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

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

(2012) et al.   EPILEPSIA

Gender Bias, Female Resilience, and the Sex Ratio in Autism

(2012) John N. Constantino et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Neuropathology of 16p13.11 Deletion in Epilepsy

(2012) Joan Y. W. Liu et al.   PLoS One

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

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

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

Sex differences in epigenetic mechanisms may underlie risk and resilience for mental health disorders

(2011) Heather M. Jessen et al.   Epigenetics

PKA Phosphorylation of NDE1 Is DISC1/PDE4 Dependent and Modulates Its Interaction with LIS1 and NDEL1

(2011) N. J. Bradshaw et al.   JOURNAL OF NEUROSCIENCE

Genome-wide association analysis of copy number variation in recurrent depressive disorder

(2011) J J H Rucker et al.   MOLECULAR PSYCHIATRY

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

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman 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

Why Are Autism Spectrum Conditions More Prevalent in Males?

(2011) Simon Baron-Cohen et al.   PLOS BIOLOGY

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

(2011) Shao-Qing Kuang et al.   PLoS Genetics

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

A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy

(2010) Keiko Shimojima et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Decreased Interhemispheric Functional Connectivity in Autism

(2010) J. S. Anderson et al.   CEREBRAL CORTEX

Phenotypic manifestations of copy number variation in chromosome 16p13.11

(2010) Sandesh C Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Penetrance for copy number variants associated with schizophrenia

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

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

(2010) Nigel M Williams et al.   LANCET

Differential effects of prenatal and postnatal expressions of mutant human DISC1 on neurobehavioral phenotypes in transgenic mice: evidence for neurodevelopmental origin of major psychiatric disorders

(2010) Y Ayhan et al.   MOLECULAR PSYCHIATRY

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Ohnologs in the human genome are dosage balanced and frequently associated with disease

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

Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance

(2010) Joo Wook Ahn et al.   Molecular Cytogenetics

MLPA for confirmation of array CGH results and determination of inheritance

(2010) Alison Hills et al.   Molecular Cytogenetics

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

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

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Copy Number Variation in Schizophrenia in the Japanese Population

(2009) Masashi Ikeda et al.   BIOLOGICAL PSYCHIATRY

The pitfalls of platform comparison: DNA copy number array technologies assessed

(2009) Christina Curtis et al.   BMC GENOMICS

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

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

Further evidence that some male-based neurodevelopmental disorders are associated with high intrauterine testosterone concentrations

(2009) William H James   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

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

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

(2009) A Ingason et al.   MOLECULAR PSYCHIATRY

The complex relationship of gene duplication and essentiality

(2009) Takashi Makino et al.   TRENDS IN GENETICS

DISC1, PDE4B, and NDE1 at the centrosome and synapse

(2008) Nicholas J. Bradshaw et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Schizophrenia: A Concise Overview of Incidence, Prevalence, and Mortality

(2008) J. McGrath et al.   EPIDEMIOLOGIC REVIEWS

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

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Phenotypic variations on the theme of CNVs

(2008) Michael C O'Donovan et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Sex-specific genetic architecture of human disease

(2008) Carole Ober et al.   NATURE REVIEWS GENETICS

Reduced interhemispheric connectivity in schizophrenia-tractography based segmentation of the corpus callosum

(2008) M KUBICKI et al.   SCHIZOPHRENIA RESEARCH