4.5 Article

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Clinical Neurology

Epi4K: Gene discovery in 4,000 genomes

Sam Berkovic et al.

EPILEPSIA (2012)

Article Clinical Neurology

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Johannes R. Lemke et al.

EPILEPSIA (2012)

Article Biochemistry & Molecular Biology

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

Antony A. Boucard et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2012)

Article Clinical Neurology

THAP1 mutations and dystonia phenotypes: Genotype phenotype correlations

Georgia Xiromerisiou et al.

MOVEMENT DISORDERS (2012)

Article Multidisciplinary Sciences

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

Benjamin M. Neale et al.

NATURE (2012)

Article Multidisciplinary Sciences

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

Stephan J. Sanders et al.

NATURE (2012)

Article Multidisciplinary Sciences

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

Augustine Kong et al.

NATURE (2012)

Letter Biochemical Research Methods

Evolutionary diagnosis method for variants in personal exomes

Sudhir Kumar et al.

NATURE METHODS (2012)

Article Medicine, General & Internal

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Review Genetics & Heredity

Exome sequencing in Parkinson's disease

J. M. Bras et al.

CLINICAL GENETICS (2011)

Review Clinical Neurology

Epilepsy and Autism: Neurodevelopmental Perspective

Roberto Tuchman et al.

CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS (2011)

Article Clinical Neurology

Epilepsy caused by CDKL5 mutations

Maija Castren et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2011)

Article Biochemistry & Molecular Biology

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

Tony T. H. Lui et al.

MOLECULAR AND CELLULAR BIOLOGY (2011)

Article Multidisciplinary Sciences

Spatio-temporal transcriptome of the human brain

Hyo Jung Kang et al.

NATURE (2011)

Review Genetics & Heredity

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad et al.

NATURE REVIEWS GENETICS (2011)

Article Biochemistry & Molecular Biology

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

Wanli Zeng et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2010)

Article Biochemical Research Methods

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

Heng Li et al.

BIOINFORMATICS (2010)

Article Clinical Neurology

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

Amy Brooks-Kayal

BRAIN & DEVELOPMENT (2010)

Article Biochemistry & Molecular Biology

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

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Biochemistry & Molecular Biology

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

Gesa Rickheit et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Biochemistry & Molecular Biology

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

Tobias Stauber et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2010)

Article Genetics & Heredity

A de novo paradigm for mental retardation

Lisenka E. L. M. Vissers et al.

NATURE GENETICS (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Letter Biochemical Research Methods

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz et al.

NATURE METHODS (2010)

Article Biochemistry & Molecular Biology

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

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Review Neurosciences

A synaptic trek to autism

Thomas Bourgeron

CURRENT OPINION IN NEUROBIOLOGY (2009)

Review Clinical Neurology

Angelman syndrome: Current understanding and research prospects

Bernard Dan

EPILEPSIA (2009)

Article Genetics & Heredity

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

C. Depienne et al.

JOURNAL OF MEDICAL GENETICS (2009)

Article Biochemistry & Molecular Biology

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

Thomas J. Jentsch

CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY (2008)

Article Multidisciplinary Sciences

Lysosomal storage disease upon disruption of the neuronal chloride transport protein CIC-6

Mallorie Poet et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)

Review Medicine, General & Internal

Ion channels and epilepsy

TD Graves

QJM-AN INTERNATIONAL JOURNAL OF MEDICINE (2006)

Review Clinical Neurology

The epileptic encephalopathies of infancy and childhood

E Wirrell et al.

CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2005)

Article Genetics & Heredity

SCN1A mutations and epilepsy

JC Mulley et al.

HUMAN MUTATION (2005)

Article Pediatrics

Mortality in childhood-onset epilepsy

AT Berg et al.

ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (2004)