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List of works by Elli Papaemmanuil

11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood

scientific article published on 22 April 2020

72 PERSONALIZED TREATMENT APPROACH FOR GFI136N HETEROZYGOUS OR HOMOZYGOUS MDS PATIENTS

scholarly article by B. Lacramioara et al published April 2015 in Leukemia Research

<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing

scientific article published on 14 July 2021

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

article

A recurrent novel fusion identifies a new subtype of high-grade spindle cell sarcoma

article

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation in SF3B1 mutated refractory anaemia with ring sideroblasts

scientific article published on 10 August 2015

Abnormal oxidative metabolism in a quiet genomic background underlies clear cell papillary renal cell carcinoma

scientific article published on 01 April 2019

Abstract B022: Subclonal somatic copy number alterations emerge and dominate in relapsed/refractory osteosarcoma

scientific article published in 2022

Accelerated single cell seeding in relapsed multiple myeloma

scientific article published on 17 July 2020

Acquired resistance to IDH inhibition through trans or cis dimer-interface mutations

scientific article published in Nature

Analysis of a large multi-generational family provides insight into the genetics of chronic lymphocytic leukemia

article

Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups

scientific article published on 6 December 2017

Analysis of the genomic landscape of multiple myeloma highlights novel prognostic markers and disease subgroups.

scientific article published on 22 May 2018

Association of a germline copy number polymorphism of APOBEC3A and APOBEC3B with burden of putative APOBEC-dependent mutations in breast cancer

scientific article

Author Correction: The evolutionary history of lethal metastatic prostate cancer

scientific article published on 29 July 2020

Baseline VDJ clonotype detection using a targeted sequencing NGS assay: allowing for subsequent MRD assessment

scientific article published on 22 July 2020

Baseline identification of clonal V(D)J sequences for DNA-based minimal residual disease detection in multiple myeloma

scientific article published in 2019

Baseline mutational patterns and sustained MRD negativity in patients with high-risk smoldering myeloma

article

Cancer therapy shapes the fitness landscape of clonal hematopoiesis

scientific article published on 26 October 2020

Characterisation of the genomic landscape of CRLF2-rearranged acute lymphoblastic leukemia

scientific article

Characterization of gene mutations and copy number changes in acute myeloid leukemia using a rapid target enrichment protocol

scientific article published on 7 November 2014

Classification and Personalized Prognosis in Myeloproliferative Neoplasms

article

Classification and risk assessment in AML: integrating cytogenetics and molecular profiling.

scientific article published in December 2017

Clinical Effects of Driver Somatic Mutations on the Outcomes of Patients With Myelodysplastic Syndromes Treated With Allogeneic Hematopoietic Stem-Cell Transplantation.

scientific article published on 06 September 2016

Clinical and biological implications of driver mutations in myelodysplastic syndromes

scientific article published on 12 September 2013

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

scientific article

Clinical significance of somatic mutation in unexplained blood cytopenia

scientific article

Clonal hematopoiesis is associated with risk of severe Covid-19

scientific article published on 27 November 2020

Cohesin-dependent regulation of gene expression during differentiation is lost in cohesin-mutated myeloid malignancies

scientific article published on 01 December 2019

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

scientific article published on 16 December 2007

Comprehensive detection of recurring genomic abnormalities: a targeted sequencing approach for multiple myeloma

scientific article published on 11 December 2019

Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia

scientific article

Contrasting requirements during disease evolution identify EZH2 as a therapeutic target in AML

scientific article published on 19 March 2019

Correction: Comprehensive detection of recurring genomic abnormalities: a targeted sequencing approach for multiple myeloma

scientific article published on 30 January 2020

Corrigendum: Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

scientific article published on May 2016

Direct Transcriptional Consequences of Somatic Mutation in Breast Cancer

scientific article published on 03 August 2016

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

scientific article published on 27 November 2014

Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

scientific article published in August 2015

Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia

scientific article

Effect of mutation order on myeloproliferative neoplasms

scientific article

Enasidenib induces acute myeloid leukemia cell differentiation to promote clinical response

scientific article published on 06 June 2017

Epigenetic therapy of myelodysplastic syndromes connects to cellular differentiation independently of endogenous retroelement derepression

scientific article published on 23 December 2019

Erratum: Corrigendum: Signatures of mutational processes in human cancer

scientific article published in Nature

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan

article

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan

article

Ezh2 and Runx1 Mutations Collaborate to Initiate Lympho-Myeloid Leukemia in Early Thymic Progenitors

scientific article published in February 2018

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers

scientific article published on 18 May 2022

Frequent somatic transfer of mitochondrial DNA into the nuclear genome of human cancer cells

scientific article published on 11 May 2015

GFI1(36N) as a therapeutic and prognostic marker for myelodysplastic syndrome

scientific article published on 11 April 2016

Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk

Genomic Classification and Prognosis in Acute Myeloid Leukemia

scientific article

Genomic Classification in Acute Myeloid Leukemia

scientific article published on 01 September 2016

Genomic landscape and evolution of metastatic chromophobe renal cell carcinoma

scientific article

Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays

scientific article published on 04 June 2018

Impact of socioeconomic status on disease phenotype, genomic landscape and outcomes in myelodysplastic syndromes

scientific article

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations

article

Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes

scientific article published on 03 August 2020

Inactivating CUX1 mutations promote tumorigenesis

scientific article

Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1.

scientific article published on 8 January 2013

Integrated DNA/RNA targeted genomic profiling of diffuse large B-cell lymphoma using a clinical assay.

scientific article published on 12 June 2018

Integrative Genomics Identifies the Molecular Basis of Resistance to Azacitidine Therapy in Myelodysplastic Syndromes

scientific article

Interplay between chromosomal alterations and gene mutations shapes the evolutionary trajectory of clonal hematopoiesis

scientific article

Isabl Platform, a digital biobank for processing multimodal patient data

scientific article published on 30 November 2020

Isoform switching as a mechanism of acquired resistance to mutant isocitrate dehydrogenase inhibition

article

Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia

scientific article

MHC variation and risk of childhood B-cell precursor acute lymphoblastic leukemia

Managing Clonal Hematopoiesis in Patients With Solid Tumors

scientific article published on 07 November 2018

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome

scientific article published on 01 September 2019

Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome

scientific article published on 11 July 2019

Mechanisms of clonal evolution in childhood acute lymphoblastic leukemia

scientific article published on 18 May 2015

Mobile DNA in cancer. Extensive transduction of nonrepetitive DNA mediated by L1 retrotransposition in cancer genomes

scientific article

Modulation of IL-6/STAT3 signaling axis in CD4+FOXP3- T cells represents a potential antitumor mechanism of azacitidine

scientific article published on 01 January 2021

Molecular underpinnings of clinical disparity patterns in African American vs. Caucasian American multiple myeloma patients

scholarly article by Dickran Kazandjian et al published 4 February 2019 in Blood Cancer Journal

Multifaceted modes of action of azacytidine: a riddle wrapped up in an enigma

scientific article published on 12 June 2019

Mutational processes molding the genomes of 21 breast cancers

scientific article

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo

Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo

scientific article published on 15 May 2014

National study of colorectal cancer genetics

scientific article published on 25 September 2007

Nongenetic stochastic expansion of JAK2V617F-homozygous subclones in polycythemia vera?

scientific article published in November 2014

Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer

scientific article

Patient-Driven Discovery, Therapeutic Targeting, and Post-Clinical Validation of a Novel AKT1 Fusion-Driven Cancer

scientific article published on 15 March 2019

Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs

scientific article published on 01 May 2022

Pegylated interferon alfa-2a for polycythemia vera or essential thrombocythemia resistant or intolerant to hydroxyurea

scientific article published on 01 October 2019

Perturbed hematopoietic stem and progenitor cell hierarchy in myelodysplastic syndromes patients with monosomy 7 as the sole cytogenetic abnormality

scientific article published on 24 September 2016

Prediction of acute myeloid leukaemia risk in healthy individuals

scientific article published in Nature

Processed pseudogenes acquired somatically during cancer development

scientific article published on 09 April 2014

RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia

scientific article

RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features

scientific article

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

scientific article published on 01 March 2020

Recurrent ETNK1 mutations in atypical chronic myeloid leukemia

scientific article published on 24 October 2014

Recurrent PTPRB and PLCG1 mutations in angiosarcoma

scientific article

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia

scientific article

Revealing the impact of structural variants in multiple myeloma

scientific article published on 15 September 2020

Role of AID in the temporal pattern of acquisition of driver mutations in multiple myeloma

scientific article published on 13 December 2019

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

scientific article published on 8 May 2015

SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells

scientific article published on 20 June 2017

SF3B1-mutant myelodysplastic syndrome as a distinct disease subtype - A Proposal of the International Working Group for the Prognosis of Myelodysplastic Syndromes (IWG-PM)

scientific article published on 29 April 2020

Signatures of mutational processes in human cancer

scientific article (publication date: 22 August 2013)

Single cell analysis of clonal architecture in acute myeloid leukaemia

scientific article published on 19 December 2018

Single cell dissection of plasma cell heterogeneity in symptomatic and asymptomatic myeloma

scientific article published on 06 December 2018

Single-cell mutational profiling and clonal phylogeny in cancer

scientific article published on 20 September 2013

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts

scientific article

Stability and uniqueness of clonal immunoglobulin CDR3 sequences for MRD tracking in multiple myeloma

scientific article published on 21 October 2019

Stage-Specific Human Induced Pluripotent Stem Cells Map the Progression of Myeloid Transformation to Transplantable Leukemia

scientific article published on 13 February 2017

Subclonal variant calling with multiple samples and prior knowledge

scientific article

Successful Targeted Therapy of Refractory Pediatric Fusion-Positive Secretory Breast Carcinoma

scientific article published on 18 August 2017

TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups

scientific article published on 11 January 2019

The Clinical Management of Clonal Hematopoiesis: Creation of a Clonal Hematopoiesis Clinic

scientific article published on 18 January 2020

The Life History of 21 Breast Cancers

The clinical implications of clonal hematopoiesis in hematopoietic cell transplantation

scientific article published on 24 August 2020

The evolutionary history of lethal metastatic prostate cancer

scientific article published on April 2015

The landscape of cancer genes and mutational processes in breast cancer

scientific article (publication date: 16 May 2012)

The life history of 21 breast cancers

scientific article (publication date: 25 May 2012)

The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts

scientific article published on 16 October 2012

Timing the initiation of multiple myeloma

scientific article published on 21 April 2020

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

scientific article

Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood

scientific article

Whole exome sequencing of adenoid cystic carcinoma

scientific article published on 17 June 2013

and mutations are enriched in distinct subgroups of mixed phenotype acute leukemia with T-lineage differentiation

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