Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders

(2013) Lily Paemka et al.   PLoS One

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

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

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

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

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

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

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

(2011) Hirotaka Tao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder

(2011) Senthil K. Sundaram et al.   ANNALS OF NEUROLOGY

The Complement Control-Related Genes CSMD1 and CSMD2 Associate to Schizophrenia

(2011) Bjarte Håvik et al.   BIOLOGICAL PSYCHIATRY

Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

(2011) Thomas V. Fernandez et al.   BIOLOGICAL PSYCHIATRY

The Ins and Outs of GluD2—Why and How Purkinje Cells Use the Special Glutamate Receptor

(2011) Michisuke Yuzaki   CEREBELLUM

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

(2011) Julie Gauthier et al.   HUMAN GENETICS

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

(2011) Jillian P. Casey et al.   HUMAN GENETICS

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

(2011) Anna Fassio et al.   HUMAN MOLECULAR GENETICS

Identification and characterization of novel rare mutations in the planar cell polarity genePRICKLE1in human neural tube defects

(2011) Ciprian M. Bosoi et al.   HUMAN MUTATION

Genome-wide association study identifies five new schizophrenia loci

(2011)   NATURE GENETICS

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

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

(2011) Daria Salyakina et al.   PLoS One

Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua

(2011) J. D. Fryer et al.   SCIENCE

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

SFARI Gene: an evolving database for the autism research community

(2010) S. Banerjee-Basu et al.   Disease Models & Mechanisms

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

(2010) A. McKenna et al.   GENOME RESEARCH

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients

(2010) Ester Saus et al.   JOURNAL OF PSYCHIATRIC RESEARCH

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

(2010) Dalila Pinto et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder

(2010) Joseph T. Glessner et al.   PLoS One

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genetics of autism spectrum disorders

(2009) Ravinesh A. Kumar et al.   Current Neurology and Neuroscience Reports

Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset

(2009) Andreas Plaitakis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Novel copy number variants in children with autism and additional developmental anomalies

(2009) L. K. Davis et al.   Journal of Neurodevelopmental Disorders

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

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

(2009) Joseph T. Glessner et al.   NATURE

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Genetic overlap between autism, schizophrenia and bipolar disorder

(2009) Liam S Carroll et al.   Genome Medicine

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

(2008) Alexander G. Bassuk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

(2008) Mary Glancy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS