The landscape of somatic mutations in Down syndrome–related myeloid disorders

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome

(2013) S. I. Nikolaev et al.   BLOOD

Integrated molecular analysis of clear-cell renal cell carcinoma

(2013) Yusuke Sato et al.   NATURE GENETICS

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

(2013) Hirotoshi Sakaguchi et al.   NATURE GENETICS

An empirical Bayesian framework for somatic mutation detection from cancer genome sequencing data

(2013) Yuichi Shiraishi et al.   NUCLEIC ACIDS RESEARCH

Diagnosis and management of acute myeloid leukemia in children and adolescents: recommendations from an international expert panel

(2012) U. Creutzig et al.   BLOOD

An Inv(16)(p13.3q24.3)-Encoded CBFA2T3-GLIS2 Fusion Protein Defines an Aggressive Subtype of Pediatric Acute Megakaryoblastic Leukemia

(2012) Tanja A. Gruber et al.   CANCER CELL

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

(2012) John S. Welch et al.   CELL

Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models

(2012) Clarisse Thiollier et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Detection ofJAK2mutations in paraffin marrow biopsies by high resolution melting analysis: identification ofL611Salone and in cis withV617Fin polycythemia vera

(2012) Roberto H. Nussenzveig et al.   LEUKEMIA & LYMPHOMA

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

(2012) Li Ding et al.   NATURE

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype

(2012) Marcella Zollino et al.   NATURE GENETICS

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia

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

DYRK1A binds to an evolutionarily conserved WD40-repeat protein WDR68 and induces its nuclear translocation

(2011) Yoshihiko Miyata et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Molecular lesions in childhood and adult acute megakaryoblastic leukaemia

(2011) Asahito Hama et al.   BRITISH JOURNAL OF HAEMATOLOGY

Frequency and prognostic implications of JAK 1-3 aberrations in Down syndrome acute lymphoblastic and myeloid leukemia

(2011) M Blink et al.   LEUKEMIA

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Acute megakaryoblastic leukemia with a four-way variant translocation originating the RBM15-MKL1 fusion gene

(2011) Lurdes Torres et al.   PEDIATRIC BLOOD & CANCER

Mutational Inactivation of STAG2 Causes Aneuploidy in Human Cancer

(2011) D. A. Solomon et al.   SCIENCE

CTCF shapes chromatin by multiple mechanisms: the impact of 20 years of CTCF research on understanding the workings of chromatin

(2010) Rolf Ohlsson et al.   CHROMOSOMA

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

(2010) Thomas Ernst et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

(2010) S. A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Cohesin: Its Roles and Mechanisms

(2009) Kim Nasmyth et al.   Annual Review of Genetics

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

CTCF: Master Weaver of the Genome

(2009) Jennifer E. Phillips et al.   CELL

How cohesin and CTCF cooperate in regulating gene expression

(2009) Kerstin S. Wendt et al.   CHROMOSOME RESEARCH

The cohesin complex is required for the DNA damage-induced G2/M checkpoint in mammalian cells

(2009) Erwan Watrin et al.   EMBO JOURNAL

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

MPLW515L mutation in acute megakaryoblastic leukaemia

(2009) K Hussein et al.   LEUKEMIA

Two Mammalian MOF Complexes Regulate Transcription Activation by Distinct Mechanisms

(2009) Xiangzhi Li et al.   MOLECULAR CELL

JAK mutations in high-risk childhood acute lymphoblastic leukemia

(2009) C. G. Mullighan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

Activating mutations in human acute megakaryoblastic leukemia

(2008) S. Malinge et al.   BLOOD

Treatment and prognostic impact of transient leukemia in neonates with Down syndrome

(2008) J.-H. Klusmann et al.   BLOOD

Risk factors for early death in neonates with Down syndrome and transient leukaemia

(2008) Hideki Muramatsu et al.   BRITISH JOURNAL OF HAEMATOLOGY

Cohesins Functionally Associate with CTCF on Mammalian Chromosome Arms

(2008) Vania Parelho et al.   CELL

Cohesins localize with CTCF at the KSHV latency control region and at cellular c-myc and H19/Igf2 insulators

(2008) William Stedman et al.   EMBO JOURNAL

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

(2008) Dani Bercovich et al.   LANCET

Cohesin mediates transcriptional insulation by CCCTC-binding factor

(2008) Kerstin S. Wendt et al.   NATURE

CTCF physically links cohesin to chromatin

(2008) E. D. Rubio et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA