Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Behavior and Sleep Problems in Children With a Family History of Autism

(2013) Amy Jo Schwichtenberg et al.   Autism Research

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

(2013) A. Jeremy Willsey et al.   CELL

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

(2013) Neelroop N. Parikshak et al.   CELL

Autism spectrum disorder in the genetics clinic: a review

(2013) MT Carter et al.   CLINICAL GENETICS

Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system

(2013) A S Cristino et al.   MOLECULAR PSYCHIATRY

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

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

(2013) Tommaso Pippucci et al.   PLoS One

Differential Effects of Human L1CAM Mutations on Complementing Guidance and Synaptic Defects in Drosophila melanogaster

(2013) Sirisha Kudumala et al.   PLoS One

Transsynaptic Coordination of Synaptic Growth, Function, and Stability by the L1-Type CAM Neuroglian

(2013) Eva-Maria Enneking et al.   PLOS BIOLOGY

Whole-genome sequencing in an autism multiplex family

(2013) Lingling Shi et al.   Molecular Autism

Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

(2013) Hyejung Won et al.   Frontiers in Molecular Neuroscience

Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia

(2012) Anna C. Need et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

(2012) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

miRdSNP: a database of disease-associated SNPs and microRNA target sites on 3'UTRs of human genes

(2012) Andrew E Bruno et al.   BMC GENOMICS

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Mutations ofANK3identified by exome sequencing are associated with autism susceptibility

(2012) Cheng Bi et al.   HUMAN MUTATION

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

(2012) C S Ku et al.   MOLECULAR PSYCHIATRY

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

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

(2012) Maria H. Chahrour et al.   PLoS Genetics

Predicting the effects of frameshifting indels

(2012) Jing Hu et al.   GENOME BIOLOGY

Autism genetics: searching for specificity and convergence

(2012) Jamee M Berg et al.   GENOME BIOLOGY

A Prospective Study of Autistic-Like Traits in Unaffected Siblings of Probands With Autism Spectrum Disorder

(2012) Stelios Georgiades et al.   JAMA Psychiatry

A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders

(2011) Catherine Lord   ARCHIVES OF GENERAL PSYCHIATRY

Genetic basis of autism: is there a way forward?

(2011) Valsamma Eapen   CURRENT OPINION IN PSYCHIATRY

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Genome-wide identification of SNPs in microRNA genes and the SNP effects on microRNA target binding and biogenesis

(2011) Jing Gong et al.   HUMAN MUTATION

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

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

(2011) Mark A DePristo et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

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

Genotype and SNP calling from next-generation sequencing data

(2011) Rasmus Nielsen et al.   NATURE REVIEWS GENETICS

Genetics of autism spectrum disorders

(2011) Daniel H. Geschwind   TRENDS IN COGNITIVE SCIENCES

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Cytoscape 2.8: new features for data integration and network visualization

(2010) M. E. Smoot et al.   BIOINFORMATICS

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

(2010) Catalina Betancur   BRAIN RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

Neurexins, Neuroligins and LRRTMs: synaptic adhesion getting fishy

(2010) Gavin J. Wright et al.   JOURNAL OF NEUROCHEMISTRY

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

miRBase: integrating microRNA annotation and deep-sequencing data

(2010) A. Kozomara et al.   NUCLEIC ACIDS RESEARCH

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

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

Defining the broader, medium and narrow autism phenotype among parents using the Autism Spectrum Quotient (AQ)

(2010) Sally Wheelwright et al.   Molecular Autism

Fine mapping and association studies in a candidate region for autism on chromosome 2q31-q32

(2009) Judith Conroy et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Association of the α4 integrin subunit gene (ITGA4) with autism

(2009) Catarina Correia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Advances in Autism

(2009) Daniel H. Geschwind   Annual Review of Medicine

ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks

(2009) Gabriela Bindea et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

An analysis of candidate autism loci on chromosome 2q24-q33: Evidence for association to theSTK39gene

(2008) Nicolas Ramoz et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism

(2008) Tetsuya Marui et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Defining key features of the broad autism phenotype: A comparison across parents of multiple- and single-incidence autism families

(2007) Molly Losh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS