Germline Elongator mutations in Sonic Hedgehog medulloblastoma

Pan-cancer analysis of whole genomes

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Gene expression across mammalian organ development

(2019) Margarida Cardoso-Moreira et al.   NATURE

Germline GPR161 Mutations Predispose to Pediatric Medulloblastoma

(2019) Matthias Begemann et al.   JOURNAL OF CLINICAL ONCOLOGY

Elongator—a tRNA modifying complex that promotes efficient translational decoding

(2018) Marcus J.O. Johansson et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort

(2018) Sebastian M Waszak et al.   LANCET ONCOLOGY

Risk-adapted therapy for young children with medulloblastoma (SJYC07): therapeutic and molecular outcomes from a multicentre, phase 2 trial

(2018) Giles W Robinson et al.   LANCET ONCOLOGY

Multi‐Omics Factor Analysis—a framework for unsupervised integration of multi‐omics data sets

(2018) Ricard Argelaguet et al.   Molecular Systems Biology

The landscape of genomic alterations across childhood cancers

(2018) Susanne N. Gröbner et al.   NATURE

DNA methylation-based classification of central nervous system tumours

(2018) David Capper et al.   NATURE

Elongator and codon bias regulate protein levels in mammalian peripheral neurons

(2018) Joy Goffena et al.   Nature Communications

Aberrant ERBB4-SRC Signaling as a Hallmark of Group 4 Medulloblastoma Revealed by Integrative Phosphoproteomic Profiling

(2018) Antoine Forget et al.   CANCER CELL

A Single-Cell Transcriptional Atlas of the Developing Murine Cerebellum

(2018) Robert A. Carter et al.   CURRENT BIOLOGY

Roles of Elongator Dependent tRNA Modification Pathways in Neurodegeneration and Cancer

(2018) Harmen Hawer et al.   Genes

A comparison of methods for inferring causal relationships between genotype and phenotype using additional biological measurements

(2017) Holly F. Ainsworth et al.   GENETIC EPIDEMIOLOGY

Novel molecular subgroups for clinical classification and outcome prediction in childhood medulloblastoma: a cohort study

(2017) Edward C Schwalbe et al.   LANCET ONCOLOGY

The whole-genome landscape of medulloblastoma subtypes

(2017) Paul A. Northcott et al.   NATURE

ER stress and the unfolded protein response in neurodegeneration

(2017) Claudio Hetz et al.   Nature Reviews Neurology

Architecture of the yeast Elongator complex

(2016) Maria I Dauden et al.   EMBO REPORTS

Molecular architecture of the yeast Elongator complex reveals an unexpected asymmetric subunit arrangement

(2016) Dheva T Setiaputra et al.   EMBO REPORTS

The Simons Genome Diversity Project: 300 genomes from 142 diverse populations

(2016) Swapan Mallick et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Ensembl gene annotation system

(2016) Bronwen L. Aken et al.   Database-The Journal of Biological Databases and Curation

Unified representation of genetic variants

(2015) Adrian Tan et al.   BIOINFORMATICS

Optimization of Codon Translation Rates via tRNA Modifications Maintains Proteome Integrity

(2015) Danny D. Nedialkova et al.   CELL

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

(2015) Sebastian M. Waszak et al.   CELL

A Dynamic Unfolded Protein Response Contributes to the Control of Cortical Neurogenesis

(2015) Sophie Laguesse et al.   DEVELOPMENTAL CELL

Building high-quality assay libraries for targeted analysis of SWATH MS data

(2015) Olga T Schubert et al.   Nature Protocols

Germline Mutations in Predisposition Genes in Pediatric Cancer

(2015) Jinghui Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia

(2015) Mayumi Yoshida et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MSstats: an R package for statistical analysis of quantitative mass spectrometry-based proteomic experiments

(2014) Meena Choi et al.   BIOINFORMATICS

Genome Sequencing of SHH Medulloblastoma Predicts Genotype-Related Response to Smoothened Inhibition

(2014) Marcel Kool et al.   CANCER CELL

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

OpenSWATH enables automated, targeted analysis of data-independent acquisition MS data

(2014) Hannes L Röst et al.   NATURE BIOTECHNOLOGY

Quantitative analysis of ribonucleoside modifications in tRNA by HPLC-coupled mass spectrometry

(2014) Dan Su et al.   Nature Protocols

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

DELLY: structural variant discovery by integrated paired-end and split-read analysis

(2012) T. Rausch et al.   BIOINFORMATICS

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

MODOMICS: a database of RNA modification pathways—2013 update

(2012) Magdalena A. Machnicka et al.   NUCLEIC ACIDS RESEARCH

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mobile Phone Use and Brain Tumors in Children and Adolescents: A Multicenter Case-Control Study

(2011) D. Aydin et al.   JNCI-Journal of the National Cancer Institute

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

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

Elongator Controls the Migration and Differentiation of Cortical Neurons through Acetylation of α-Tubulin

(2009) Catherine Creppe et al.   CELL

Neoplasia in Familial Dysautonomia: A 20-Year Review in a Young Patient Population

(2009) Gabrielle Gold-von Simson et al.   JOURNAL OF PEDIATRICS