Clinical Genomics Uppsala

SciLifeLab Infrastructure Unit Since 2014.

Primary: Shown in the list of current labels, if end date is not specified.

Started: 2014

Ended: Current

Year 2022

Year 2021

Year 2020

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 Uppsala [Service]

Year 2019

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

Year 2018

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

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
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)
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
N Biotechnol 33 (3) 311-330 [2016-05-25; online 2015-10-26]
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)
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
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
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
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]

Publications 7.1.2