Synaptic, transcriptional and chromatin genes disrupted in autism

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

(2014) Céline Helsmoortel et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens

(2014) Jian Feng et al.   GENOME BIOLOGY

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

(2014) Li Liu et al.   Molecular Autism

Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder

(2013) Christopher S. Poultney et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Network2Canvas: network visualization on a canvas with enrichment analysis

(2013) Christopher M. Tan et al.   BIOINFORMATICS

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

(2013) Ute I Scholl et al.   NATURE GENETICS

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

(2013) Stephan Ripke et al.   NATURE GENETICS

From neural development to cognition: unexpected roles for chromatin

(2013) Jehnna L. Ronan et al.   NATURE REVIEWS GENETICS

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Examining and interpreting the female protective effect against autistic behavior

(2013) E. B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Myo9b and RICS Modulate Dendritic Morphology of Cortical Neurons

(2012) Hui Long et al.   CEREBRAL CORTEX

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

(2012) Anita Rauch et al.   LANCET

FMRP targets distinct mRNA sequence elements to regulate protein expression

(2012) Manuel Ascano et al.   NATURE

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

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

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

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Common genetic variants, acting additively, are a major source of risk for autism

(2012) Lambertus Klei et al.   Molecular Autism

Autism spectrum disorders and autistic traits: A decade of new twin studies

(2011) Angelica Ronald et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

(2011) Linda Volkers et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Dendritic spine pathology in neuropsychiatric disorders

(2011) Peter Penzes et al.   NATURE NEUROSCIENCE

HIstome--a relational knowledgebase of human histone proteins and histone modifying enzymes

(2011) S. P. Khare et al.   NUCLEIC ACIDS RESEARCH

ChEA: transcription factor regulation inferred from integrating genome-wide ChIP-X experiments

(2010) Alexander Lachmann et al.   BIOINFORMATICS

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MicroRNA miR-137 Regulates Neuronal Maturation by Targeting Ubiquitin Ligase Mind Bomb-1

(2010) Richard D. Smrt et al.   STEM CELLS

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Mind Bomb 1-Expressing Intermediate Progenitors Generate Notch Signaling to Maintain Radial Glial Cells

(2008) Ki-Jun Yoon et al.   NEURON