Published in N Engl J Med on December 12, 2011
Molecular Disease Profile of Hematological Malignancies (RELab1) | NCT02459743
Comprehensive molecular portraits of human breast tumours. Nature (2012) 47.39
Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature (2013) 20.16
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol (2013) 16.13
Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell (2013) 9.24
Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature (2012) 8.03
Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature (2012) 5.23
Resistance mechanisms for the Bruton's tyrosine kinase inhibitor ibrutinib. N Engl J Med (2014) 4.98
Dissecting the genomic complexity underlying medulloblastoma. Nature (2012) 4.77
The genetic landscape of high-risk neuroblastoma. Nat Genet (2013) 4.71
Somatic STAT3 mutations in large granular lymphocytic leukemia. N Engl J Med (2012) 4.15
Three-year follow-up of treatment-naïve and previously treated patients with CLL and SLL receiving single-agent ibrutinib. Blood (2015) 3.47
The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood (2016) 3.21
Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia. Nat Genet (2012) 3.08
Functional impact bias reveals cancer drivers. Nucleic Acids Res (2012) 2.96
Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood (2012) 2.88
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. Nat Genet (2013) 2.62
Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia. Blood (2012) 2.58
The spliceosome as a target of novel antitumour drugs. Nat Rev Drug Discov (2012) 2.51
Emerging patterns of somatic mutations in cancer. Nat Rev Genet (2013) 2.50
Targeting B cell receptor signaling with ibrutinib in diffuse large B cell lymphoma. Nat Med (2015) 2.42
Targeting pathological B cell receptor signalling in lymphoid malignancies. Nat Rev Drug Discov (2013) 2.31
Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet (2013) 2.20
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. Blood (2013) 2.18
IntOGen-mutations identifies cancer drivers across tumor types. Nat Methods (2013) 2.10
Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet (2012) 2.07
Bruton's tyrosine kinase (BTK) function is important to the development and expansion of chronic lymphocytic leukemia (CLL). Blood (2013) 2.03
The spectrum of SWI/SNF mutations, ubiquitous in human cancers. PLoS One (2013) 2.00
Fludarabine, cyclophosphamide, and rituximab treatment achieves long-term disease-free survival in IGHV-mutated chronic lymphocytic leukemia. Blood (2015) 1.95
Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia. Blood (2014) 1.92
The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med (2012) 1.90
Somatic rearrangements across cancer reveal classes of samples with distinct patterns of DNA breakage and rearrangement-induced hypermutability. Genome Res (2012) 1.82
Recurrent mutations refine prognosis in chronic lymphocytic leukemia. Leukemia (2014) 1.81
An integrative analysis of colon cancer identifies an essential function for PRPF6 in tumor growth. Genes Dev (2014) 1.73
Discovery and characterization of artifactual mutations in deep coverage targeted capture sequencing data due to oxidative DNA damage during sample preparation. Nucleic Acids Res (2013) 1.70
Protein kinase c-β-dependent activation of NF-κB in stromal cells is indispensable for the survival of chronic lymphocytic leukemia B cells in vivo. Cancer Cell (2013) 1.68
SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov (2013) 1.68
SF3B1 mutations correlated to cytogenetics and mutations in NOTCH1, FBXW7, MYD88, XPO1 and TP53 in 1160 untreated CLL patients. Leukemia (2013) 1.66
Molecular pathogenesis of chronic lymphocytic leukemia. J Clin Invest (2012) 1.64
Whole-exome sequencing in relapsing chronic lymphocytic leukemia: clinical impact of recurrent RPS15 mutations. Blood (2015) 1.56
Somatic mutation as a mechanism of Wnt/β-catenin pathway activation in CLL. Blood (2014) 1.55
Cancer genome-sequencing study design. Nat Rev Genet (2013) 1.55
The double-edged sword of Notch signaling in cancer. Semin Cell Dev Biol (2012) 1.53
Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia. Genome Res (2013) 1.51
SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition. Cancer Cell (2015) 1.51
Clonal evolution in hematological malignancies and therapeutic implications. Leukemia (2013) 1.50
Comprehensive analysis of cancer-associated somatic mutations in class I HLA genes. Nat Biotechnol (2015) 1.47
Targeting the B cell receptor pathway in chronic lymphocytic leukemia. Leuk Lymphoma (2012) 1.43
From human genome to cancer genome: the first decade. Genome Res (2013) 1.42
RNA Splicing Modulation Selectively Impairs Leukemia Stem Cell Maintenance in Secondary Human AML. Cell Stem Cell (2016) 1.42
Prognostic relevance of MYD88 mutations in CLL: the jury is still out. Blood (2015) 1.41
Inter- and intra-patient clonal and subclonal heterogeneity of chronic lymphocytic leukaemia: evidences from circulating and lymph nodal compartments. Br J Haematol (2015) 1.41
Risk categories and refractory CLL in the era of chemoimmunotherapy. Blood (2012) 1.41
Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations. J Hematol Oncol (2016) 1.39
New connections between splicing and human disease. Trends Genet (2012) 1.39
Misregulation of pre-mRNA alternative splicing in cancer. Cancer Discov (2013) 1.39
The genomic landscape of small intestine neuroendocrine tumors. J Clin Invest (2013) 1.37
Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms. Blood (2013) 1.34
Integrative genomic analysis implicates gain of PIK3CA at 3q26 and MYC at 8q24 in chronic lymphocytic leukemia. Clin Cancer Res (2012) 1.33
Emerging roles of the spliceosomal machinery in myelodysplastic syndromes and other hematological disorders. Leukemia (2012) 1.31
Genome-wide profiling of yeast DNA:RNA hybrid prone sites with DRIP-chip. PLoS Genet (2014) 1.30
Autologous CLL cell vaccination early after transplant induces leukemia-specific T cells. J Clin Invest (2013) 1.30
Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms. Blood (2012) 1.29
Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome. J Exp Med (2013) 1.26
Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. J Clin Endocrinol Metab (2012) 1.21
Dynamic regulation of HIV-1 mRNA populations analyzed by single-molecule enrichment and long-read sequencing. Nucleic Acids Res (2012) 1.21
SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis (2014) 1.20
Clinical implications of the molecular genetics of chronic lymphocytic leukemia. Haematologica (2013) 1.17
Clonal evolution, genomic drivers, and effects of therapy in chronic lymphocytic leukemia. Clin Cancer Res (2013) 1.15
Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia. Haematologica (2012) 1.13
Defects in spliceosomal machinery: a new pathway of leukaemogenesis. Br J Haematol (2012) 1.12
Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas. J Clin Endocrinol Metab (2012) 1.12
Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage. Nat Commun (2016) 1.11
Spliceosome mutations exhibit specific associations with epigenetic modifiers and proto-oncogenes mutated in myelodysplastic syndrome. Haematologica (2013) 1.11
The development and application of small molecule modulators of SF3b as therapeutic agents for cancer. Drug Discov Today (2012) 1.10
Genetic lesions associated with chronic lymphocytic leukemia chemo-refractoriness. Blood (2014) 1.09
Functional impact of NOTCH1 mutations in chronic lymphocytic leukemia. Leukemia (2013) 1.08
SF3B1 mutations in chronic lymphocytic leukemia. Blood (2013) 1.08
Epigenetic upregulation of lncRNAs at 13q14.3 in leukemia is linked to the In Cis downregulation of a gene cluster that targets NF-kB. PLoS Genet (2013) 1.08
SF3B1 mutations constitute a novel therapeutic target in breast cancer. J Pathol (2014) 1.07
Measuring cereblon as a biomarker of response or resistance to lenalidomide and pomalidomide requires use of standardized reagents and understanding of gene complexity. Br J Haematol (2013) 1.07
Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers. PLoS Comput Biol (2015) 1.05
Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia. Oncotarget (2015) 1.03
The mutational landscape of chromatin regulatory factors across 4,623 tumor samples. Genome Biol (2013) 1.03
Monoclonal B-cell lymphocytosis is characterized by mutations in CLL putative driver genes and clonal heterogeneity many years before disease progression. Leukemia (2014) 1.02
The evolutionary biography of chronic lymphocytic leukemia. Nat Genet (2013) 1.02
Nanowire-mediated delivery enables functional interrogation of primary immune cells: application to the analysis of chronic lymphocytic leukemia. Nano Lett (2012) 1.01
The pathogenesis of chronic lymphocytic leukemia. Annu Rev Pathol (2013) 1.01
ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial. Haematologica (2014) 1.01
Chronic lymphocytic leukemia: molecular heterogeneity revealed by high-throughput genomics. Genome Med (2013) 1.01
Aberrant RNA splicing in cancer; expression changes and driver mutations of splicing factor genes. Oncogene (2015) 1.00
Targeting DDX3 with a small molecule inhibitor for lung cancer therapy. EMBO Mol Med (2015) 1.00
Clinical impact of clonal and subclonal TP53, SF3B1, BIRC3, NOTCH1, and ATM mutations in chronic lymphocytic leukemia. Blood (2016) 0.98
U2AF35(S34F) Promotes Transformation by Directing Aberrant ATG7 Pre-mRNA 3' End Formation. Mol Cell (2016) 0.98
Microenvironment interactions and B-cell receptor signaling in Chronic Lymphocytic Leukemia: Implications for disease pathogenesis and treatment. Biochim Biophys Acta (2015) 0.98
Deep sequencing identifies genetic heterogeneity and recurrent convergent evolution in chronic lymphocytic leukemia. Blood (2014) 0.97
Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation. Cancer Cell (2016) 0.96
Subclonal evolution involving SF3B1 mutations in chronic lymphocytic leukemia. Leukemia (2013) 0.96
New mutations in chronic lymphocytic leukemia identified by target enrichment and deep sequencing. PLoS One (2012) 0.96
Targeted next-generation sequencing in chronic lymphocytic leukemia: a high-throughput yet tailored approach will facilitate implementation in a clinical setting. Haematologica (2014) 0.96
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A (2005) 167.46
Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature (2008) 75.40
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Integrated genomic analyses of ovarian carcinoma. Nature (2011) 47.72
Integrative genomics viewer. Nat Biotechnol (2011) 42.83
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med (2009) 33.09
Initial genome sequencing and analysis of multiple myeloma. Nature (2011) 17.28
Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med (2000) 16.30
The genomic complexity of primary human prostate cancer. Nature (2011) 14.06
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia. Nature (2011) 13.18
The spliceosome: design principles of a dynamic RNP machine. Cell (2009) 12.82
Oncogenically active MYD88 mutations in human lymphoma. Nature (2010) 7.34
BRAF mutations in hairy-cell leukemia. N Engl J Med (2011) 7.05
ZAP-70 compared with immunoglobulin heavy-chain gene mutation status as a predictor of disease progression in chronic lymphocytic leukemia. N Engl J Med (2004) 7.04
An essential role for CoREST in nucleosomal histone 3 lysine 4 demethylation. Nature (2005) 5.89
Gene expression profiling of B cell chronic lymphocytic leukemia reveals a homogeneous phenotype related to memory B cells. J Exp Med (2001) 5.66
Spliceostatin A targets SF3b and inhibits both splicing and nuclear retention of pre-mRNA. Nat Chem Biol (2007) 4.95
Phosphorylation-dependent degradation of c-Myc is mediated by the F-box protein Fbw7. EMBO J (2004) 4.95
FBW7 mutations in leukemic cells mediate NOTCH pathway activation and resistance to gamma-secretase inhibitors. J Exp Med (2007) 4.59
Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. J Exp Med (2011) 4.37
A genome-wide siRNA screen reveals diverse cellular processes and pathways that mediate genome stability. Mol Cell (2009) 4.17
From pathogenesis to treatment of chronic lymphocytic leukaemia. Nat Rev Cancer (2009) 4.15
Splicing factor SF3b as a target of the antitumor natural product pladienolide. Nat Chem Biol (2007) 3.97
TP53 mutation and survival in chronic lymphocytic leukemia. J Clin Oncol (2010) 3.26
Constitutive activation of distinct BCR-signaling pathways in a subset of CLL patients: a molecular signature of anergy. Blood (2008) 2.71
Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A. Genes Dev (2011) 2.45
Mutations in the ATM gene lead to impaired overall and treatment-free survival that is independent of IGVH mutation status in patients with B-CLL. Blood (2005) 1.81
LEF-1 is a prosurvival factor in chronic lymphocytic leukemia and is expressed in the preleukemic state of monoclonal B-cell lymphocytosis. Blood (2010) 1.80
Sudemycins, novel small molecule analogues of FR901464, induce alternative gene splicing. ACS Chem Biol (2011) 1.77
SAP155 Binds to ceramide-responsive RNA cis-element 1 and regulates the alternative 5' splice site selection of Bcl-x pre-mRNA. FASEB J (2006) 1.65
FBXW7 influences murine intestinal homeostasis and cancer, targeting Notch, Jun, and DEK for degradation. J Exp Med (2011) 1.62
The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays. Curr Med Chem (2007) 1.41
Missense mutations located in structural p53 DNA-binding motifs are associated with extremely poor survival in chronic lymphocytic leukemia. J Clin Oncol (2011) 1.39
Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A (2005) 167.46
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
MicroRNA expression profiles classify human cancers. Nature (2005) 69.12
Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature (2007) 65.18
EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science (2004) 61.56
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
Full-length transcriptome assembly from RNA-Seq data without a reference genome. Nat Biotechnol (2011) 53.86
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
A bivalent chromatin structure marks key developmental genes in embryonic stem cells. Cell (2006) 48.80
Integrative genomics viewer. Nat Biotechnol (2011) 42.83
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell (2010) 39.09
Chromatin signature reveals over a thousand highly conserved large non-coding RNAs in mammals. Nature (2009) 35.48
The landscape of somatic copy-number alteration across human cancers. Nature (2010) 31.88
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature (2012) 31.78
Systematic discovery of regulatory motifs in human promoters and 3' UTRs by comparison of several mammals. Nature (2005) 31.60
Genome-scale DNA methylation maps of pluripotent and differentiated cells. Nature (2008) 30.29
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science (2009) 29.83
Sequencing and comparison of yeast species to identify genes and regulatory elements. Nature (2003) 29.16
Transcriptional regulatory code of a eukaryotic genome. Nature (2004) 27.21
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
EGFR mutation and resistance of non-small-cell lung cancer to gefitinib. N Engl J Med (2005) 26.35
The Connectivity Map: using gene-expression signatures to connect small molecules, genes, and disease. Science (2006) 25.99
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
High-quality draft assemblies of mammalian genomes from massively parallel sequence data. Proc Natl Acad Sci U S A (2010) 22.97
ARACHNE: a whole-genome shotgun assembler. Genome Res (2002) 22.72
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Signatures of mutational processes in human cancer. Nature (2013) 21.63
A molecular signature of metastasis in primary solid tumors. Nat Genet (2002) 21.36
Many human large intergenic noncoding RNAs associate with chromatin-modifying complexes and affect gene expression. Proc Natl Acad Sci U S A (2009) 20.66
ALLPATHS: de novo assembly of whole-genome shotgun microreads. Genome Res (2008) 20.61
International network of cancer genome projects. Nature (2010) 20.35
Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature (2013) 20.16
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med (2013) 19.87
Genomic maps and comparative analysis of histone modifications in human and mouse. Cell (2005) 18.96
Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma. Proc Natl Acad Sci U S A (2007) 18.83
A lentiviral RNAi library for human and mouse genes applied to an arrayed viral high-content screen. Cell (2006) 18.81
Ab initio reconstruction of cell type-specific transcriptomes in mouse reveals the conserved multi-exonic structure of lincRNAs. Nat Biotechnol (2010) 18.44
Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. Lancet Oncol (2011) 18.34
A perivascular origin for mesenchymal stem cells in multiple human organs. Cell Stem Cell (2008) 18.18
The mammalian epigenome. Cell (2007) 18.13
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell (2005) 17.41
Initial genome sequencing and analysis of multiple myeloma. Nature (2011) 17.28
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
BRAF mutation predicts sensitivity to MEK inhibition. Nature (2005) 17.14
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
The mutational landscape of head and neck squamous cell carcinoma. Science (2011) 16.88