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

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

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

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

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

Genetics of autism spectrum disorders

(2011) Daniel H. Geschwind   TRENDS IN COGNITIVE SCIENCES

Copy Number Variants: A New Molecular Frontier in Clinical Psychiatry

(2011) Daniel Moreno-De-Luca et al.   Current Psychiatry Reports

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Catalina Betancur   BRAIN RESEARCH

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

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

New Copy Number Variations in Schizophrenia

(2010) Chiara Magri et al.   PLoS One

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

(2009) Christel Depienne et al.   BIOLOGICAL PSYCHIATRY

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

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

(2009) Joseph T. Glessner et al.   NATURE

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

(2008) G Bradley Schaefer et al.   GENETICS IN MEDICINE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

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

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