Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

(2013) T. T. Chen et al.   NEUROLOGY

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epi4K: Gene discovery in 4,000 genomes

(2012)   EPILEPSIA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

High Affinity Neurexin Binding to Cell Adhesion G-protein-coupled Receptor CIRL1/Latrophilin-1 Produces an Intercellular Adhesion Complex

(2012) Antony A. Boucard et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

(2012) Georgia Xiromerisiou et al.   MOVEMENT DISORDERS

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

Evolutionary diagnosis method for variants in personal exomes

(2012) Sudhir Kumar et al.   NATURE METHODS

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Differential Effects of UCHL1 Modulation on Alpha-Synuclein in PD-Like Models of Alpha-Synucleinopathy

(2012) Anna E. Cartier et al.   PLoS One

Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress

(2012) Gholson J Lyon et al.   Genome Medicine

Exome sequencing in Parkinson's disease

(2011) JM Bras et al.   CLINICAL GENETICS

Epilepsy and Autism: Neurodevelopmental Perspective

(2011) Roberto Tuchman et al.   Current Neurology and Neuroscience Reports

The Ubiquitin-Specific Protease USP34 Regulates Axin Stability and Wnt/ -Catenin Signaling

(2011) T. T. H. Lui et al.   MOLECULAR AND CELLULAR BIOLOGY

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

Xenopus RCOR2 (REST corepressor 2) interacts with ZMYND8, which is involved in neural differentiation

(2010) Wanli Zeng et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?

(2010) Amy Brooks-Kayal   BRAIN & DEVELOPMENT

EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation

(2010) Seth S. Margolis et al.   CELL

Epilepsy caused by CDKL5 mutations

(2010) Maija Castrén et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Role of ClC-5 in Renal Endocytosis Is Unique among ClC Exchangers and Does Not Require PY-motif-dependent Ubiquitylation

(2010) Gesa Rickheit et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

(2010) Tobias Stauber et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

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

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

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

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Angelman syndrome: Current understanding and research prospects

(2009) Bernard Dan   EPILEPSIA

Retraction Note to: Retraction: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies

(2009) Karsten Haug et al.   NATURE GENETICS

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

(2008) Thomas J. Jentsch   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS