Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

(2014) Vittoria Disciglio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

(2014) Mohammed Uddin et al.   NATURE GENETICS

Economic Burden of Childhood Autism Spectrum Disorders

(2014) T. A. Lavelle et al.   PEDIATRICS

Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder

(2014) Suzanne Goh et al.   JAMA Psychiatry

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

(2014) Nori Matsunami et al.   Molecular Autism

Clinical Comparison of Overlapping Deletions of 19p13.3

(2013) Hiba Risheg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A Danish population-based twin study on autism spectrum disorders

(2013) Claudia Nordenbæk et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

Whole-genome sequencing in an autism multiplex family

(2013) Lingling Shi et al.   Molecular Autism

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic architecture in autism spectrum disorder

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

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

(2012) Samantha E. Marin et al.   GENE

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

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

Molecular links between mitochondrial dysfunctions and schizophrenia

(2012) Cana Park et al.   MOLECULES AND CELLS

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

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

(2012) Joseph D. Buxbaum et al.   NEURON

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

The role of glutathione S-transferase P in signaling pathways and S-glutathionylation in cancer

(2011) Kenneth D. Tew et al.   FREE RADICAL BIOLOGY AND MEDICINE

Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism

(2011) Veronica J. Vieland et al.   Journal of Neurodevelopmental Disorders

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

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

(2011) Daria Salyakina et al.   PLoS One

The NADH-ubiquinone oxidoreductase 1 alpha subcomplex 5 (NDUFA5) gene variants are associated with autism

(2010) T. Marui et al.   ACTA PSYCHIATRICA SCANDINAVICA

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood

(2010) Paul Lichtenstein et al.   AMERICAN JOURNAL OF PSYCHIATRY

Identification and characterization of Dlc1 isoforms in the mouse and study of the biological function of a single gene trapped isoform

(2010) Mohammad G Sabbir et al.   BMC BIOLOGY

Autism and mitochondrial disease

(2010) Richard H. Haas   Developmental Disabilities Research Reviews

Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review*

(2010) VICTORIA LEGGETT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

SFARI Gene: an evolving database for the autism research community

(2010) S. Banerjee-Basu et al.   Disease Models & Mechanisms

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

A genome-wide association study of alcohol dependence

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

Genetic polymorphisms of glutathione S-transferases GSTM1, GSTT1, GSTP1 and GSTA1 as risk factors for schizophrenia

(2010) Paolo Gravina et al.   PSYCHIATRY RESEARCH

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

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neuropsychological Profile of Autism and the Broad Autism Phenotype

(2009) Molly Losh et al.   ARCHIVES OF GENERAL PSYCHIATRY

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

A high-density SNP genome-wide linkage scan in a large autism extended pedigree

(2008) K Allen-Brady et al.   MOLECULAR PSYCHIATRY

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

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