European Research Initiative on CLL (ERIC)
pii: haematol.2015.139246 pmc: PMC4815716
Haematologica 101 (3) 263-265 [2016-03-00; online 2016-03-02]
Clinical Genomics Uppsala [Service]
The protein kinase LKB1 negatively regulates bone morphogenetic protein receptor signaling.
Raja E, Tzavlaki K, Vuilleumier R, ..., Heldin CH, Moustakas A
pii: 6683 pmc: PMC4811448
Oncotarget 7 (2) 1120-1143 [2016-01-12; online 2015-12-25]
Clinical Genomics Uppsala [Collaborative]

Year 2015

Mutation in NRAS in familial Noonan syndrome--case report and review of the literature.
Ekvall S, Wilbe M, Dahlgren J, ..., Annerén G, Bondeson ML
pii: 10.1186/s12881-015-0239-1 pmc: PMC4607013
BMC Med. Genet. 16 (-) 95 [2015-10-14; online 2015-10-14]
Clinical Genomics Uppsala
Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing.
Parry M, Rose-Zerilli MJ, Ljungström V, ..., Oscier D, Strefford JC
pii: 1078-0432.CCR-14-2759 pmc: PMC4490180 mid: EMS62676
Clin. Cancer Res. 21 (18) 4174-4183 [2015-09-15; online 2015-03-18]
Clinical Genomics Uppsala
Comprehensive genomic profiles of small cell lung cancer.
George J, Lim JS, Jang SJ, ..., Sage J, Thomas RK
Nature 524 (7563) 47-53 [2015-08-06; online 2015-07-15]
Clinical Genomics Uppsala [Collaborative]