Clinical Genomics Uppsala

SciLifeLab Infrastructure Unit Since 2014.

Started: 2014

Ended: Current

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]