1q21.1 Microduplication expression in adults

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

(2012) Candice K. Silversides et al.   PLoS 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

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

(2011) J. Breckpot et al.   CYTOGENETIC AND GENOME 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

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

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

(2011) Rachel Soemedi et al.   HUMAN MOLECULAR GENETICS

On the sequence-directed nature of human gene mutation: The role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease

(2011) David N. Cooper et al.   HUMAN MUTATION

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

(2011) J. Y. Hehir-Kwa et al.   JOURNAL OF MEDICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia

(2011) Dheeraj Malhotra 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

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

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

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

Rare Copy Number VariantsA Point of Rarity in Genetic Risk for Bipolar Disorder and SchizophreniaRare Copy Number Variants

(2010) Detelina Grozeva   ARCHIVES OF GENERAL PSYCHIATRY

Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects

(2010) Jeroen Breckpot et al.   JOURNAL OF PEDIATRICS

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

(2010) Dalila Pinto et al.   NATURE

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization

(2010) Stefanie Weber et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Strong synaptic transmission impact by copy number variations in schizophrenia

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

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

(2009) Anna Brunet et al.   BMC Medical Genetics

Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans

(2009) Lauren A Weiss   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

(2009) L. E. L. M. Vissers et al.   JOURNAL OF MEDICAL GENETICS

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

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

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

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

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

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