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Signatures of mutational processes in human cancer
TLDR
It is shown that hypermutation localized to small genomic regions, ‘kataegis’, is found in many cancer types, and this results reveal the diversity of mutational processes underlying the development of cancer. Expand
Genomic aberrations and survival in chronic lymphocytic leukemia.
TLDR
Genomic aberrations in chronic lymphocytic leukemia are important independent predictors of disease progression and survival and have implications for the design of risk-adapted treatment strategies. Expand
A Mammalian microRNA Expression Atlas Based on Small RNA Library Sequencing
TLDR
A relatively small set of miRNAs, many of which are ubiquitously expressed, account for most of the differences in miRNA profiles between cell lineages and tissues. Expand
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma
TLDR
The presence of H3F3A/ATRX-DAXX/TP53 mutations was strongly associated with alternative lengthening of telomeres and specific gene expression profiles, suggesting that defects of the chromatin architecture underlie paediatric and young adult GBM pathogenesis. Expand
Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.
TLDR
It is demonstrated that each H3F3A mutation defines an epigenetic subgroup of GBM with a distinct global methylation pattern, and that they are mutually exclusive with IDH1 mutations, which characterize a third mutation-defined subgroup. Expand
Molecular subgroups of medulloblastoma: the current consensus
TLDR
It is anticipated that the molecular classification of medulloblastoma will continue to evolve and diversify in the future as larger cohorts are studied at greater depth, and herein is outlined the current consensus nomenclature, and the differences between the medullOBlastoma subgroups. Expand
A biologic definition of Burkitt's lymphoma from transcriptional and genomic profiling.
TLDR
The molecular definition of Burkitt's lymphoma clarifies and extends the spectrum of the WHO criteria for Burkitt’s lymphoma. Expand
V(H) mutation status, CD38 expression level, genomic aberrations, and survival in chronic lymphocytic leukemia.
TLDR
In multivariate analysis, unmutated V(H), 17p deletion, 11q deletion, age, WBC, and LDH were identified as independent prognostic factors, indicating a complementary role of V (H) mutation status and genomic aberrations to predict outcome in CLL. Expand
Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas
TLDR
A meta-analysis of all molecular and clinical data of 550 medulloblastomas brought together from seven independent studies shows how distinct the molecular subtypes are with respect to their transcriptome, DNA copy-number aberrations, demographics, and survival. Expand
Genome Sequencing of Pediatric Medulloblastoma Links Catastrophic DNA Rearrangements with TP53 Mutations
TLDR
The whole-genome sequencing-based analysis of a Sonic-Hedgehog medulloblastoma brain tumor from a patient with a germline TP53 mutation is reported, uncovering massive, complex chromosome rearrangements and connecting p53 status and chromothripsis in specific tumor types. Expand
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