Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma

H3B-8800, an orally available small-molecule splicing modulator, induces lethality in spliceosome-mutant cancers

(2018) Michael Seiler et al.   NATURE MEDICINE

Identification of Single Nucleotide Non-coding Driver Mutations in Cancer

(2018) Kok A. Gan et al.   Frontiers in Genetics

The whole-genome landscape of medulloblastoma subtypes

(2017) Paul A. Northcott et al.   NATURE

Annotation-free quantification of RNA splicing using LeafCutter

(2017) Yang I. Li et al.   NATURE GENETICS

Rfam 13.0: shifting to a genome-centric resource for non-coding RNA families

(2017) Ioanna Kalvari et al.   NUCLEIC ACIDS RESEARCH

HDAC and PI3K Antagonists Cooperate to Inhibit Growth of MYC- Driven Medulloblastoma

(2016) Yanxin Pei et al.   CANCER CELL

Divergent clonal selection dominates medulloblastoma at recurrence

(2016) A. Sorana Morrissy et al.   NATURE

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

(2015) Eunhee Kim et al.   CANCER CELL

Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

(2014) Andy Rimmer et al.   NATURE GENETICS

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

(2014) Ghayda M Mirzaa et al.   NATURE GENETICS

rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data

(2014) Shihao Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of somatic mutations in cancer through Bayesian-based analysis of sequenced genome pairs

(2013) Alexis Christoforides et al.   BMC GENOMICS

Subgroup-Specific Prognostic Implications ofTP53Mutation in Medulloblastoma

(2013) Nataliya Zhukova et al.   JOURNAL OF CLINICAL ONCOLOGY

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

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

(2013) Yuichi Shiraishi et al.   NUCLEIC ACIDS RESEARCH

Highly Recurrent TERT Promoter Mutations in Human Melanoma

(2013) F. W. Huang et al.   SCIENCE

Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs

(2012) Christopher T. Saunders et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

(2012) D. C. Koboldt et al.   GENOME RESEARCH

Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations

(2012) Trevor J. Pugh et al.   NATURE

Dissecting the genomic complexity underlying medulloblastoma

(2012) David T. W. Jones et al.   NATURE

Subgroup-specific structural variation across 1,000 medulloblastoma genomes

(2012) Paul A. Northcott et al.   NATURE

The clinical implications of medulloblastoma subgroups

(2012) Paul A. Northcott et al.   Nature Reviews Neurology

Differential Epigenetic Regulation of TOX Subfamily High Mobility Group Box Genes in Lung and Breast Cancers

(2012) Mathewos Tessema et al.   PLoS One

Molecular subgroups of medulloblastoma: the current consensus

(2011) Michael D. Taylor et al.   ACTA NEUROPATHOLOGICA

SomaticSniper: identification of somatic point mutations in whole genome sequencing data

(2011) David E. Larson et al.   BIOINFORMATICS

Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data

(2011) Valentina Boeva et al.   BIOINFORMATICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

GISTIC2.0 facilitates sensitive and confident localization of the targets of focal somatic copy-number alteration in human cancers

(2011) Craig H Mermel et al.   GENOME BIOLOGY

Identification and Characterization of a Novel Human PP1 Phosphatase Complex

(2010) Jeong-Heon Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Medulloblastoma Comprises Four Distinct Molecular Variants

(2010) Paul A. Northcott et al.   JOURNAL OF CLINICAL ONCOLOGY

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

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

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

Allele-specific copy number analysis of tumors

(2010) P. Van Loo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

VARNA: Interactive drawing and editing of the RNA secondary structure

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