EpilepsyGene: a genetic resource for genes and mutations related to epilepsy

Progress across the spectrum of epilepsy research

(2014) Frances E. Jensen   Nature Reviews Neurology

Targeting ion transport in cancer

(2014) E. Oosterwijk et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degeneration

(2014) X. Ran et al.   Database-The Journal of Biological Databases and Curation

Epilepsy associated with autism and attention deficit hyperactivity disorder: Is there a genetic link?

(2013) Adriana Lo-Castro et al.   BRAIN & DEVELOPMENT

Genetics of the epilepsies

(2013) Ingo Helbig et al.   CURRENT OPINION IN NEUROLOGY

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

The Mouse Genome Database: integration of and access to knowledge about the laboratory mouse

(2013) Judith A. Blake et al.   NUCLEIC ACIDS RESEARCH

WEB-based GEne SeT AnaLysis Toolkit (WebGestalt): update 2013

(2013) Jing Wang et al.   NUCLEIC ACIDS RESEARCH

Data, information, knowledge and principle: back to metabolism in KEGG

(2013) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Blood microRNA changes in depressed patients during antidepressant treatment

(2012) Luisella Bocchio-Chiavetto et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

(2012) Hashem A. Shihab et al.   HUMAN MUTATION

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Incidence and prevalence of epilepsy among older US Medicare beneficiaries

(2012) E. Faught et al.   NEUROLOGY

Gene Ontology Annotations and Resources

(2012)   NUCLEIC ACIDS RESEARCH

Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing

(2011) Kathleen Askland et al.   HUMAN GENETICS

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

(2011) Joanna Amberger et al.   HUMAN MUTATION

A high-resolution map of human evolutionary constraint using 29 mammals

(2011) Kerstin Lindblad-Toh et al.   NATURE

Atypical presentation of a novel Presenilin 1 R377W mutation: sporadic, late-onset Alzheimer disease with epilepsy and frontotemporal atrophy

(2011) Barbara Borroni et al.   NEUROLOGICAL SCIENCES

ADHDgene: a genetic database for attention deficit hyperactivity disorder

(2011) L. Zhang et al.   NUCLEIC ACIDS RESEARCH

AutismKB: an evidence-based knowledgebase of autism genetics

(2011) Li-Ming Xu et al.   NUCLEIC ACIDS RESEARCH

WikiPathways: building research communities on biological pathways

(2011) T. Kelder et al.   NUCLEIC ACIDS RESEARCH

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

(2011) Francesco Nicita et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The Epilepsy Genetic Association Database (epiGAD): Analysis of 165 genetic association studies, 1996-2008

(2010) Nigel C. K. Tan et al.   EPILEPSIA

SZGR: a comprehensive schizophrenia gene resource

(2010) P Jia et al.   MOLECULAR PSYCHIATRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Pathway Commons, a web resource for biological pathway data

(2010) E. G. Cerami et al.   NUCLEIC ACIDS RESEARCH

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

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

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Schizophrenia and epilepsy: Is there a shared susceptibility?

(2009) Nicola G. Cascella et al.   NEUROSCIENCE RESEARCH

Early Onset Familial Alzheimer Disease With Spastic Paraparesis, Dysarthria, and Seizures and N135S Mutation in PSEN1

(2008) Leslie A. Rudzinski et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

(2008) Wei Yu et al.   BMC BIOINFORMATICS

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Convulsing toward the pathophysiology of autism

(2008) Roberto Tuchman et al.   BRAIN & DEVELOPMENT