Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

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

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

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

(2009) BC Ballif et al.   CLINICAL GENETICS

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

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

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

(2008) Susan L. Christian et al.   BIOLOGICAL PSYCHIATRY

Smith–Magenis syndrome

(2008) Sarah H Elsea et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

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

(2008) Blake C Ballif et al.   Molecular Cytogenetics