The genomic landscape of pediatric myelodysplastic syndromes

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

(2017) Federica Buonocore et al.   JOURNAL OF CLINICAL INVESTIGATION

Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome

(2017) J R Schwartz et al.   LEUKEMIA

Prognostic Mutations in Myelodysplastic Syndrome after Stem-Cell Transplantation

(2017) R. Coleman Lindsley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

(2016) Dong-Hui Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

(2016) D. A. Arber et al.   BLOOD

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

(2016) Siobán B. Keel et al.   HAEMATOLOGICA

Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants

(2016) V Pastor et al.   LEUKEMIA

The genomic landscape of core-binding factor acute myeloid leukemias

(2016) Zachary J Faber et al.   NATURE GENETICS

Dynamics of clonal evolution in myelodysplastic syndromes

(2016) Hideki Makishima et al.   NATURE GENETICS

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome and are associated with loss of chromosome 7

(2016) Satoshi Narumi et al.   NATURE GENETICS

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients

(2016) Siobán B. Keel et al.   HAEMATOLOGICA

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

(2015) M. W. Wlodarski et al.   BLOOD

RUNX1-Evi-1 fusion gene inhibited differentiation and apoptosis in myelopoiesis: an in vivo study

(2015) Lijing Shen et al.   BMC CANCER

Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations

(2015) Leandro H. Gallo et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia

(2015) Jeffery M. Klco et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Genetic predisposition to myelodysplastic syndrome and acute myeloid leukemia in children and young adults

(2015) Daria V. Babushok et al.   LEUKEMIA & LYMPHOMA

Functional analysis of a chromosomal deletion associated with myelodysplastic syndromes using isogenic human induced pluripotent stem cells

(2015) Andriana G Kotini et al.   NATURE BIOTECHNOLOGY

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy

(2015) Michael Y Zhang et al.   NATURE GENETICS

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network

(2015) Aurélie Caye et al.   NATURE GENETICS

The genomic landscape of juvenile myelomonocytic leukemia

(2015) Elliot Stieglitz et al.   NATURE GENETICS

CONSERTING: integrating copy-number analysis with structural-variation detection

(2015) Xiang Chen et al.   NATURE METHODS

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia

(2014) E. Stieglitz et al.   BLOOD

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

(2014) M. Y. Zhang et al.   HAEMATOLOGICA

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

(2014) E. Flex et al.   HUMAN MOLECULAR GENETICS

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia

(2014) Terrence N. Wong et al.   NATURE

Genomic impact of transient low-dose decitabine treatment on primary AML cells

(2013) J. M. Klco et al.   BLOOD

ANKRD26-related thrombocytopenia and myeloid malignancies

(2013) P. Noris et al.   BLOOD

Evolution and divergence of the mammalian SAMD9/SAMD9L gene family

(2013) Ana Lemos de Matos et al.   BMC EVOLUTIONARY BIOLOGY

Haploinsufficiency of SAMD9L, an Endosome Fusion Facilitator, Causes Myeloid Malignancies in Mice Mimicking Human Diseases with Monosomy 7

(2013) Akiko Nagamachi et al.   CANCER CELL

Pediatric Myelodysplastic Syndromes

(2013) Taly Glaubach et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Notch signaling in acute promyelocytic leukemia

(2013) N R Grieselhuber et al.   LEUKEMIA

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

(2013) T Haferlach et al.   LEUKEMIA

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

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

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

(2012) Michael Kirwan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

ChimeraScan: a tool for identifying chimeric transcription in sequencing data

(2011) Matthew K. Iyer et al.   BIOINFORMATICS

NUP98 gene fusions and hematopoietic malignancies: common themes and new biologic insights

(2011) S. M. Gough et al.   BLOOD

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

(2011) Timothy A Graubert et al.   NATURE GENETICS

CREST maps somatic structural variation in cancer genomes with base-pair resolution

(2011) Jianmin Wang et al.   NATURE METHODS

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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

Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome

(2009) Hiroya Asou et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Casein kinase 1α governs antigen-receptor-induced NF-κB activation and human lymphoma cell survival

(2009) Nicolas Bidère et al.   NATURE

Haematopoietic malignancies caused by dysregulation of a chromatin-binding PHD finger

(2009) Gang G. Wang et al.   NATURE

Longitudinal system-based analysis of transcriptional responses to type I interferons

(2009) D. J. Pappas et al.   PHYSIOLOGICAL GENOMICS