Germline cancer predisposition variants and pediatric glioma: a population-based study in California

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

(2018) Ian T. Fiddes et al.   CELL

The landscape of genomic alterations across childhood cancers

(2018) Susanne N. Gröbner et al.   NATURE

GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21

(2018) Joseph L. Wiemels et al.   Nature Communications

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis

(2018) Kelvin C. de Andrade et al.   HUMAN MUTATION

GENCODE reference annotation for the human and mouse genomes

(2018) Adam Frankish et al.   NUCLEIC ACIDS RESEARCH

Pediatric Gliomas: Current Concepts on Diagnosis, Biology, and Clinical Management

(2017) Dominik Sturm et al.   JOURNAL OF CLINICAL ONCOLOGY

Survival outcomes in pediatric recurrent high-grade glioma: results of a 20-year systematic review and meta-analysis

(2017) Cassie Kline et al.   JOURNAL OF NEURO-ONCOLOGY

CBTRUS Statistical Report: Primary brain and other central nervous system tumors diagnosed in the United States in 2010–2014

(2017) Quinn T Ostrom et al.   NEURO-ONCOLOGY

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

(2017) Yuya Kobayashi et al.   Genome Medicine

Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report

(2016) Ayfer Aslan et al.   CHILDS NERVOUS SYSTEM

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas

(2016) Jelte Helfferich et al.   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY

TP53Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data

(2016) Liacine Bouaoun et al.   HUMAN MUTATION

Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency

(2016) Eric Bouffet et al.   JOURNAL OF CLINICAL ONCOLOGY

Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study

(2016) Anita Villani et al.   LANCET ONCOLOGY

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

(2016) Monkol Lek et al.   NATURE

Improved Ancestry Estimation for both Genotyping and Sequencing Data using Projection Procrustes Analysis and Genotype Imputation

(2015) Chaolong Wang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

(2015) Gaëlle Bougeard et al.   JOURNAL OF CLINICAL ONCOLOGY

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

(2015) Adam Shlien et al.   NATURE GENETICS

Germline Mutations in Predisposition Genes in Pediatric Cancer

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

The NF1 gene revisited – from bench to bedside

(2015) Yoon-Sim Yap et al.   Oncotarget

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

(2014) Andrew R Carson et al.   BMC BIOINFORMATICS

Germline Mutations in Shelterin Complex Genes Are Associated With Familial Glioma

(2014) Matthew N. Bainbridge et al.   JNCI-Journal of the National Cancer Institute

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

(2013) David T W Jones et al.   NATURE GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

(2012) Jeremy Schwartzentruber et al.   NATURE

A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data

(2011) H. Li   BIOINFORMATICS

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

IDH1andIDH2Mutations in Gliomas

(2009) Hai Yan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Trends in childhood cancer incidence in the U.S. (1992–2004)

(2007) Amy M. Linabery et al.   CANCER