The Genetic Landscapes of Autism Spectrum Disorders

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

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism Spectrum Disorders and Autisticlike Traits

(2012) Sebastian Lundström   ARCHIVES OF GENERAL PSYCHIATRY

Global Prevalence of Autism and Other Pervasive Developmental Disorders

(2012) Mayada Elsabbagh et al.   Autism Research

Genetic architecture in autism spectrum disorder

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

Bipolar affective disorder and early dementia onset in a male patient with SHANK3 deletion

(2012) Ksenija Vucurovic et al.   European Journal of Medical Genetics

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling

(2012) M. H. Arons et al.   JOURNAL OF NEUROSCIENCE

Predicting the diagnosis of autism spectrum disorder using gene pathway analysis

(2012) E Skafidas et al.   MOLECULAR PSYCHIATRY

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

Wild-type microglia arrest pathology in a mouse model of Rett syndrome

(2012) Noël C. Derecki et al.   NATURE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won 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

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

(2012) Augustine Kong et al.   NATURE

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

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

Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation

(2012) Rafael J. Camacho-Garcia et al.   NEUROBIOLOGY OF DISEASE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

(2012) P. B. S. Celestino-Soper et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

(2012) S. J. Baudouin et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

(2012) Willem M.A. Verhoeven et al.   Neuropsychiatric Disease and Treatment

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

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

(2012) Lambertus Klei et al.   Molecular Autism

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

(2012) C Nava et al.   Translational Psychiatry

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

Behavioral profiles of mouse models for autism spectrum disorders

(2011) Elodie Ey et al.   Autism Research

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

Genetic analysis of biological pathway data through genomic randomization

(2011) Brian L. Yaspan 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

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

(2011) Simone Berkel et al.   HUMAN MOLECULAR GENETICS

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism

(2011) C M Durand et al.   MOLECULAR PSYCHIATRY

Genome-wide association studies establish that human intelligence is highly heritable and polygenic

(2011) G Davies et al.   MOLECULAR PSYCHIATRY

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça 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 copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Genome structural variation discovery and genotyping

(2011) Can Alkan et al.   NATURE REVIEWS GENETICS

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

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Variations of the Candidate SEZ6L2 Gene on Chromosome 16p11.2 in Patients with Autism Spectrum Disorders and in Human Populations

(2011) Marina Konyukh et al.   PLoS One

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

(2011) S. Jacquemont et al.   Science Translational Medicine

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

(2011) Angela M. Mabb et al.   TRENDS IN NEUROSCIENCES

Autism: A “Critical Period” Disorder?

(2011) Jocelyn J. LeBlanc et al.   NEURAL PLASTICITY

The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood

(2010) Paul Lichtenstein et al.   AMERICAN JOURNAL OF PSYCHIATRY

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

(2010) Przemyslaw Szafranski et al.   HUMAN MUTATION

A double hit implicates DIAPH3 as an autism risk gene

(2010) J A S Vorstman et al.   MOLECULAR PSYCHIATRY

A twin study of autism symptoms in Sweden

(2010) A Ronald et al.   MOLECULAR PSYCHIATRY

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

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Further characterization of the new microdeletion syndrome of 16p11.2-p12.2

(2009) Agatino Battaglia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

(2009) Christel Depienne et al.   BIOLOGICAL PSYCHIATRY

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

(2009) Nathalie Van der Aa et al.   European Journal of Medical Genetics

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

Deregulation of EIF4E: a novel mechanism for autism

(2009) M Neves-Pereira et al.   JOURNAL OF MEDICAL GENETICS

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

A genome-wide linkage and association scan reveals novel loci for autism

(2009) Lauren A. Weiss et al.   NATURE

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

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

(2009) Marwan Shinawi et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

(2009) Ravinesh A. Kumar et al.   PLoS One

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome

(2008) Merlin G. Butler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

(2008) Kathryn K. Chadman et al.   Autism Research

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

(2008) Susan L. Christian et al.   BIOLOGICAL PSYCHIATRY

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

(2008) Ilaria Napoli et al.   CELL

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of the neurexin 1 gene is associated with schizophrenia

(2008) Dan Rujescu et al.   HUMAN MOLECULAR GENETICS

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

(2008) Melissa B. Ramocki et al.   NATURE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE