Clinical Genomics Uppsala

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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

PubMed DOI Crossref
Next-Generation Sequencing Analysis of CpG Methylation of a Tumor Suppressor Gene SHP-1 Promoter in Stable Cell Lines and HCV-Positive Patients.
Devi P, Engdahl K, Punga T, Bergqvist A
Viruses 14 (11) - [2022-10-26; online 2022-10-26]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
SARS-CoV-2 variants of concern and spike protein mutational dynamics in a Swedish cohort during 2021, studied by Nanopore sequencing.
Mannsverk S, Bergholm J, Palanisamy N, ..., Lindh J, Lennerstrand J
Virol J 19 (1) 164 [2022-10-18; online 2022-10-18]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Implementing precision medicine in a regionally organized healthcare system in Sweden
Fioretos T, Wirta V, Cavelier L, ..., Edsjö A, Rosenquist R
Nat Med 28 (10) 1980-1982 [2022-10-00; online 2022-09-19]
Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Linköping [Service] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting.
Pandzic T, Ladenvall C, Engvall M, ..., Ljungström V, Baliakas P
Hemasphere 6 (8) e761 [2022-08-00; online 2022-08-02]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays.
Chen L, Eriksson A, Weström S, ..., Cavelier L, Landegren U
Nat Commun 13 (1) 4033 [2022-07-12; online 2022-07-12]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy.
Voso MT, Pandzic T, Falconi G, ..., Fabiani E, Baliakas P
Br. J. Haematol. 198 (1) 103-113 [2022-07-00; online 2022-03-11]
Clinical Genomics Uppsala [Service]
DOI Crossref
Molecular International Prognostic Scoring System for Myelodysplastic Syndromes
Bernard E, Tuechler H, Greenberg PL, ..., Hellström-Lindberg E, Papaemmanuil E
NEJM Evidence 1 (7) - [2022-06-28; online 2022-06-28]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
LymphoTrack Is Equally Sensitive as PCR GeneScan and Sanger Sequencing for Detection of Clonal Rearrangements in ALL Patients.
Paulsen K, Marincevic M, Cavelier L, Hollander P, Amini RM
Diagnostics 12 (6) - [2022-06-04; online 2022-06-04]
Clinical Genomics Uppsala [Technology development]
PubMed DOI Crossref
Secondary resistance to idelalisib is characterized by upregulation of IGF1R rather than by MAPK/ERK pathway mutations.
Tausch E, Ljungström V, Agathangelidis A, ..., Rosenquist R, Stilgenbauer S
Blood 139 (22) 3340-3344 [2022-06-02; online 2022-04-05]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J, Frykholm C, Ericson K, ..., Bondeson ML, Wilbe M
Am. J. Med. Genet. A 188 (6) 1676-1687 [2022-06-00; online 2022-02-15]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]
PubMed DOI Crossref
A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias.
Berglund E, Barbany G, Orsmark-Pietras C, ..., Fioretos T, Rosenquist R
Front Med (Lausanne) 9 (-) 842507 [2022-03-24; online 2022-03-24]
Clinical Genomics Gothenburg [Collaborative] Clinical Genomics Umeå [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?
Ljungström V, Mattisson J, Halvardson J, ..., Baliakas P, Forsberg LA
Leukemia 36 (3) 889-891 [2022-03-00; online 2021-11-01]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Service] NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
In-Flight Transmission of a SARS-CoV-2 Lineage B.1.617.2 Harbouring the Rare S:E484Q Immune Escape Mutation.
Martinell M, Andersson T, Mannsverk SS, ..., Lindh J, Kaden R
Viruses 14 (3) - [2022-02-28; online 2022-02-28]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression.
Stratmann S, Yones SA, Garbulowski M, ..., Komorowski J, Holmfeldt L
Blood Adv 6 (1) 152-164 [2022-01-11; online 2021-10-08]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics Uppsala [Service] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Transcriptome sequencing of archived lymphoma specimens is feasible and clinically relevant using exome capture technology.
Skaftason A, Qu Y, Abdulla M, ..., Rosenquist R, Mansouri L
Genes Chromosomes Cancer 61 (1) 27-36 [2022-01-00; online 2021-10-23]
Clinical Genomics Uppsala [Service] NGI Short read [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]

Year 2021

PubMed DOI Crossref
Limited benefit in patients with MDS receiving venetoclax and azacitidine as a bridge to allogeneic stem cell transplantation.
Jädersten M, Boriskina K, Lindholm C, ..., Mielke S, Tobiasson M
Leuk. Lymphoma - (-) 1-4 [2021-11-15; online 2021-11-15]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Allogeneic Hematopoietic Stem Cell Transplantation for Chronic Myelomonocytic Leukemia: Clinical and Molecular Genetic Prognostic Factors in a Nordic Population.
Wedge E, Hansen JW, Dybedal I, ..., Ljungman P, Friis LS
Transplant Cell Ther - (-) - [2021-09-06; online 2021-09-06]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Co-mutation pattern, clonal hierarchy, and clone size concur to determine disease phenotype of SRSF2P95-mutated neoplasms.
Todisco G, Creignou M, Gallì A, ..., Cazzola M, Malcovati L
Leukemia 35 (8) 2371-2381 [2021-08-00; online 2020-12-21]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.
Stenzinger A, Edsjö A, Ploeger C, ..., Rosenquist R, GMS working groups and ZPM working groups
Semin. Cancer Biol. - (-) - [2021-05-24; online 2021-05-24]
Clinical Genomics Lund [Service] Clinical Genomics Stockholm [Collaborative] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
PD-L1 and IDO1 are potential targets for treatment in patients with primary diffuse large B-cell lymphoma of the CNS.
Abdulla M, Alexsson A, Sundström C, ..., Hollander P, Amini RM
Acta Oncol 60 (4) 531-538 [2021-04-00; online 2021-02-12]
Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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, ..., Stamatopoulos K, Rosenquist R
Haematologica 106 (3) 682-691 [2021-03-01; online 2021-03-01]
Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML.
Mareschal S, Palau A, Lindberg J, ..., Grönberg H, Lehmann S
Blood Adv 5 (4) 1003-1016 [2021-02-23; online 2021-02-17]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets.
Stratmann S, Yones SA, Mayrhofer M, ..., Cavelier L, Holmfeldt L
Blood Adv 5 (3) 900-912 [2021-02-09; online 2021-02-10]
Bioinformatics Compute and Storage [Service] Bioinformatics Long-term Support WABI [Collaborative] Bioinformatics Support, Infrastructure and Training [Collaborative] Clinical Genomics Uppsala [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Thuresson AC, Croft B, Hailer YD, ..., Harley VR, Stattin EL
Clin. Genet. 99 (2) 325-329 [2021-02-00; online 2020-11-12]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Evaluation of NTRK immunohistochemistry as a screening method for NTRK gene fusion detection in non-small cell lung cancer.
Elfving H, Broström E, Moens LNJ, ..., Botling J, Micke P
Lung Cancer 151 (-) 53-59 [2021-01-00; online 2020-11-27]
Clinical Genomics Uppsala [Collaborative]

Year 2020

PubMed DOI Crossref
Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity.
Höijer I, Johansson J, Gudmundsson S, ..., Gyllensten U, Ameur A
Genome Biol. 21 (1) 290 [2020-12-01; online 2020-12-01]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
Identification and rescue of a tRNA wobble inosine deficiency causing intellectual disability disorder.
Ramos J, Proven M, Halvardson J, ..., Thuresson AC, Fu D
RNA 26 (11) 1654-1666 [2020-11-00; online 2020-08-06]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]
PubMed DOI Crossref
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
Nat. Med. 26 (10) 1549-1556 [2020-10-00; online 2020-08-03]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, ..., Ding L, PCAWG Consortium
Nat Commun 11 (1) 4748 [2020-09-21; online 2020-09-21]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Sex differences in oncogenic mutational processes.
Li CH, Prokopec SD, Sun RX, ..., Boutros PC, PCAWG Consortium
Nat Commun 11 (1) 4330 [2020-08-28; online 2020-08-28]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.
Engvall M, Cahill N, Jonsson BI, ..., Hallböök H, Cavelier L
BMC Med Genomics 13 (1) 106 [2020-07-29; online 2020-07-29]
Clinical Genomics Uppsala [Technology development]
PubMed DOI Crossref
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]
PubMed DOI Crossref
Clonal hematopoiesis in patients with high-grade B-cell lymphoma is associated with inferior outcome.
Amini RM, Ljungström V, Abdulla M, ..., Enblad G, Baliakas P
Am. J. Hematol. 95 (10) - [2020-07-06; online 2020-07-06]
Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
An immune gene expression signature distinguishes central nervous system metastases from primary tumours in non-small-cell lung cancer.
Tsakonas G, Lewensohn R, Botling J, ..., Hydbring P, Ekman S
Eur. J. Cancer 132 (-) 24-34 [2020-06-00; online 2020-04-20]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed DOI Crossref
A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg I, Nowinski D, Bondeson ML, ..., Kölby L, Stattin EL
BMC Med. Genet. 21 (1) 90 [2020-05-05; online 2020-05-05]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed 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 RM
Am. J. Hematol. 95 (1) 57-67 [2020-01-00; online 2019-11-07]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]

Year 2019

PubMed DOI Crossref
Arteria: An automation system for a sequencing core facility.
Dahlberg J, Hermansson J, Sturlaugsson S, ..., Hofmann O, Larsson P
Gigascience 8 (12) - [2019-12-01; online 2019-12-12]
Clinical Genomics Uppsala [Technology development] NGI Uppsala (SNP&SEQ Technology Platform) [Technology development] National Genomics Infrastructure [Technology development]
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]
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
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 M
Sci Rep 9 (1) 10730 [2019-07-24; 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
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
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]
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
Eur J Med Genet 62 (6) 103526 [2019-06-00; online 2018-08-17]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative]
PubMed 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 2019-01-09]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed 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 [2019-03-00; online 2018-12-07]
Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]
PubMed 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

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
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

PubMed 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) 16 [2017-12-19; online 2017-12-19]
Clinical Genomics Uppsala [Collaborative]
PubMed 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
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
PLoS ONE 12 (11) e0187246 [2017-11-07; online 2017-11-07]
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 ML
Prenat. Diagn. 37 (11) 1146-1154 [2017-11-00; online 2017-10-17]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (Uppsala Genome Center) [Technology development] National Genomics Infrastructure [Technology development]
PubMed DOI Crossref
A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.
Bondeson ML, 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
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
The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.
Yip BH, Steeples V, Repapi E, ..., Pellagatti A, Boultwood J
J. Clin. Invest. 127 (9) 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
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) 148 [2017-08-14; online 2017-08-14]
Bioinformatics Compute and Storage [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [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
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
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
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 2017-02-06]
Affinity Proteomics Uppsala [Collaborative] 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
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 2016-09-26]
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)
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
Haematologica 101 (9) e369-e373 [2016-09-00; online 2016-08-02]
Clinical Genomics Uppsala [Service]
PubMed DOI Crossref
Inconsistent results in the analysis of ALK rearrangements in non-small cell lung cancer.
Mattsson JS, Brunnström H, Jabs V, ..., Micke P, Svensson MA
BMC Cancer 16 (-) 603 [2016-08-05; online 2016-08-05]
Clinical Genomics Uppsala [Service] Tissue Profiling [Collaborative]
PubMed DOI Crossref
Profiling cancer testis antigens in non-small-cell lung cancer.
Djureinovic D, Hallström BM, Horie M, ..., Uhlén M, Micke P
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 2015-10-26]
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)
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
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
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
Haematologica 101 (1) e20-e23 [2016-01-00; online 2015-10-22]
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
Clin. Immunol. 161 (2) 366-372 [2015-12-00; online 2015-10-19]
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 2015-09-03]
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
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
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
Nature 524 (7563) 47-53 [2015-08-06; online 2015-07-13]
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
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
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 2015-01-22]
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
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]
SciLifeLab Data Centre
Publications 9.5.0