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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
TLDR
It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. Expand
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Many studies have supported a genetic etiology for autism. Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders. TheseExpand
Functional impact of global rare copy number variation in autism spectrum disorders
TLDR
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways. Expand
Promoting social behavior with oxytocin in high-functioning autism spectrum disorders
TLDR
It is found that after oxytocin inhalation, patients exhibited stronger interactions with the most socially cooperative partner and reported enhanced feelings of trust and preference, suggesting a therapeutic potential of Oxytocin through its action on a core dimension of autism. Expand
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
TLDR
Linkage and copy number variation analyses implicate chromosome 11p12–p13 and neurexins, respectively, among other candidate loci, highlighting glutamate-related genes as promising candidates for contributing to ASDs. Expand
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders
TLDR
The clinical psychiatric presentation and important outcome measures of a large group of normal-intelligence adult patients with ASDs, characterized by impaired social interaction and non-verbal communication in adulthood as well as in childhood, are described. Expand
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
TLDR
Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders. Expand
A genome-wide scan for common alleles affecting risk for autism
TLDR
In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller. Expand
Diagnosing Autism: Analyses of Data from the Autism Diagnostic Interview
TLDR
A single set of criteria, as operationalized by individually structured questions in the ADI/ADI-R, was effective in differentiating autism from mental handicap and language impairment in subjects with a range of chronological ages and developmental levels. Expand
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
TLDR
Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation and were overrepresented among subjects with fragile X syndrome protein targets. Expand
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