Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

Analysis ofCHRNA7rare variants in autism spectrum disorder susceptibility

(2015) Elena Bacchelli et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The human clinical phenotypes of altered CHRNA7 copy number

(2015) Madelyn A. Gillentine et al.   BIOCHEMICAL PHARMACOLOGY

The interaction between maternal immune activation and alpha 7 nicotinic acetylcholine receptor in regulating behaviors in the offspring

(2015) Wei-Li Wu et al.   BRAIN BEHAVIOR AND IMMUNITY

Maximizing the effect of an α7 nicotinic receptor PAM in a mouse model of schizophrenia-like sensory inhibition deficits

(2015) Karen E. Stevens et al.   BRAIN RESEARCH

The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function

(2015) Melissa L. Sinkus et al.   NEUROPHARMACOLOGY

Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development

(2015) Daniel W. Meechan et al.   PROGRESS IN NEUROBIOLOGY

Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal epilepsy

(2015) Zhi-Hong Chen et al.   Asian Pacific Journal of Tropical Medicine

Dopamine in socioecological and evolutionary perspectives: implications for psychiatric disorders

(2015) Yoshie Yamaguchi et al.   Frontiers in Neuroscience

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

(2014) Ian Blumenthal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia

(2014) K Brennand et al.   MOLECULAR PSYCHIATRY

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Novel rare variants in F-box protein 45 (FBXO45) in schizophrenia

(2014) Chenyao Wang et al.   SCHIZOPHRENIA RESEARCH

Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD

(2014) Dae-Sung Kim et al.   Frontiers in Cellular Neuroscience

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

Erratum: The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines

(2014) M Pathania et al.   Translational Psychiatry

iPSCs and small molecules: a reciprocal effort towards better approaches for drug discovery

(2013) Ru Zhang et al.   ACTA PHARMACOLOGICA SINICA

Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example

(2013) Veerle De Wolf et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion 16p13.11 uncoversNDE1mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

(2013) Alex R. Paciorkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan

(2013) Rachel K. Jonas et al.   BIOLOGICAL PSYCHIATRY

A Mouse Model that Recapitulates Cardinal Features of the 15q13.3 Microdeletion Syndrome Including Schizophrenia- and Epilepsy-Related Alterations

(2013) Kim Fejgin et al.   BIOLOGICAL PSYCHIATRY

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

(2013) Jennifer Gladys Mulle et al.   BIOLOGICAL PSYCHIATRY

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

Analysis of copy number variations at 15 schizophrenia-associated loci

(2013) Elliott Rees et al.   BRITISH JOURNAL OF PSYCHIATRY

Derepression of a Neuronal Inhibitor due to miRNA Dysregulation in a Schizophrenia-Related Microdeletion

(2013) Bin Xu et al.   CELL

Mutant Mouse Models of Autism Spectrum Disorders

(2013) Giovanni Provenzano et al.   DISEASE MARKERS

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies

(2013) Johanna A. Jähn et al.   EPILEPSY RESEARCH

Global increases in both common and rare copy number load associated with autism

(2013) Santhosh Girirajan et al.   HUMAN MOLECULAR GENETICS

The Pattern of Cortical Dysfunction in a Mouse Model of a Schizophrenia-Related Microdeletion

(2013) K. Fenelon et al.   JOURNAL OF NEUROSCIENCE

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

(2013) Andres Moreno-De-Luca et al.   LANCET NEUROLOGY

Using C. elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders

(2013) Carlos Bessa et al.   MOLECULAR NEUROBIOLOGY

Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion

(2013) J Ellegood et al.   MOLECULAR PSYCHIATRY

Evidence that duplications of 22q11.2 protect against schizophrenia

(2013) E Rees et al.   MOLECULAR PSYCHIATRY

Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders

(2013) N Hiroi et al.   MOLECULAR PSYCHIATRY

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

(2013) S. A. Mullen et al.   NEUROLOGY

Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology

(2013) Divya Mehta et al.   NEUROSCIENCE RESEARCH

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

(2013) I. Ionita-Laza et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia

(2013) Saurav Guha   JAMA Psychiatry

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

(2012) Rui Luo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic variability and commonality of neurodevelopmental disease

(2012) Bradley P. Coe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Analysis of Copy Number Variations in Brain DNA from Patients with Schizophrenia and Other Psychiatric Disorders

(2012) Tianzhang Ye et al.   BIOLOGICAL PSYCHIATRY

Regulation of synaptic functions in central nervous system by endocrine hormones and the maintenance of energy homoeostasis

(2012) Zhiping P. Pang et al.   BIOSCIENCE REPORTS

On the role of FAN1 in Fanconi anemia

(2012) J. P. Trujillo et al.   BLOOD

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype

(2012) N Hoppman-Chaney et al.   CLINICAL GENETICS

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

(2012) Jill A Rosenfeld 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

NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy

(2012) Yuwu Jiang et al.   HUMAN GENETICS

Alpha7 Nicotinic Acetylcholine Receptor Is a Target in Pharmacology and Toxicology

(2012) Miroslav Pohanka   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

(2012) Flore Zufferey et al.   JOURNAL OF MEDICAL GENETICS

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder

(2012) I Jarick et al.   MOLECULAR PSYCHIATRY

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

(2012) D Moreno-De-Luca 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

Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice

(2012) Ozlem Bozdagi et al.   PLoS One

Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome

(2012) D. W. Meechan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

(2012) Dale J Hedges et al.   Molecular Autism

Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation

(2012) Jun Nomura et al.   NEURAL PLASTICITY

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

(2011) Mehmet Bakircioglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2011) Douglas F. Levinson et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

(2011) Nigel M. Williams et al.   AMERICAN JOURNAL OF PSYCHIATRY

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

(2011) Nicole Philip et al.   BEHAVIOR GENETICS

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons

(2011) Ricardo Dolmetsch et al.   CELL

Modeling psychiatric disorders through reprogramming

(2011) K. J. Brennand et al.   Disease Models & Mechanisms

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

(2011) A. Schlattl et al.   GENOME RESEARCH

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

Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders

(2011) Silvia De Rubeis et al.   Journal of Neurodevelopmental Disorders

Evidence for altered hippocampal function in a mouse model of the human 22q11.2 microdeletion

(2011) Liam J. Drew et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder

(2011) L Priebe et al.   MOLECULAR PSYCHIATRY

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

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

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

(2011) Sébastien Jacquemont et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

Understanding the impact of 1q21.1 copy number variant

(2011) Chansonette Harvard et al.   Orphanet Journal of Rare Diseases

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

(2011) G. Horev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

From Toxins Targeting Ligand Gated Ion Channels to Therapeutic Molecules

(2011) Adak Nasiripourdori et al.   Toxins

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletions of 3q29 Confer High Risk for Schizophrenia

(2010) Jennifer Gladys Mulle et al.   AMERICAN JOURNAL OF HUMAN 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

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review

(2010) Fabiola Quintero-Rivera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Delineation of 15q13.3 microdeletions

(2010) A Masurel-Paulet et al.   CLINICAL GENETICS

Critical Role of the Src Homology 2 (SH2) Domain of Neuronal SH2B1 in the Regulation of Body Weight and Glucose Homeostasis in Mice

(2010) David L. Morris et al.   ENDOCRINOLOGY

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Penetrance for copy number variants associated with schizophrenia

(2010) E. Vassos et al.   HUMAN MOLECULAR GENETICS

The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders

(2010) Liam J. Drew et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

(2010) Nigel M Williams et al.   LANCET

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

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

(2010) Dalila Pinto et al.   NATURE

Understanding variable expressivity in microdeletion syndromes

(2010) Joris A Veltman et al.   NATURE GENETICS

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Genetically complex epilepsies, copy number variants and syndrome constellations

(2010) Heather C Mefford et al.   Genome Medicine

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

AMP-Activated Protein Kinase Phosphorylates Retinoblastoma Protein to Control Mammalian Brain Development

(2009) Biplab Dasgupta et al.   DEVELOPMENTAL CELL

Microduplication 22q11.2: A new chromosomal syndrome

(2009) Marie-France Portnoï   European Journal of Medical Genetics

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

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

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

(2009) George Kirov et al.   HUMAN MOLECULAR 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

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

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

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

(2009) Joseph T. Glessner et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

(2009) D. W. Meechan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

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

Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families

(2008) Winnie Courtens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Functional characterization of NIPA2, a selective Mg2+ transporter

(2008) Angela Goytain et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

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

(2008) Ilaria Napoli et al.   CELL

Neuropathologic Features in Adults with 22q11.2 Deletion Syndrome

(2008) T. R. Kiehl et al.   CEREBRAL CORTEX

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

(2008) Iuliana Ionita-Laza et al.   GENOMICS

Disruption of contactin 4 in three subjects with autism spectrum disorder

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

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

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

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele

(2008) Jacob A S Vorstman et al.   NEUROPSYCHOPHARMACOLOGY

NDE1 and NDEL1: Multimerisation, alternate splicing and DISC1 interaction

(2008) Nicholas J. Bradshaw et al.   NEUROSCIENCE LETTERS

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

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

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

(2008) Ignatia B. Van den Veyver et al.   PRENATAL DIAGNOSIS

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics