Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

(2012) Rui Luo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathway-based classification of cancer subtypes

(2012) Shinuk Kim et al.   Biology Direct

Blood-Based Gene Expression Signatures of Infants and Toddlers With Autism

(2012) Stephen J. Glatt et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

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

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Autism genetics: searching for specificity and convergence

(2012) Jamee M Berg et al.   GENOME BIOLOGY

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Interaction between FEZ1 and DISC1 in Regulation of Neuronal Development and Risk for Schizophrenia

(2011) Eunchai Kang 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

KEGG for integration and interpretation of large-scale molecular data sets

(2011) M. Kanehisa et al.   NUCLEIC ACIDS RESEARCH

GTI: A Novel Algorithm for Identifying Outlier Gene Expression Profiles from Integrated Microarray Datasets

(2011) John Patrick Mpindi et al.   PLoS One

Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation

(2011) Mark D. Alter et al.   PLoS One

Genetic Heterogeneity in Human Disease

(2010) Jon McClellan et al.   CELL

Defective GABAergic Neurotransmission and Pharmacological Rescue of Neuronal Hyperexcitability in the Amygdala in a Mouse Model of Fragile X Syndrome

(2010) J. L. Olmos-Serrano et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Dalila Pinto et al.   NATURE

A pathway-based classification of human breast cancer

(2010) M. L. Gatza et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered Functional Connectivity in Frontal Lobe Circuits Is Associated with Variation in the Autism Risk Gene CNTNAP2

(2010) A. A. Scott-Van Zeeland et al.   Science Translational Medicine

Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism

(2009) Valerie W. Hu et al.   Autism Research

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

(2009) Joseph T. Glessner et al.   NATURE

Mouse neurexin-1  deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments

(2009) M. R. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cancer outlier detection based on likelihood ratio test

(2008) Jianhua Hu   BIOINFORMATICS

Genomic outlier profile analysis: mixture models, null hypotheses, and nonparametric estimation

(2008) D. Ghosh et al.   BIOSTATISTICS

Altered gene expression and function of peripheral blood natural killer cells in children with autism

(2008) Amanda M. Enstrom et al.   BRAIN BEHAVIOR AND IMMUNITY

Addressing genetic heterogeneity in complex disease: Finding seizure genes in systemic lupus erythematosus

(2008) Jocelyn F. Bautista et al.   EPILEPSIA

Imbalance of Neocortical Excitation and Inhibition and Altered UP States Reflect Network Hyperexcitability in the Mouse Model of Fragile X Syndrome

(2008) Jay R. Gibson et al.   JOURNAL OF NEUROPHYSIOLOGY

Synaptic Imbalance, Stereotypies, and Impaired Social Interactions in Mice with Altered Neuroligin 2 Expression

(2008) R. M. Hines et al.   JOURNAL OF NEUROSCIENCE

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

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

Immune transcriptome alterations in the temporal cortex of subjects with autism

(2008) Krassimira Garbett et al.   NEUROBIOLOGY OF DISEASE

AutDB: a gene reference resource for autism research

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

Reactome knowledgebase of human biological pathways and processes

(2008) L. Matthews et al.   NUCLEIC ACIDS RESEARCH

Gene expression changes in children with autism

(2007) Jeffrey P. Gregg et al.   GENOMICS