• Publications
  • Influence
Functional impact of global rare copy number variation in autism spectrum disorders
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitiveExpand
  • 1,157
  • 74
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broadenExpand
  • 1,263
  • 45
A genome-wide scan for common alleles affecting risk for autism
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identifyExpand
  • 476
  • 28
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions andExpand
  • 592
  • 27
Assessing autistic traits: cross‐cultural validation of the social responsiveness scale (SRS)
The Social Responsiveness Scale (SRS) is a quantitative measure of autistic traits in 4‐ to 18‐year‐olds, which has been used in behavior‐genetic, epidemiological and intervention studies. The USExpand
  • 262
  • 20
Premature mortality in autism spectrum disorder.
BACKGROUND Mortality has been suggested to be increased in autism spectrum disorder (ASD). AIMS To examine both all-cause and cause-specific mortality in ASD, as well as investigate moderating roleExpand
  • 216
  • 20
Individual common variants exert weak effects on the risk for autism spectrum disorders
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASDExpand
  • 300
  • 19
Functional imbalance of visual pathways indicates alternative face processing strategies in autism
Objective: To investigate whether autistic subjects show a different pattern of neural activity than healthy individuals during processing of faces and complex patterns. Methods: Blood oxygenExpand
  • 269
  • 19
Autism spectrum disorders: sex differences in autistic behaviour domains and coexisting psychopathology
The purpose of the present study was to examine possible differences between high‐functioning males and females with autism spectrum disorder (ASD) regarding the core symptoms of autism andExpand
  • 235
  • 18
The recognition of facial affect in autistic and schizophrenic subjects and their first-degree relatives.
BACKGROUND Autism and schizophrenia are considered to be substantially influenced by genetic factors. The endophenotype of both disorders probably also includes deficits in affect perception. TheExpand
  • 225
  • 16