Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs

(2013) Xiaoli Chen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Investigation ofNRXN1deletions: Clinical and molecular characterization

(2013) Mindy Preston Dabell et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sex differences in autism spectrum disorders

(2013) Donna M. Werling et al.   CURRENT OPINION IN NEUROLOGY

Lis1 controls dynamics of neuronal filopodia and spines to impact synaptogenesis and social behaviour

(2013) Anamaria Sudarov et al.   EMBO Molecular Medicine

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

(2013) G. Costain et al.   HUMAN MOLECULAR GENETICS

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

(2013) Anath C. Lionel et al.   HUMAN MOLECULAR GENETICS

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

Mental health: On the spectrum

(2013) David Adam   NATURE

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation

(2013) M. Neri et al.   NEUROMUSCULAR DISORDERS

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

(2013) Maria Tropeano et al.   PLoS One

The Majority of Primate-Specific Regulatory Sequences Are Derived from Transposable Elements

(2013) Pierre-Étienne Jacques et al.   PLoS Genetics

SHANK1 Deletions in Males with Autism Spectrum Disorder

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

Highly Penetrant Alterations of a Critical Region Including BDNF in Human Psychopathology and Obesity

(2012) Carl Ernst et al.   ARCHIVES OF GENERAL PSYCHIATRY

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Consensus Paper: Pathological Role of the Cerebellum in Autism

(2012) S. Hossein Fatemi et al.   CEREBELLUM

Genetic architecture in autism spectrum disorder

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

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

(2012) Christian P Schaaf et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

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

Genome-wide association analysis identifies susceptibility loci for migraine without aura

(2012) Tobias Freilinger et al.   NATURE GENETICS

Common variants at 12q14 and 12q24 are associated with hippocampal volume

(2012) et al.   NATURE GENETICS

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

The involvement of Reelin in neurodevelopmental disorders

(2012) Timothy D. Folsom et al.   NEUROPHARMACOLOGY

Diffusion tensor imaging in attention deficit/hyperactivity disorder: A systematic review and meta-analysis

(2012) Hanneke van Ewijk et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Meta-analysis of fMRI studies of timing in attention-deficit hyperactivity disorder (ADHD)

(2012) Heledd Hart et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

Identification of Novel Low-Dose Bisphenol A Targets in Human Foreskin Fibroblast Cells Derived from Hypospadias Patients

(2012) Xian-Yang Qin et al.   PLoS One

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

(2011) Andrea K. Vaags et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

(2011) Olga Peñagarikano et al.   CELL

Pathways to Drug Development for Autism Spectrum Disorders

(2011) D R Hampson et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Risk factors for autism: translating genomic discoveries into diagnostics

(2011) Stephen W. Scherer et al.   HUMAN GENETICS

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

(2011) Julie Gauthier et al.   HUMAN GENETICS

TRIM32 promotes neural differentiation through retinoic acid receptor-mediated transcription

(2011) T. Sato et al.   JOURNAL OF CELL SCIENCE

The cerebellum and neuropsychological functioning: A critical review

(2011) Christopher J. O'Halloran et al.   JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY

The role of NrCAM in neural development and disorders—Beyond a simple glue in the brain

(2011) Takeshi Sakurai   MOLECULAR AND CELLULAR NEUROSCIENCE

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

(2011) Emma van Daalen et al.   NEUROGENETICS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy 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

Review of neuroimaging in autism spectrum disorders: what have we learned and where we go from here

(2011) Evdokia Anagnostou et al.   Molecular Autism

Rare Copy Number VariantsA Point of Rarity in Genetic Risk for Bipolar Disorder and SchizophreniaRare Copy Number Variants

(2010) Detelina Grozeva   ARCHIVES OF GENERAL PSYCHIATRY

Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

(2010) Alistair T. Pagnamenta et al.   BIOLOGICAL PSYCHIATRY

Neuregulin 1–erbB4 pathway in schizophrenia: From genes to an interactome

(2010) Anamika Banerjee et al.   BRAIN RESEARCH BULLETIN

The Kraepelinian dichotomy – going, going … but still not gone

(2010) Nick Craddock et al.   BRITISH JOURNAL OF PSYCHIATRY

Neuronal migration mechanisms in development and disease

(2010) Manuel Valiente et al.   CURRENT OPINION IN NEUROBIOLOGY

Astn2, A Novel Member of the Astrotactin Gene Family, Regulates the Trafficking of ASTN1 during Glial-Guided Neuronal Migration

(2010) P. M. Wilson et al.   JOURNAL OF NEUROSCIENCE

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

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation

(2010) Daniele Merico et al.   PLoS One

Strong synaptic transmission impact by copy number variations in schizophrenia

(2010) J. T. Glessner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder

(2010) Ke-Sheng Wang et al.   SCHIZOPHRENIA RESEARCH

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

(2010) Roberto Toro et al.   TRENDS IN 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

Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders

(2009) Björn Hofvander et al.   BMC Psychiatry

The TRIM-NHL Protein TRIM32 Activates MicroRNAs and Prevents Self-Renewal in Mouse Neural Progenitors

(2009) Jens C. Schwamborn et al.   CELL

High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?

(2009) Laura Bernardini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component

(2009) Elena Kudryashova et al.   HUMAN MOLECULAR GENETICS

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

(2009) Joseph T. Glessner et al.   NATURE

Contact in the genetics of autism and schizophrenia

(2009) J. Peter H. Burbach et al.   TRENDS IN NEUROSCIENCES

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

(2008) Terry Vrijenhoek 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

Disruption of contactin 4 in three subjects with autism spectrum disorder

(2008) J Roohi et al.   JOURNAL OF MEDICAL GENETICS

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies

(2008) Klaus-Peter Lesch et al.   JOURNAL OF NEURAL TRANSMISSION

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

(2008) Melissa B. Ramocki et al.   NATURE

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS