Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

qgraph: Network Visualizations of Relationships in Psychometric Data

(2015) Sacha Epskamp et al.   Journal of Statistical Software

The developmental transcriptome of the human brain

(2014) Andrew T.N. Tebbenkamp et al.   CURRENT OPINION IN NEUROLOGY

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

(2014) Martin Kircher et al.   NATURE GENETICS

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

(2013) Kazuyuki Nakamura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy

(2013) Johannes R. Lemke et al.   ANNALS OF NEUROLOGY

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

(2013) Ian M. Campbell et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Computational approaches to disease-gene prediction: rationale, classification and successes

(2012) Rosario M. Piro et al.   FEBS Journal

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Non-coding RNAs in human disease

(2011) Manel Esteller   NATURE REVIEWS GENETICS

Prioritization of Epilepsy Associated Candidate Genes by Convergent Analysis

(2011) Peilin Jia et al.   PLoS One

In Silico Gene Prioritization by Integrating Multiple Data Sources

(2011) Yixuan Chen et al.   PLoS One

Evaluation of Candidate Genes from Orphan FEB and GEFS+ Loci by Analysis of Human Brain Gene Expression Atlases

(2011) Rosario M. Piro et al.   PLoS One

Detecting Novel Associations in Large Data Sets

(2011) D. N. Reshef et al.   SCIENCE

Brownian distance covariance

(2010) Gábor J. Székely et al.   Annals of Applied Statistics

A guide to web tools to prioritize candidate genes

(2010) L.-C. Tranchevent et al.   BRIEFINGS IN BIOINFORMATICS

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored

(2010) D. Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Disease Gene Characterization through Large-Scale Co-Expression Analysis

(2009) Allen Day et al.   PLoS One