Clinical Genomics Uppsala

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Publications

2020 (53)

2019 (721)

2018 (645)

2017 (689)

2016 (658)

2015 (424)

2014 (376)

2013 (320)

2012 (243)

2011 (163)

2010 (139)

All (4431)


Facilities

Journals

SciLifeLab National facility since 2013.

56 publications

Year 2019

PubMed DOI Crossref
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
Gudmundsson S, Wilbe M, Filipek-Górniok B, ..., Annerén G, Bondeson ML
Sci Rep 9 (1) - [2019-12-00; online 2019-07-24]
BioImage Informatics [Collaborative] Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics Uppsala [Collaborative] Genome Engineering Zebrafish [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Angioimmunoblastic T-cell lymphoma and myelodysplastic syndrome with mutations in TET2, DNMT3 and CUX1 - azacitidine induces only lymphoma remission.
Tobiasson M, Pandzic T, Cavelier L, Sander B, Wahlin BE
Leuk. Lymphoma 60 (13) 3316-3319 [2019-12-00; online 2019-06-17]
Clinical Genomics Uppsala [Collaborative]
DOI Crossref
Cell‐of‐origin determined by both gene expression profiling and immunohistochemistry is the strongest predictor of survival in patients with diffuse large B‐cell lymphoma
Abdulla M, Hollander P, Pandzic T, ..., Rosenquist R, Amini R
Am J Hematol - (-) - [2019-11-07; online 2019-11-07]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
High-grade progression confers poor survival in pancreatic neuroendocrine tumors.
Botling J, Lamarca A, Bajic D, ..., Skogseid B, Crona J
Neuroendocrinology - (-) - [2019-10-29; online 2019-10-29]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
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]
PubMed DOI Crossref
Prognostic Impact of BRAF and KRAS Mutation in Patients with Colorectal and Appendiceal Peritoneal Metastases Scheduled for CRS and HIPEC.
Graf W, Cashin PH, Ghanipour L, ..., Terman A, Birgisson H
Ann. Surg. Oncol. - (-) - [2019-09-30; online 2019-09-30]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.
Clewemar P, Hailer NP, Hailer Y, ..., Ljunggren Ö, Stattin EL
pmc
Mol Genet Genomic Med 7 (7) e00723 [2019-07-00; online 2019-05-16]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Mutation patterns in a population-based non-small cell lung cancer cohort and prognostic impact of concomitant mutations in KRAS and TP53 or STK11
La Fleur L, Falk-Sörqvist E, Smeds P, ..., Moens L, Botling J
Lung Cancer 130 (-) 50-58 [2019-04-00; online 2019-04-00]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Drug sensitivity testing on patient-derived sarcoma cells predicts patient response to treatment and identifies c-Sarc inhibitors as active drugs for translocation sarcomas
Brodin BA, Wennerberg K, Lidbrink E, ..., Kallioniemi O, Stragliotto CL
Br J Cancer 120 (4) 435-443 [2019-02-00; online 2019-02-12]
Clinical Genomics Uppsala [Collaborative]

Year 2018

DOI Crossref
Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability
Thuresson AC, Soussi Zander C, Zhao JJ, ..., Öhrner Y, Feuk L
Clin Genet 95 (3) 436-439 [2018-12-07; online 2018-12-07]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia
Shiozawa Y, Malcovati L, Gallì A, ..., Ogawa S, Cazzola M
Nat Commun 9 (1) - [2018-12-00; online 2018-09-07]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
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
Lung Cancer 125 (-) 174-184 [2018-11-00; online 2018-09-24]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Male sex and the pattern of recurrent myeloid mutations are strong independent predictors of blood transfusion intensity in patients with myelodysplastic syndromes
Rydén J, Edgren G, Karimi M, ..., Hellström-Lindberg E, Höglund P
Leukemia - (-) - [2018-09-28; online 2018-09-28]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations
Pellagatti A, Armstrong RN, Steeples V, ..., Smith S, Boultwood J
Blood 132 (12) 1225-1240 [2018-09-20; online 2018-06-21]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature
Gudmundsson S, Annerén G, Marcos-Alcalde Í, ..., Gómez-Puertas P, Bondeson ML
European Journal of Medical Genetics - (-) - [2018-08-00; online 2018-08-00]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages.
Baskaran S, Mayrhofer M, Kultima HG, ..., Isaksson A, Nelander S
Neuro-oncology 20 (8) 1080-1091 [2018-07-05; online 2018-02-21]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
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]
PubMed DOI Crossref
Expression of scavenger receptor MARCO defines a targetable tumor-associated macrophage subset in non-small cell lung cancer.
La Fleur L, Boura VF, Alexeyenko A, ..., Karlsson MCI, Botling J
Int. J. Cancer - (-) - [2018-04-18; online 2018-04-18]
Bioinformatics Compute and Storage [Service] Bioinformatics Support and Infrastructure [Service] Bioinformatics Support, Infrastructure and Training [Service] Clinical Genomics Uppsala [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Complete Remission with Reduction of High-Risk Clones following Haploidentical NK-Cell Therapy against MDS and AML
Björklund AT, Carlsten M, Sohlberg E, ..., Ljunggren HG, Malmberg KJ
Clin. Cancer Res. 24 (8) 1834-1844 [2018-04-15; online 2018-02-14]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Megakaryocytes harbour the del(5q) abnormality despite complete clinical and cytogenetic remission induced by lenalidomide treatment
Scharenberg C, Jansson M, Saft L, Hellström-Lindberg E
Br J Haematol 180 (4) 526-533 [2018-02-00; online 2018-01-29]
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]
PubMed DOI Crossref
Transcriptome sequencing in pediatric acute lymphoblastic leukemia identifies fusion genes associated with distinct DNA methylation profiles
Marincevic-Zuniga Y, Dahlberg J, Nilsson S, ..., Nordlund J, Syvänen AC
J Hematol Oncol 10 (1) - [2017-12-00; online 2017-08-14]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
DOI Crossref
Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes
Olsson KS, Wålinder O, Jansson U, ..., Raha-Chowdhury R, Williams R
Hereditas 154 (1) - [2017-12-00; online 2017-12-19]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Integrative analysis of genome-wide gene copy number changes and gene expression in non-small cell lung cancer.
Jabs V, Edlund K, König H, ..., Hengstler JG, Micke P
pmc
PLoS ONE 12 (11) e0187246 [2017-11-07; online 2017-11-07]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
Bondeson M, Ericson K, Gudmundsson S, ..., Frykholm C, Wilbe M
Clin. Genet. 92 (5) 510-516 [2017-11-00; online 2017-05-03]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
RANK rewires energy homeostasis in lung cancer cells and drives primary lung cancer.
Rao S, Sigl V, Wimmer RA, ..., Dougall W, Penninger JM
pmc
Genes Dev. 31 (20) 2099-2112 [2017-10-15; online 2017-11-08]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
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]
PubMed DOI Crossref
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Wilbe M, Gudmundsson S, Johansson J, ..., Frykholm C, Bondeson M
Prenat. Diagn. - (-) - [2017-09-16; online 2017-09-16]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
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]
PubMed DOI Crossref
Gene Expression Profiling of Large Cell Lung Cancer Links Transcriptional Phenotypes to the New Histological WHO 2015 Classification
Karlsson A, Brunnström H, Micke P, ..., Planck M, Staaf J
Journal of Thoracic Oncology 12 (8) 1257-1267 [2017-08-00; online 2017-08-00]
Clinical Genomics Lund [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes
Unnikrishnan A, Papaemmanuil E, Beck D, ..., Campbell PJ, Pimanda JE
Cell Rep 20 (3) 572-585 [2017-07-00; online 2017-07-00]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Reaching the limits of prognostication in non-small cell lung cancer: an optimized biomarker panel fails to outperform clinical parameters.
Grinberg M, Djureinovic D, Brunnström HR, ..., Rahnenführer J, Micke P
Mod. Pathol. 30 (7) 964-977 [2017-07-00; online 2017-03-10]
Clinical Genomics Uppsala [Collaborative] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Immune Biomarkers on the Radar—Comprehensive “Immunograms” for Multimodal Treatment Prediction
Botling J, Sandelin M
Journal of Thoracic Oncology 12 (5) 770-772 [2017-05-00; online 2017-05-00]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer
Mathot L, Kundu S, Ljungström V, ..., Nilsson M, Sjöblom T
Cancer Res 77 (7) 1730-1740 [2017-04-01; online 2017-01-20]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26
Gudmundsson S, Wilbe M, Ekvall S, ..., Törmä H, Bondeson ML
Hum Mol Genet. 26 (6) 1070-1077 [2017-03-15; online 2017-02-01]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative] PLA and Single Cell Proteomics [Service]
PubMed DOI Crossref
Evaluating Variant Calling Tools for Non-Matched Next-Generation Sequencing Data.
Sandmann S, de Graaf AO, Karimi M, ..., Jansen JH, Dugas M
pmc
Sci Rep 7 (-) 43169 [2017-02-24; online 2017-02-24]
Clinical Genomics Uppsala [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The Human Adrenal Gland Proteome Defined by Transcriptomics and Antibody-Based Profiling.
Bergman J, Botling J, Fagerberg L, ..., Uhlén M, Pontén F
Endocrinology 158 (2) 239-251 [2017-02-01; online 2016-12-03]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Tissue Profiling [Technology development]

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
ATM mutations in major stereotyped subsets of chronic lymphocytic leukemia: enrichment in subset #2 is associated with markedly short telomeres.
Navrkalova V, Young E, Baliakas P, ..., Rosenquist R, Trbusek M
pmc
Haematologica 101 (9) e369-e373 [2016-09-00; online 2016-08-02]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Profiling cancer testis antigens in non-small-cell lung cancer.
Djureinovic D, Hallström BM, Horie M, ..., Uhlén M, Micke P
pmc
JCI Insight 1 (10) e86837 [2016-07-07; online 2016-07-07]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service] Tissue Profiling [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]
PubMed DOI Crossref
Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations.
Ljungström V, Cortese D, Young E, ..., Sjöblom T, Rosenquist R
pmc
Blood 127 (8) 1007-1016 [2016-02-25; online 2015-12-18]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
The protein kinase LKB1 negatively regulates bone morphogenetic protein receptor signaling.
Raja E, Tzavlaki K, Vuilleumier R, ..., Heldin CH, Moustakas A
pmc
Oncotarget 7 (2) 1120-1143 [2016-01-12; online 2015-12-25]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia.
Marincevic-Zuniga Y, Zachariadis V, Cavelier L, ..., Syvänen AC, Nordlund J
pmc
Haematologica 101 (1) e20-e23 [2016-01-00; online 2015-10-24]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

Year 2015

PubMed DOI Crossref
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Lundin KE, Hamasy A, Backe PH, ..., Stenmark S, Smith CI
pmc
Clin. Immunol. 161 (2) 366-372 [2015-12-00; online 2015-10-21]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
HaloPlex Targeted Resequencing for Mutation Detection in Clinical Formalin-Fixed, Paraffin-Embedded Tumor Samples.
Moens LN, Falk-Sörqvist E, Ljungström V, ..., Nilsson M, Botling J
J Mol Diagn 17 (6) 729-739 [2015-11-00; online 2015-09-12]
Clinical Genomics Uppsala NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure
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 [Collaborative]
PubMed DOI Crossref
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
Malcovati L, Karimi M, Papaemmanuil E, ..., Cazzola M, Hellström Lindberg E
pmc
Blood 126 (2) 233-241 [2015-07-09; online 2015-05-10]
Clinical Genomics Uppsala NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure
PubMed DOI Crossref
Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting.
Sutton LA, Ljungström V, Mansouri L, ..., Stamatopoulos K, Rosenquist R
pmc
Haematologica 100 (3) 370-376 [2015-03-00; online 2014-12-07]
Clinical Genomics Uppsala
PubMed DOI Crossref
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
Wilbe M, Ekvall S, Eurenius K, ..., Annerén G, Bondeson ML
J. Med. Genet. 52 (3) 195-202 [2015-03-00; online 2015-01-24]
Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure
PubMed DOI Crossref
Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing.
Cavelier L, Ameur A, Häggqvist S, ..., Olsson-Strömberg U, Hermanson M
pmc
BMC Cancer 15 (-) 45 [2015-02-12; online 2015-02-12]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
Software 3.2.19