An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination

(2013) Orazio Palumbo et al.   GENE

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Rare inheritedA2BP1deletion in a proband with autism and developmental hemiparesis

(2012) L.K. Davis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Expanding Role of MBD Genes in Autism: Identification of aMECP2Duplication and Novel Alterations inMBD5,MBD6, andSETDB1

(2012) Holly N. Cukier et al.   Autism Research

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

(2012) Sandesh C S Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci

(2012) Lea K Davis et al.   Molecular Autism

Common genetic variants, acting additively, are a major source of risk for autism

(2012) Lambertus Klei et al.   Molecular Autism

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

Are Sema5a mutant mice a good model of autism? A behavioral analysis of sensory systems, emotionality and cognition

(2011) Rhian K. Gunn et al.   BEHAVIOURAL BRAIN RESEARCH

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

(2011) Catherine A McCarty et al.   BMC Medical Genomics

Severe intellectual disability and autistic features associated with microduplication 2q23.1

(2011) Brian HY Chung et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

(2011) Alex S Nord et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Modeling the functional genomics of autism using human neurons

(2011) G Konopka et al.   MOLECULAR PSYCHIATRY

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Class 5 Transmembrane Semaphorins Control Selective Mammalian Retinal Lamination and Function

(2011) Ryota L. Matsuoka et al.   NEURON

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy 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

A Study of CNVs As Trait-Associated Polymorphisms and As Expression Quantitative Trait Loci

(2011) Eric R. Gamazon et al.   PLoS Genetics

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

(2010) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

(2010) Xin-Li Huang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sibling Recurrence and the Genetic Epidemiology of Autism

(2010) John N. Constantino et al.   AMERICAN JOURNAL OF PSYCHIATRY

Do common variants play a role in risk for autism? Evidence and theoretical musings

(2010) Bernie Devlin et al.   BRAIN RESEARCH

Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain

(2010) AnhThu Nguyen et al.   FASEB JOURNAL

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

(2010) A. T. Pagnamenta et al.   JOURNAL OF MEDICAL GENETICS

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

(2010) Dalila Pinto et al.   NATURE

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON

Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines

(2010) Tewarit Sarachana et al.   Genome Medicine

A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals

(2009) Brian L. Browning et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Genome-wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

(2009) Deqiong Ma et al.   ANNALS OF HUMAN GENETICS

SCAN: SNP and copy number annotation

(2009) Eric R. Gamazon et al.   BIOINFORMATICS

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

(2009) HM Ozgen et al.   CLINICAL GENETICS

Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits

(2009) Anna J. Jasinska et al.   HUMAN MOLECULAR GENETICS

Copy number variants, diseases and gene expression

(2009) C. N. Henrichsen et al.   HUMAN MOLECULAR GENETICS

Semaphorin 5A promotes angiogenesis by increasing endothelial cell proliferation, migration, and decreasing apoptosis

(2009) Anguraj Sadanandam et al.   MICROVASCULAR RESEARCH

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

A genome-wide linkage and association scan reveals novel loci for autism

(2009) Lauren A. Weiss et al.   NATURE

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

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

(2009) Joseph T. Glessner et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Segmental copy number variation shapes tissue transcriptomes

(2009) Charlotte N Henrichsen et al.   NATURE GENETICS

Gene Expression Profiling of Lymphoblasts from Autistic and Nonaffected Sib Pairs: Altered Pathways in Neuronal Development and Steroid Biosynthesis

(2009) Valerie W. Hu et al.   PLoS One

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

Genetic Architecture of Transcript-Level Variation in Humans

(2008) Shiwei Duan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evaluation of Genetic Variation Contributing to Differences in Gene Expression between Populations

(2008) Wei Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Mutations in the gene encoding CADM1 are associated with autism spectrum disorder

(2008) Yu Zhiling et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

(2008) Mary Glancy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Variations in DNA elucidate molecular networks that cause disease

(2008) Yanqing Chen et al.   NATURE

Genetics of gene expression and its effect on disease

(2008) Valur Emilsson et al.   NATURE

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

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