Clinical Genomics Uppsala

SciLifeLab National facility since 2013.

34 publications

Year 2018

PubMed DOI Crossref
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

DOI Crossref
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]
DOI Crossref
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]
PubMed DOI Crossref
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

PubMed DOI Crossref
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]
PubMed DOI Crossref
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)
pmc
Haematologica 101 (9) 1002-1009 [2016-09-00; online 2016-09-02]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
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 2015-10-31]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
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)
pmc
Haematologica 101 (3) 263-265 [2016-03-00; online 2016-03-02]
Clinical Genomics Uppsala [Service]

Year 2015

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