Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

Structural Variation in the Human Genome and its Role in Disease

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

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

(2010) Dalila Pinto et al.   NATURE

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

(2010) Y. Shen et al.   PEDIATRICS

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

(2010) A. Noor et al.   Science Translational Medicine

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

Prevalence of autism-spectrum conditions: UK school-based population study

(2009) Simon Baron-Cohen et al.   BRITISH JOURNAL OF PSYCHIATRY

Genetics of autism spectrum disorders

(2009) Ravinesh A. Kumar et al.   Current Neurology and Neuroscience Reports

Phenomic determinants of genomic variation in autism spectrum disorders

(2009) Y Qiao et al.   JOURNAL OF MEDICAL GENETICS

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

(2009) B. Thienpont et al.   JOURNAL OF MEDICAL GENETICS

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder Among Children in the US, 2007

(2009) M. D. Kogan et al.   PEDIATRICS

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

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Hypothesis: Dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders

(2008) Julie R. Jones et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

(2008) Zhong-Fa Zhang et al.   EUROPEAN JOURNAL OF HUMAN 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

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

(2008) Amber Hogart et al.   NEUROBIOLOGY OF DISEASE

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

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