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

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

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Nudge Ethics: Just a Game of Billiards?

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

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1q21.1 Microduplication expression in adults

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De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

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Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

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

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Parental Origin, DNA Structure, and the Schizophrenia Spectrum

(2011) Anne S. Bassett   AMERICAN JOURNAL OF PSYCHIATRY

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Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications

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Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees

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High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

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A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

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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

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

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

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Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions

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Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

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

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

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A copy number variation morbidity map of developmental delay

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

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Inference of Unexpected Genetic Relatedness among Individuals in HapMap Phase III

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

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Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease

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

(2010) Catalina Betancur   BRAIN RESEARCH

What is a meaningful result? Disclosing the results of genomic research in autism to research participants

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Clinically detectable copy number variations in a Canadian catchment population of schizophrenia

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Expanding the range of ZNF804A variants conferring risk of psychosis

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Rethinking schizophrenia

(2010) Thomas R. Insel   NATURE

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

(2010) Dalila Pinto et al.   NATURE

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

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

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Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function

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Apc1 is required for maintenance of local brain organizers and dorsal midbrain survival

(2009) Judith T.M.L. Paridaen et al.   DEVELOPMENTAL BIOLOGY

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

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Premature death in adults with 22q11.2 deletion syndrome

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Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

(2009) Matthew B. Johnson et al.   NEURON

TAM Receptor Signalling and Demyelination

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Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions

(2009) Soumya Raychaudhuri et al.   PLoS Genetics

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

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Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   HUMAN MOLECULAR GENETICS

Disruption of the neurexin 1 gene is associated with schizophrenia

(2008) Dan Rujescu et al.   HUMAN MOLECULAR GENETICS

Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease

(2008) Wai Lun Alan Fung et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

The BCL-2 protein family: opposing activities that mediate cell death

(2007) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY