Modulation of splicing catalysis for therapeutic targeting of leukemia with mutations in genes encoding spliceosomal proteins

Interchangeable SF3B1 inhibitors interfere with pre-mRNA splicing at multiple stages

(2016) Kerstin A. Effenberger et al.   RNA

Quantitative visualization of alternative exon expression from RNA-seq data

(2015) Yarden Katz et al.   BIOINFORMATICS

SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition

(2015) Eunhee Kim et al.   CANCER CELL

Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo

(2015) Cara Lunn Shirai et al.   CANCER CELL

Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT)

(2015) Donavan T. Cheng et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

The transcriptomic landscape and directed chemical interrogation of MLL-rearranged acute myeloid leukemias

(2015) Vincent-Philippe Lavallée et al.   NATURE GENETICS

Clonal Hematopoiesis and Blood-Cancer Risk

(2015)   NEW ENGLAND JOURNAL OF MEDICINE

Disease-associated mutation inSRSF2misregulates splicing by altering RNA-binding affinities

(2015) Jian Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Acute myeloid leukemia ontogeny is defined by distinct somatic mutations

(2014) R. C. Lindsley et al.   BLOOD

U2AF1mutations alter splice site recognition in hematological malignancies

(2014) Janine O. Ilagan et al.   GENOME RESEARCH

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Phase I Pharmacokinetic and Pharmacodynamic Study of the First-in-Class Spliceosome Inhibitor E7107 in Patients with Advanced Solid Tumors

(2013) F. A. L. M. Eskens et al.   CLINICAL CANCER RESEARCH

Genome-wide RNAi screens in human brain tumor isolates reveal a novel viability requirement for PHF5A

(2013) C. G. Hubert et al.   GENES & DEVELOPMENT

A phase I, open-label, single-arm, dose-escalation study of E7107, a precursor messenger ribonucleic acid (pre-mRNA) splicesome inhibitor administered intravenously on days 1 and 8 every 21 days to patients with solid tumors

(2013) D. S. Hong et al.   INVESTIGATIONAL NEW DRUGS

Mutations and prognosis in primary myelofibrosis

(2013) A M Vannucchi et al.   LEUKEMIA

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

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

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

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

The spliceosome as a target of novel antitumour drugs

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

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome

(2011) Bo Li et al.   BMC BIOINFORMATICS

Selective Killing of Mixed Lineage Leukemia Cells by a Potent Small-Molecule DOT1L Inhibitor

(2011) Scott R. Daigle et al.   CANCER CELL

MLL-Rearranged Leukemia Is Dependent on Aberrant H3K79 Methylation by DOT1L

(2011) Kathrin M. Bernt et al.   CANCER CELL

Biological validation that SF3b is a target of the antitumor macrolide pladienolide

(2011) Akira Yokoi et al.   FEBS Journal

The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region

(2011) E. G. Folco et al.   GENES & DEVELOPMENT

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

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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

BioMart Central Portal: an open database network for the biological community

(2011) J. M. Guberman et al.   Database-The Journal of Biological Databases and Curation

Bayesian hypothesis testing for psychologists: A tutorial on the Savage–Dickey method

(2010) Eric-Jan Wagenmakers et al.   COGNITIVE PSYCHOLOGY

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

Gene ontology analysis for RNA-seq: accounting for selection bias

(2010) Matthew D Young et al.   GENOME BIOLOGY

A scaling normalization method for differential expression analysis of RNA-seq data

(2010) Mark D Robinson et al.   GENOME BIOLOGY

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

(2009) Ben Langmead et al.   GENOME BIOLOGY