Lucia Cavelier Franco

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Articles

Article: SEMINARS IN CANCER BIOLOGY. 2022;84:242-254

Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

Stenzinger A; Edsjoe A; Ploeger C; Friedman M; Frohling S; Wirta V; Seufferlein T; Botling J; Duyster J; Akhras M; Thimme R; Fioretos T; Bitzer M; Cavelier L; Schirmacher P; Malek N; Rosenquist R
Article: LEUKEMIA & LYMPHOMA. 2022;63(10):2311-2320

Familial platelet disorder due to germline exonic deletions in RUNX1: a diagnostic challenge with distinct alterations of the transcript isoform equilibrium

Engvall M; Karlsson Y; Kuchinskaya E; Jornegren A; Mathot L; Pandzic T; Palle J; Ljungstrom V; Cavelier L; Lindberg EH; Cammenga J; Baliakas P
Article: HEMASPHERE. 2022;6(8):e761

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; Mattsson M; Hermanson M; Cavelier L; Ljungström V; Baliakas P
Article: NATURE COMMUNICATIONS. 2022;13(1):4033

Ultra-sensitive monitoring of leukemia patients using superRCA mutation detection assays.

Chen L; Eriksson A; Weström S; Pandzic T; Lehmann S; Cavelier L; Landegren U
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2022;198(1):103-113

Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy

Voso M-T; Pandzic T; Falconi G; Dencic-Fekete M; De Bellis E; Scarfo L; Ljungstrom V; Iskas M; Del Poeta G; Ranghetti P; Laidou S; Cristiano A; Plevova K; Imbergamo S; Engvall M; Zucchetto A; Salvetti C; Mauro FR; Stavroyianni N; Cavelier L; Ghia P; Stamatopoulos K; Fabiani E; Baliakas P
Article: DIAGNOSTICS. 2022;12(6):1389

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 R-M
Article: BLOOD ADVANCES. 2022;6(1):152-164

Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression

Stratmann S; Yones SA; Garbulowski M; Sun J; Skaftason A; Mayrhofer M; Norgren N; Herlin MK; Sundstrom C; Eriksson A; Hoglund M; Palle J; Abrahamsson J; Jahnukainen K; Munthe-Kaas MC; Zeller B; Tamm KP; Cavelier L; Komorowski J; Holmfeldt L
Article: CANCER INFORMATICS. 2022;21:11769351221110872-117693512211108

Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening

Schaal W; Ameur A; Olsson-Stromberg U; Hermanson M; Cavelier L; Spjuth O
Article: FRONTIERS IN MEDICINE. 2022;9:842507

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; Fogelstrand L; Abrahamsson J; Golovleva I; Hallbook H; Hoglund M; Lazarevic V; Levin L-A; Nordlund J; Noren-Nystrom U; Palle J; Thangavelu T; Palmqvist L; Wirta V; Cavelier L; Fioretos T; Rosenquist R; Clinical GPSGMS
Article: LAKARTIDNINGEN. 2021;118:20186

[Precision diagnostics and therapy in hematological malignancies].

Hellström Lindberg E; Cavelier L; Cammenga J; Andersson P-O; Fioretos T; Rosenquist R
Article: ACTA ONCOLOGICA. 2021;60(4):531-538

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; Sundstrom C; Ladenvall C; Mansouri L; Lindskog C; Berglund M; Cavelier L; Enblad G; Hollander P; Amini R-M
Article: BLOOD ADVANCES. 2021;5(4):1003-1016

Challenging conventional karyotyping by next-generation karyotyping in 281 intensively treated patients with AML

Mareschal S; Palau A; Lindberg J; Ruminy P; Nilsson C; Bengtzen S; Engvall M; Eriksson A; Neddermeyer A; Marchand V; Jansson M; Bjorklund M; Jardin F; Rantalainen M; Lennartsson A; Cavelier L; Gronberg H; Lehmann S
Article: BLOOD ADVANCES. 2021;5(3):900-912

Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets

Stratmann S; Yones SA; Mayrhofer M; Norgren N; Skaftason A; Sun J; Smolinska K; Komorowski J; Herlin MK; Sundstrom C; Eriksson A; Hoglund M; Palle J; Abrahamsson J; Jahnukainen K; Munthe-Kaas MC; Zeller B; Tamm KP; Cavelier L; Holmfeldt L
Article: BMC MEDICAL GENOMICS. 2020;13(1):106

Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics.

Engvall M; Cahill N; Jonsson B-I; Höglund M; Hallböök H; Cavelier L
Article: SCIENTIFIC REPORTS. 2020;10(1):2512

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; Raine A; Martin T; Lundmark A; Abrahamsson J; Norén-Nyström U; Lönnerholm G; Syvänen A-C
Article: AMERICAN JOURNAL OF HEMATOLOGY. 2020;95(1):57-67

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; Mansouri L; Ednersson SB; Andersson P-O; Hultdin M; Fors M; Erlanson M; Degerman S; Petersen HM; Asmar F; Gronbaek K; Enblad G; Cavelier L; Rosenquist R; Amini R-M
Article: NEURO-ONCOLOGY. 2018;20(8):1080-1091

Primary glioblastoma cells for precision medicine: a quantitative portrait of genomic (in)stability during the first 30 passages.

Baskaran S; Mayrhofer M; Kultima HG; Bergström T; Elfineh L; Cavelier L; Isaksson A; Nelander S
Article: TUMOR BIOLOGY. 2017;39(10):1010428317720643-101042831772064

Tumor SHB gene expression affects disease characteristics in human acute myeloid leukemia.

Jamalpour M; Li X; Cavelier L; Gustafsson K; Mostoslavsky G; Höglund M; Welsh M
Article: STEM CELLS AND DEVELOPMENT. 2015;24(17):2032-2040

Methods of Reprogramming to Induced Pluripotent Stem Cell Associated with Chromosomal Integrity and Delineation of a Chromosome 5q Candidate Region for Growth Advantage.

Sobol M; Raykova D; Cavelier L; Khalfallah A; Schuster J; Dahl N
Article: BMC CANCER. 2015;15:45

Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing.

Cavelier L; Ameur A; Häggqvist S; Höijer I; Cahill N; Olsson-Strömberg U; Hermanson M
Article: CLINICAL EPIGENETICS. 2015;7(1):11

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

Nordlund J; Backlin CL; Zachariadis V; Cavelier L; Dahlberg J; Ofverholm I; Barbany G; Nordgren A; Overnas E; Abrahamsson J; Flaegstad T; Heyman MM; Jonsson OG; Kanerva J; Larsson R; Palle J; Schmiegelow K; Gustafsson MG; Lonnerholm G; Forestier E; Syvanen A-C
Article: AMERICAN JOURNAL OF TRANSPLANTATION. 2014;14(12):2838-2845

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

Kinch A; Cavelier L; Bengtsson M; Baecklund E; Enblad G; Backlin C; Thunberg U; Sundström C; Pauksens K
Article: JOURNAL OF HEMATOLOGY & ONCOLOGY. 2014;7:32

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

Lundin C; Forestier E; Andersen MK; Autio K; Barbany G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B
Article: BMC BIOTECHNOLOGY. 2013;13:99

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

Zaghlool A; Ameur A; Nyberg L; Halvardson J; Grabherr M; Cavelier L; Feuk L
Article: HAEMATOLOGICA. 2013;98(9):1424-1432

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; Autio K; Barbany G; Borgstrom G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Kjeldsen E; Nordgren A; Palmqvist L; Johansson B
Article: BMC MEDICAL GENETICS. 2012;13:123

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

Hooper SD; Johansson ACV; Tellgren-Roth C; Stattin E-L; Dahl N; Cavelier L; Feuk L
Article: BMC RESEARCH NOTES. 2012;5:648

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; Rehman FL; Tellgren-Roth C; Sjöblom T; Cavelier L
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;155(2):235-243

Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols

Andersen MK; Autio K; Barbany G; Borgstroem G; Cavelier L; Golovleva I; Heim S; Heinonen K; Hovland R; Johannsson JH; Johansson B; Kjeldsen E; Nordgren A; Palmqvist L; Forestier E
Article: LEUKEMIA. 2011;25(4):622-628

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

Zachariadis V; Gauffin F; Kuchinskaya E; Heyman M; Schoumans J; Blennow E; Gustafsson B; Barbany G; Golovleva I; Ehrencrona H; Cavelier L; Palmqvist L; Lonnerholm G; Nordenskjold M; Johansson B; Forestier E; Nordgren A
Article: GENOME BIOLOGY. 2010;11(7):R78

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

Wetterbom A; Ameur A; Feuk L; Gyllensten U; Cavelier L
Article: BMC GENOMICS. 2009;10:56

Genome-wide analysis of chimpanzee genes with premature termination codons.

Wetterbom A; Gyllensten U; Cavelier L; Bergström TF
Article: JOURNAL OF MOLECULAR EVOLUTION. 2006;63(5):682-690

Comparative genomic analysis of human and chimpanzee indicates a key role for indels in primate evolution.

Wetterbom A; Sevov M; Cavelier L; Bergström TF
Article: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2006;348(3):1047-1054

Resveratrol regulates the expression of LXR-alpha in human macrophages.

Sevov M; Elfineh L; Cavelier LB
Article: MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS. 2006;596(1-2):57-63

A low dose of ethidium bromide leads to an increase of total mitochondrial DNA while higher concentrations induce the mtDNA 4997 deletion in a human neuronal cell line.

von Wurmb-Schwark N; Cavelier L; Cortopassi GA
Article: HUMAN MOLECULAR GENETICS. 2002;11(4):431-438

Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.

Wong A; Cavelier L; Collins-Schramm HE; Seldin MF; McGrogan M; Savontaus M-L; Cortopassi GA
Article: JOURNAL OF BIOLOGICAL CHEMISTRY. 2001;276(21):18046-18051

Regulation and activity of the human ABCA1 gene in transgenic mice.

Cavelier LB; Qiu Y; Bielicki JK; Afzal V; Cheng JF; Rubin EM
Article: GENOMICS. 2001;73(1):66-76

Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences.

Qiu Y; Cavelier L; Chiu S; Yang X; Rubin E; Cheng JF
Article: EXPERIMENTAL CELL RESEARCH. 2000;259(1):79-85

Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR.

Cavelier L; Johannisson A; Gyllensten U
Article: HUMAN GENETICS. 2000;107(1):45-50

MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions.

Cavelier L; Jazin E; Jalonen P; Gyllensten U
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1997;5(6):406-412

Mitochondrial sequence variants in patients with schizophrenia.

Lindholm E; Cavelier L; Howell WM; Eriksson I; Jalonen P; Adolfsson R; Blackwood DH; Muir WJ; Brookes AJ; Gyllensten U; Jazin EE
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 1996;93(22):12382-12387

Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA.

Jazin EE; Cavelier L; Eriksson I; Oreland L; Gyllensten U
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Letter: NATURE MEDICINE. 2022;28(10):1980-1982

Implementing precision medicine in a regionally organized healthcare system in Sweden

Fioretos T; Wirta V; Cavelier L; Berglund E; Friedman M; Akhras M; Botling J; Ehrencrona H; Engstrand L; Helenius G; Fagerqvist T; Gisselsson D; Gruvberger-Saal S; Gyllensten U; Heidenblad M; Hoglund K; Jacobsson B; Johansson M; Johansson A; Soller MJ; Landstrom M; Larsson P; Levin L-A; Lindstrand A; Lovmar L; Lyander A; Melin M; Nordgren A; Nordmark G; Molling P; Palmqvist L; Palmqvist R; Repsilber D; Sikora P; Stenmark B; Soderkvist P; Stranneheim H; Strid T; Wheelock CE; Wadelius M; Wedell A; Edsjo A; Rosenquist R
Review: JOURNAL OF INTERNAL MEDICINE. 2022;292(2):243-261

Application of precision medicine in clinical routine in haematology-Challenges and opportunities

Wasterlid T; Cavelier L; Haferlach C; Konopleva M; Froehling S; Ostling P; Bullinger L; Fioretos T; Smedby KE
Letter: LEUKEMIA. 2022;36(5):1436-1439

"Randomized phase II study of azacitidine ± lenalidomide in higher-risk myelodysplastic syndromes and acute myeloid leukemia with a karyotype including Del(5q)"

Rasmussen B; Gohring G; Bernard E; Nilsson L; Tobiasson M; Jadersten M; Garelius H; Dybedal I; Gronbaek K; Ejerblad E; Lorenz F; Flogegard M; Marcher CW; oster Fernstrom A; Cavelier L; Papaemmanuil E; Ebeling F; Kittang AO; Norgaard JM; Saft L; Mollgard L; Hellstrom-Lindberg E
Letter: LEUKEMIA. 2022;36(3):889-891

Loss of Y and clonal hematopoiesis in blood-two sides of the same coin?

Ljungström V; Mattisson J; Halvardson J; Pandzic T; Davies H; Rychlicka-Buniowska E; Danielsson M; Lacaze P; Cavelier L; Dumanski JP; Baliakas P; Forsberg LA
Letter: LEUKEMIA & LYMPHOMA. 2022;63(3):755-758

Limited benefit in patients with MDS receiving venetoclax and azacitidine as a bridge to allogeneic stem cell transplantation

Jadersten M; Boriskina K; Lindholm C; Westrom S; Cavelier L; Hellstrom-Lindberg E; Mielke S; Tobiasson M
Letter: AMERICAN JOURNAL OF HEMATOLOGY. 2020;95(10):E287-E289

Clonal hematopoiesis in patients with high-grade B-cell lymphoma is associated with inferior outcome.

Amini R-M; Ljungström V; Abdulla M; Cavelier L; Pandzic T; Hollander P; Enblad G; Baliakas P
Letter: LEUKEMIA & LYMPHOMA. 2019;60(13):3316-3319

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
Letter: HAEMATOLOGICA. 2016;101(1):e20-e23

PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia

Marincevic-Zuniga Y; Zachariadis V; Cavelier L; Castor A; Barbany G; Forestier E; Fogelstrand L; Heyman M; Abrahamsson J; Lonnerholm G; Nordgren A; Syvanen A-C; Nordlund J
Review: INTERNATIONAL REVIEW OF NEUROBIOLOGY. 2014;116:95-125

Splicing in the human brain.

Zaghlool A; Ameur A; Cavelier L; Feuk L

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