The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

(2012) Elizabeth T Cirulli et al.   GENOME BIOLOGY

Next-generation DNA sequencing-based assay for measuring allelic expression imbalance (AEI) of candidate neuropsychiatric disorder genes in human brain

(2011) Xiang Xu et al.   BMC GENOMICS

Association Between a High-Risk Autism Locus on 5p14 and Social Communication Spectrum Phenotypes in the General Population

(2010) Beate St. Pourcain et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Developmental Disabilities Across the Lifespan

(2010) Dilip R. Patel et al.   DM DISEASE-A-MONTH

Nicotinic α5 receptor subunit mRNA expression is associated with distant 5′ upstream polymorphisms

(2010) Ryan M Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Genomic Analysis of Mental Illness

(2010) Jon McClellan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A functional alternative splicing mutation in human tryptophan hydroxylase-2

(2010) X Zhang et al.   MOLECULAR PSYCHIATRY

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

(2010) Dalila Pinto et al.   NATURE

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Fragile X: Leading the way for targeted treatments in autism

(2010) Lulu W. Wang et al.   Neurotherapeutics

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Genetic Control of Human Brain Transcript Expression in Alzheimer Disease

(2009) Jennifer A. Webster 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

Copy number and sequence variants implicateAPBA2as an autism candidate gene

(2009) Timothy D. Babatz et al.   Autism Research

Common vs. rare allele hypotheses for complex diseases

(2009) Nicholas J Schork et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Genetics of autistic disorders: review and clinical implications

(2009) Christine M. Freitag et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Regulatory polymorphisms in key candidate genes for disease susceptibility and drug response: a mandate for valid genetic biomarkers

(2009) Wolfgang Sadee   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Multiple Functional Variants in cis Modulate PDYN Expression

(2009) C. C. Babbitt et al.   MOLECULAR BIOLOGY AND EVOLUTION

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

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS GENETICS

Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

(2008) Maricela Alarcón 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

A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism

(2008) Dan E. Arking et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial aggregation of quantitative autistic traits in multiplex versus simplex autism

(2008) Yamini V. Virkud et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Autism and Brain Development

(2008) Christopher A. Walsh et al.   CELL

Promoter Polymorphisms in ACE (Angiotensin I–Converting Enzyme) Associated With Clinical Outcomes in Hypertension

(2008) AD Johnson et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Familial deletion within NLGN4 associated with autism and Tourette syndrome

(2008) Amy Lawson-Yuen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Personal genomes: The case of the missing heritability

(2008) Brendan Maher   NATURE

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

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

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

Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues

(2008) Andrew D. Johnson et al.   Pharmacogenetics and Genomics

Assessing RNA quality in postmortem human brain tissue

(2007) Ia Chevyreva et al.   EXPERIMENTAL AND MOLECULAR PATHOLOGY