Multiplex gene and phenotype network to characterize shared genetic pathways of epilepsy and autism

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

A new mouse line with reduced GluA2 Q/R site RNA editing exhibits loss of dendritic spines, hippocampal CA1-neuron loss, learning and memory impairments and NMDA receptor-independent seizure vulnerability

(2020) Lyndsey M. Konen et al.   Molecular Brain

Role of Metabotropic Glutamate Receptors in Neurological Disorders

(2019) Rosalia Crupi et al.   Frontiers in Molecular Neuroscience

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

(2019) Katherine L. Helbig et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E

(2019) Gemma L. Carvill   Epilepsy Currents

Topological and functional comparison of community detection algorithms in biological networks

(2019) Sara Rahiminejad et al.   BMC BIOINFORMATICS

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

(2019) Vincenzo Salpietro et al.   Nature Communications

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

(2019) Yen-Chen Anne Feng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ankyrin B and Ankyrin B variants differentially modulate intracellular and surface Cav2.1 levels

(2019) Catherine S. W. Choi et al.   Molecular Brain

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders

(2019) Julie Chow et al.   Genome Medicine

Epilepsy Genetics: current knowledge, applications and future directions

(2018) Kenneth A. Myers et al.   CLINICAL GENETICS

Progress in the genetics of autism spectrum disorder

(2018) Marc Woodbury-Smith et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons

(2018) Ping Wang et al.   Translational Psychiatry

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Neurobiological bases of autism-epilepsy comorbidity: a focus on excitation/inhibition imbalance

(2017) Yuri Bozzi et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

The Heritability of Autism Spectrum Disorder

(2017) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Autism genetics: opportunities and challenges for clinical translation

(2017) Jacob A. S. Vorstman et al.   NATURE REVIEWS GENETICS

Epilepsy-associated genes

(2017) Jie Wang et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The DLGAP family: neuronal expression, function and role in brain disorders

(2017) Andreas H. Rasmussen et al.   Molecular Brain

Deep Genetic Connection Between Cancer and Developmental Disorders

(2016) Hongjian Qi et al.   HUMAN MUTATION

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

(2016) Arjun Krishnan et al.   NATURE NEUROSCIENCE

Recent Advances in the Genetics of Autism Spectrum Disorder

(2015) Silvia De Rubeis et al.   Current Neurology and Neuroscience Reports

Autism spectrum disorder and epilepsy: Disorders with a shared biology

(2015) Bo Hoon Lee et al.   EPILEPSY & BEHAVIOR

Heritability of autism spectrum disorders: a meta-analysis of twin studies

(2015) Beata Tick et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Significant expansion of the REST/NRSF cistrome in human versus mouse embryonic stem cells: potential implications for neural development

(2015) Shira Rockowitz et al.   NUCLEIC ACIDS RESEARCH

Advancing epilepsy genetics in the genomic era

(2015) Candace T. Myers et al.   Genome Medicine

Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample

(2015) Emma Colvert et al.   JAMA Psychiatry

Correcting for the study bias associated with protein–protein interaction measurements reveals differences between protein degree distributions from different cancer types

(2015) Martin H. Schaefer et al.   Frontiers in Genetics

The discovery of integrated gene networks for autism and related disorders

(2014) Fereydoun Hormozdiari et al.   GENOME RESEARCH

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

(2014) Shafali S. Jeste et al.   Nature Reviews Neurology

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

(2014) Li Liu et al.   Molecular Autism

Autism genetics

(2013) Antonio M. Persico et al.   BEHAVIOURAL BRAIN RESEARCH

BDgene: A Genetic Database for Bipolar Disorder and Its Overlap With Schizophrenia and Major Depressive Disorder

(2013) Su-Hua Chang et al.   BIOLOGICAL PSYCHIATRY

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Recent advances in the molecular genetics of epilepsy

(2013) Michael S Hildebrand et al.   JOURNAL OF MEDICAL GENETICS

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

Channelopathy pathogenesis in autism spectrum disorders

(2013) Galina Schmunk et al.   Frontiers in Genetics

Diagnosing autism in neurobiological research studies

(2012) Rebecca M. Jones et al.   BEHAVIOURAL BRAIN RESEARCH

The α2δ subunits of voltage-gated calcium channels

(2012) Annette C. Dolphin   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Epilepsy and autism: Is there a special relationship?

(2012) Anne T. Berg et al.   EPILEPSY & BEHAVIOR

Differential expression analysis of multifactor RNA-Seq experiments with respect to biological variation

(2012) Davis J. McCarthy et al.   NUCLEIC ACIDS RESEARCH

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

Epilepsy and Autism: Neurodevelopmental Perspective

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

Epilepsy genetics—past, present, and future

(2011) Annapurna Poduri et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

(2011) Bing-Mei Li et al.   EPILEPSY & BEHAVIOR

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

The genetics of neurodevelopmental disease

(2010) Kevin J Mitchell   CURRENT OPINION IN NEUROBIOLOGY

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS

Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis

(2008) Claire Amiet et al.   BIOLOGICAL PSYCHIATRY

Ionotropic Glutamate Receptors & CNS Disorders

(2008) Derek Bowie   CNS & Neurological Disorders-Drug Targets

Protein networks in disease

(2008) T. Ideker et al.   GENOME RESEARCH

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database

(2008) Nicole C Allen et al.   NATURE GENETICS