Cavelier L

Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.

Eriksson A, Engvall M, Mathot L, ..., Ladenvall C, Baliakas P

Clin. Cancer Res. 29 (15) 2826-2834 [2023-08-01; online 2023-04-07]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Short read [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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 Long-term Support WABI [Collaborative] Bioinformatics Support for Computational Resources [Service] 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]

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]

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]

Refined detection and phasing of structural aberrations in pediatric acute lymphoblastic leukemia by linked-read whole-genome sequencing.

Nordlund J, Marincevic-Zuniga Y, Cavelier L, ..., Lönnerholm G, Syvänen AC

Sci Rep 10 (1) 2512 [2020-02-13; online 2020-02-13]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

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 Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative]

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]

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 Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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]

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 Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

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 Support for Computational Resources [Service] Clinical Genomics Uppsala [Collaborative] NGI Uppsala (SNP&SEQ Technology Platform) [Collaborative] National Genomics Infrastructure [Collaborative]

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia.

Nordlund J, Bäcklin CL, Zachariadis V, ..., Forestier E, Syvänen AC

Clin Epigenetics 7 (-) 11 [2015-02-17; online 2015-02-17]

NGI Uppsala (SNP&SEQ Technology Platform) National Genomics Infrastructure

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 Support for Computational Resources [Service] Clinical Genomics Uppsala NGI Uppsala (Uppsala Genome Center) [Service] National Genomics Infrastructure [Service]

Donor or recipient origin of posttransplant lymphoproliferative disorders following solid organ transplantation.

Kinch A, Cavelier L, Bengtsson M, ..., Sundström C, Pauksens K

Am. J. Transplant. 14 (12) 2838-2845 [2014-12-00; online 2014-10-10]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Splicing in the human brain.

Zaghlool A, Ameur A, Cavelier L, Feuk L

Int. Rev. Neurobiol. 116 (-) 95-125 [2014-08-31; online 2014-08-31]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries.

Lundin C, Forestier E, Klarskov Andersen M, ..., Swedish Cytogenetic Leukemia Study Group (SCLSG) , NOPHO Leukemia Cytogenetic Study Group (NLCSG)

J Hematol Oncol 7 (-) 32 [2014-04-11; online 2014-04-11]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues.

Zaghlool A, Ameur A, Nyberg L, ..., Cavelier L, Feuk L

BMC Biotechnol. 13 (-) 99 [2013-11-13; online 2013-11-13]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols.

Paulsson K, Forestier E, Andersen MK, ..., Swedish Cytogenetic Leukemia Study Group (SCLSG) , NOPHO Leukemia Cytogenetic Study Group (NLCSG)

Haematologica 98 (9) 1424-1432 [2013-09-00; online 2013-05-03]

NGI Stockholm (Genomics Applications) NGI Stockholm (Genomics Production) National Genomics Infrastructure

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.

Hooper SD, Johansson AC, Tellgren-Roth C, ..., Cavelier L, Feuk L

BMC Med. Genet. 13 (-) 123 [2012-12-19; online 2012-12-19]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Sequence based analysis of U-2973, a cell line established from a double-hit B-cell lymphoma with concurrent MYC and BCL2 rearrangements.

Hooper SD, Jiao X, Sundström E, ..., Sjöblom T, Cavelier L

BMC Res Notes 5 (-) 648 [2012-11-22; online 2012-11-22]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain.

Ameur A, Zaghlool A, Halvardson J, ..., Cavelier L, Feuk L

Nat. Struct. Mol. Biol. 18 (12) 1435-1440 [2011-11-06; online 2011-11-06]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.

Wetterbom A, Ameur A, Feuk L, Gyllensten U, Cavelier L

Genome Biol. 11 (7) R78 [2010-07-23; online 2010-07-23]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure