Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML

(2011) Daniel C. Link   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene

(2011) John S. Welch   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Recurrent DNMT3A mutations in patients with myelodysplastic syndromes

(2011) M J Walter et al.   LEUKEMIA

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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

AG-dependent 3′-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon

(2011) Yuan Fu et al.   NUCLEIC ACIDS RESEARCH

Alternative pre-mRNA splicing regulation in cancer: pathways and programs unhinged

(2010) C. J. David et al.   GENES & DEVELOPMENT

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Allele-specific recognition of the 3′ splice site of INS intron 1

(2010) Jana Kralovicova et al.   HUMAN GENETICS

POU4F1 is associated with t(8;21) acute myeloid leukemia and contributes directly to its unique transcriptional signature

(2010) J M Fortier et al.   LEUKEMIA

Genome remodelling in a basal-like breast cancer metastasis and xenograft

(2010) Li Ding et al.   NATURE

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes

(2010) Gorica Nikoloski et al.   NATURE GENETICS

Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders

(2010) Thomas Ernst et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

DNMT3AMutations in Acute Myeloid Leukemia

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

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

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

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Acquired mutations in TET2 are common in myelodysplastic syndromes

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

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

(2009) Ken Chen et al.   NATURE METHODS

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

Integrated Genomic Analysis Implicates Haploinsufficiency of Multiple Chromosome 5q31.2 Genes in De Novo Myelodysplastic Syndromes Pathogenesis

(2009) Timothy A. Graubert et al.   PLoS One

The emerging role of splicing factors in cancer

(2008) Ana Rita Grosso et al.   EMBO REPORTS

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

(2008) Benjamin L. Ebert et al.   NATURE

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome

(2008) Timothy J. Ley et al.   NATURE

Genome-Wide Survey and Expression Profiling of CCCH-Zinc Finger Family Reveals a Functional Module in Macrophage Activation

(2008) Jian Liang et al.   PLoS One