Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism

(2012) Susan Shur-Fen Gau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Discovery of variants unmasked by hemizygous deletions

(2012) Ron Hochstenbach et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

(2012) Jeroen K J Van Houdt et al.   NATURE GENETICS

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

Pre-, peri- and neonatal risk factors for autism

(2011) VINCENT GUINCHAT et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

Autism spectrum disorders—A genetics review

(2011) Judith H Miles   GENETICS IN MEDICINE

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

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

Rare structural variation of synapse and neurotransmission genes in autism

(2011) X Gai et al.   MOLECULAR PSYCHIATRY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

(2011) Emma van Daalen et al.   NEUROGENETICS

Solving the Autism Puzzle a Few Pieces at a Time

(2011) Christian P. Schaaf et al.   NEURON

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

Copy Number Variants in Extended Autism Spectrum Disorder Families Reveal Candidates Potentially Involved in Autism Risk

(2011) Daria Salyakina et al.   PLoS One

Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

(2011) Y. Sakai et al.   Science Translational Medicine

Microdeletions of 3q29 Confer High Risk for Schizophrenia

(2010) Jennifer Gladys Mulle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review

(2010) Fabiola Quintero-Rivera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Catalina Betancur   BRAIN RESEARCH

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

(2010) William Cobb et al.   European Journal of Medical Genetics

CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment

(2009) Dianne F. Newbury et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

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

(2009) Christel Depienne et al.   BIOLOGICAL PSYCHIATRY

3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

(2009) Feng Li et al.   European Journal of Medical Genetics

E-Prostanoid 3 Receptor Deletion Improves Pulmonary Host Defense and Protects Mice from Death in Severe Streptococcus pneumoniae Infection

(2009) D. M. Aronoff et al.   JOURNAL OF IMMUNOLOGY

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

(2009) E Maestrini et al.   MOLECULAR PSYCHIATRY

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

(2009) Joseph T. Glessner et al.   NATURE

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

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

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

AutDB: a gene reference resource for autism research

(2008) Saumyendra N. Basu et al.   NUCLEIC ACIDS RESEARCH