Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort

(2016) Kyle J. Steinman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

(2016) Loyse Hippolyte et al.   BIOLOGICAL PSYCHIATRY

Obesity in adults with 22q11.2 deletion syndrome

(2016) Sarah L. Voll et al.   GENETICS IN MEDICINE

Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders

(2016) Timothy P. Rutkowski et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons

(2016) Christa W. Habela et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

A human neurodevelopmental model for Williams syndrome

(2016) Thanathom Chailangkarn et al.   NATURE

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

(2016) Christian R Marshall et al.   NATURE GENETICS

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

(2016) Tara L. Wenger et al.   Molecular Autism

7q11.23 Duplication syndrome: Physical characteristics and natural history

(2015) Colleen A. Morris et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

(2015) Ellen Hanson et al.   BIOLOGICAL PSYCHIATRY

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

(2015) Jianling Ji et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Effects of copy number variable regions on local gene expression in white blood cells of Mexican Americans

(2015) August Blackburn et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical phenotype of the recurrent 1q21.1 copy-number variant

(2015) Raphael Bernier et al.   GENETICS IN MEDICINE

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

(2015) Fátima Torres et al.   JOURNAL OF MEDICAL GENETICS

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

(2015) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology

(2015) Rebecca A. Barnard et al.   Frontiers in Neuroscience

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

ELN gene triplication responsible for familial supravalvular aortic aneurysm

(2014) Anne-Sophie Guemann et al.   CARDIOLOGY IN THE YOUNG

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

(2014) Chelsea Lowther et al.   GENETICS IN MEDICINE

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

(2014) A M Maillard et al.   MOLECULAR PSYCHIATRY

Behavioral Abnormalities and Circuit Defects in the Basal Ganglia of a Mouse Model of 16p11.2 Deletion Syndrome

(2014) Thomas Portmann et al.   Cell Reports

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

(2013) Jennifer Gladys Mulle et al.   BIOLOGICAL PSYCHIATRY

Analysis of copy number variations at 15 schizophrenia-associated loci

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

Genetic architecture of reciprocal CNVs

(2013) Christelle Golzio et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Evidence that duplications of 22q11.2 protect against schizophrenia

(2013) E Rees et al.   MOLECULAR PSYCHIATRY

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children

(2012) Alex Habel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

7q11.23 Microduplication: a recognizable phenotype

(2012) A Dixit et al.   CLINICAL GENETICS

22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature

(2012) Giulia Valvo et al.   EPILEPSY & BEHAVIOR

1q21.1 Microduplication expression in adults

(2012) Alessia Dolcetti et al.   GENETICS IN MEDICINE

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

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

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice

(2012) Ozlem Bozdagi et al.   PLoS One

Copy number variations in neurodevelopmental disorders

(2012) Hannah M. Grayton et al.   PROGRESS IN NEUROBIOLOGY

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

(2012) H. Y. Zoghbi et al.   Cold Spring Harbor Perspectives in Biology

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

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

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

Positive emotionality is associated with baseline metabolism in orbitofrontal cortex and in regions of the default network

(2011) N D Volkow et al.   MOLECULAR PSYCHIATRY

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

(2011) Sébastien Jacquemont et al.   NATURE

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

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

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

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

(2010) Anne S. Bassett et al.   AMERICAN JOURNAL OF PSYCHIATRY

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

Behavior, Brain, and Genome in Genomic Disorders: Finding the Correspondences

(2010) Elena L. Grigorenko et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Bridging the gene–behavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes

(2010) Daniel Paul Eisenberg et al.   NEUROIMAGE

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human 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

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

(2009) G. Beunders et al.   JOURNAL OF MEDICAL GENETICS

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

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

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

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

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE