The genetic basis of myelodysplasia and its clinical relevance

The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment

(2013) J. Gotlib et al.   BLOOD

Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms

(2013) B. Przychodzen et al.   BLOOD

Mutations in epigenetic modifiers in the pathogenesis and therapy of acute myeloid leukemia

(2013) O. Abdel-Wahab et al.   BLOOD

The myelodysplastic syndrome as a prototypical epigenetic disease

(2013) J.-P. J. Issa   BLOOD

Clonal architecture of chronic myelomonocytic leukemias

(2013) R. Itzykson et al.   BLOOD

Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia

(2013) H. L. M. Rajala et al.   BLOOD

Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia

(2013) Dan A. Landau et al.   CELL

Reproducibility of the World Health Organization 2008 criteria for myelodysplastic syndromes

(2013) L. Senent et al.   HAEMATOLOGICA

Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome

(2013) S. A. Mian et al.   HAEMATOLOGICA

Efficacy of Ruxolitinib in Chronic Eosinophilic Leukemia Associated With a PCM1-JAK2 Fusion Gene

(2013) Elisa Rumi et al.   JOURNAL OF CLINICAL ONCOLOGY

Identification of Gene Expression–Based Prognostic Markers in the Hematopoietic Stem Cells of Patients With Myelodysplastic Syndromes

(2013) Andrea Pellagatti et al.   JOURNAL OF CLINICAL ONCOLOGY

Prognostic Score Including Gene Mutations in Chronic Myelomonocytic Leukemia

(2013) Raphaël Itzykson et al.   JOURNAL OF CLINICAL ONCOLOGY

Clonal diversity of recurrently mutated genes in myelodysplastic syndromes

(2013) M J Walter et al.   LEUKEMIA

Mutations and prognosis in primary myelofibrosis

(2013) A M Vannucchi et al.   LEUKEMIA

SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations

(2013) M Meggendorfer et al.   LEUKEMIA

Somatic SETBP1 mutations in myeloid malignancies

(2013) Hideki Makishima et al.   NATURE GENETICS

A new player SETs in myeloid malignancy

(2013) Thomas Trimarchi et al.   NATURE GENETICS

Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms

(2013) Ayana Kon et al.   NATURE GENETICS

Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Oncogenic CSF3R Mutations in Chronic Neutrophilic Leukemia and Atypical CML

(2013) Julia E. Maxson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

Mutations affecting mRNA splicing define distinct clinical phenotypes and correlate with patient outcome in myelodysplastic syndromes

(2012) F. Damm et al.   BLOOD

Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes

(2012) F. Thol et al.   BLOOD

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte et al.   BLOOD

Targeting oncogenic Ras signaling in hematologic malignancies

(2012) A. F. Ward et al.   BLOOD

Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms

(2012) M. Cazzola et al.   BLOOD

Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome

(2012) S.-J. Zhang et al.   BLOOD

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

(2012) H. Makishima et al.   BLOOD

Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML

(2012) S. Hirabayashi et al.   BLOOD

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

(2012) M. Pasquet et al.   BLOOD

Revised International Prognostic Scoring System for Myelodysplastic Syndromes

(2012) P. L. Greenberg et al.   BLOOD

Five-group cytogenetic risk classification, monosomal karyotype, and outcome after hematopoietic cell transplantation for MDS or acute leukemia evolving from MDS

(2012) H. J. Deeg et al.   BLOOD

ASXL1 Mutations Promote Myeloid Transformation through Loss of PRC2-Mediated Gene Repression

(2012) Omar Abdel-Wahab et al.   CANCER CELL

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

(2012) John S. Welch et al.   CELL

The Ancient and Evolving Roles of Cohesin in Gene Expression and DNA Repair

(2012) Dale Dorsett et al.   CURRENT BIOLOGY

Validation of a Prognostic Model and the Impact of Mutations in Patients With Lower-Risk Myelodysplastic Syndromes

(2012) Rafael Bejar et al.   JOURNAL OF CLINICAL ONCOLOGY

New Comprehensive Cytogenetic Scoring System for Primary Myelodysplastic Syndromes (MDS) and Oligoblastic Acute Myeloid Leukemia After MDS Derived From an International Database Merge

(2012) Julie Schanz et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2012) M Nikpour et al.   LEUKEMIA

Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis

(2012) Lambert Busque et al.   NATURE GENETICS

The spliceosome as a target of novel antitumour drugs

(2012) Sophie Bonnal et al.   NATURE REVIEWS DRUG DISCOVERY

SomaticSTAT3Mutations in Large Granular Lymphocytic Leukemia

(2012) Hanna L.M. Koskela et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clonal Architecture of Secondary Acute Myeloid Leukemia

(2012) Matthew J. Walter et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia

(2012) Jay P. Patel et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) L. Malcovati et al.   BLOOD

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype

(2011) V. Grossmann et al.   BLOOD

CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia

(2011) H. Makishima et al.   BLOOD

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

(2011) R. E. Dickinson et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes

(2011) M. G. Afable et al.   BLOOD

Tet2 Loss Leads to Increased Hematopoietic Stem Cell Self-Renewal and Myeloid Transformation

(2011) Kelly Moran-Crusio et al.   CANCER CELL

Familial myelodysplastic syndromes: a review of the literature

(2011) E. Liew et al.   HAEMATOLOGICA

Prognostic Significance of ASXL1 Mutations in Patients With Myelodysplastic Syndromes

(2011) Felicitas Thol et al.   JOURNAL OF CLINICAL ONCOLOGY

Coalesced Multicentric Analysis of 2,351 Patients With Myelodysplastic Syndromes Indicates an Underestimation of Poor-Risk Cytogenetics of Myelodysplastic Syndromes in the International Prognostic Scoring System

(2011) Julie Schanz et al.   JOURNAL OF CLINICAL ONCOLOGY

TP53 Mutations in Low-Risk Myelodysplastic Syndromes With del(5q) Predict Disease Progression

(2011) Martin Jädersten et al.   JOURNAL OF CLINICAL ONCOLOGY

Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic Study of 277 patients

(2011) M M Patnaik et al.   LEUKEMIA

Recurrent DNMT3A mutations in patients with myelodysplastic syndromes

(2011) M J Walter et al.   LEUKEMIA

Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias

(2011) R Itzykson et al.   LEUKEMIA

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

GATA2 mutations lead to MDS and AML

(2011) R. Katherine Hyde et al.   NATURE GENETICS

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

(2011) Timothy A Graubert et al.   NATURE GENETICS

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

(2011) Christopher N Hahn et al.   NATURE GENETICS

p53 Lesions in Leukemic Transformation

(2011) Ashot Harutyunyan et al.   NEW ENGLAND JOURNAL OF MEDICINE

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Effect of Point Mutations in Myelodysplastic Syndromes

(2011) Rafael Bejar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Classification and Prognostic Evaluation of Myelodysplastic Syndromes

(2011) Mario Cazzola et al.   SEMINARS IN ONCOLOGY

Hematopoietic stem and progenitor cell trafficking

(2011) Irina B. Mazo et al.   TRENDS IN IMMUNOLOGY

Childhood Myelodysplastic Syndrome: Focus on the Approach to Diagnosis and Treatment of Juvenile Myelomonocytic Leukemia

(2011) M. L. Loh   Hematology-American Society of Hematology Education Program

G-CSF and its receptor in myeloid malignancy

(2010) R. Beekman et al.   BLOOD

Polycomb Group Proteins: Multi-Faceted Regulators of Somatic Stem Cells and Cancer

(2010) Martin Sauvageau et al.   Cell Stem Cell

Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia

(2010) J Boultwood et al.   LEUKEMIA

Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2

(2010) Myunggon Ko et al.   NATURE

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

(2010) Gorica Nikoloski et al.   NATURE GENETICS

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

(2010) Thomas Ernst et al.   NATURE GENETICS

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Molecular and clinical features of refractory anemia with ringed sideroblasts associated with marked thrombocytosis

(2009) L. Malcovati et al.   BLOOD

Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies

(2009) L. Busque et al.   BLOOD

TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs)

(2009) O. Kosmider et al.   BLOOD

Mutations of polycomb-associated geneASXL1in myelodysplastic syndromes and chronic myelomonocytic leukaemia

(2009) Véronique Gelsi-Boyer et al.   BRITISH JOURNAL OF HAEMATOLOGY

Autoimmune mechanisms in the pathophysiology of myelodysplastic syndromes and their clinical relevance

(2009) A. J. Barrett et al.   HAEMATOLOGICA

Efficacy of azacitidine compared with that of conventional care regimens in the treatment of higher-risk myelodysplastic syndromes: a randomised, open-label, phase III study

(2009) Pierre Fenaux et al.   LANCET ONCOLOGY

Acquired mutations in TET2 are common in myelodysplastic syndromes

(2009) Saskia M C Langemeijer et al.   NATURE GENETICS

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q– syndrome

(2009) Jillian L Barlow et al.   NATURE MEDICINE

Identification of miR-145 and miR-146a as mediators of the 5q– syndrome phenotype

(2009) Daniel T Starczynowski et al.   NATURE MEDICINE

Mutation inTET2in Myeloid Cancers

(2009) François Delhommeau et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

(2009) Elaine R. Mardis et al.   NEW ENGLAND JOURNAL OF MEDICINE

Stem-cell ecology and stem cells in motion

(2008) T. Papayannopoulou et al.   BLOOD

Clinical Relevance of Bone Marrow Fibrosis and CD34-Positive Cell Clusters in Primary Myelodysplastic Syndromes

(2008) Matteo Giovanni Della Porta et al.   JOURNAL OF CLINICAL ONCOLOGY

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

(2008) Benjamin L. Ebert et al.   NATURE