Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

Kynurenine pathway inhibition as a therapeutic strategy for neuroprotection

(2012) Trevor W. Stone et al.   FEBS Journal

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders 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

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

(2012) Dale J Hedges et al.   Molecular Autism

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

(2011) Victoria Harrison et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

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

(2011) Bjarte Håvik et al.   BIOLOGICAL PSYCHIATRY

Deletion of LCE3C and LCE3B genes is associated with psoriasis in a northern Chinese population

(2011) L. Xu et al.   BRITISH JOURNAL OF DERMATOLOGY

Transcriptional and Nontranscriptional Functions of E2F1 in Response to DNA Damage

(2011) A. K. Biswas et al.   CANCER RESEARCH

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

(2011) Trilochan Sahoo et al.   GENETICS IN MEDICINE

Lingo2 variants associated with essential tremor and Parkinson’s disease

(2011) Yi-Wen Wu et al.   HUMAN GENETICS

Structural and Functional Analysis of Tomosyn Identifies Domains Important in Exocytotic Regulation

(2011) Antionette L. Williams et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RNF20 Inhibits TFIIS-Facilitated Transcriptional Elongation to Suppress Pro-oncogenic Gene Expression

(2011) Efrat Shema et al.   MOLECULAR CELL

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

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

(2011) Dan Levy et al.   NEURON

Ubiquitinylation of α-Synuclein by Carboxyl Terminus Hsp70-Interacting Protein (CHIP) Is Regulated by Bcl-2-Associated Athanogene 5 (BAG5)

(2011) Lorraine V. Kalia et al.   PLoS One

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

(2011) A. C. Lionel et al.   Science Translational Medicine

Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies

(2011) Özlem Yalçın   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

(2010) Catalina Betancur   BRAIN RESEARCH

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

(2010) Melanie Manning et al.   GENETICS IN MEDICINE

Tomosyn Inhibits Synaptotagmin-1-mediated Step of Ca2+-dependent Neurotransmitter Release through Its N-terminal WD40 Repeats

(2010) Yasunori Yamamoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Dalila Pinto et al.   NATURE

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

(2010) Carles Vilariño-Güell et al.   NEUROGENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain

(2010) W.-T. Kao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs

(2009) Rebecca E. Rosenberg et al.   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

Phenomic determinants of genomic variation in autism spectrum disorders

(2009) Y Qiao 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

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

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

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

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

(2009) Joseph T. Glessner et al.   NATURE

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

From Linkage Maps to Quantitative Trait Loci: The History and Science of the Utah Genetic Reference Project

(2008) Stephen M. Prescott et al.   Annual Review of Genomics and Human Genetics

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

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

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

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

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE