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Structural variation of chromosomes in autism spectrum disorder.
TLDR
The results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. Expand
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
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
Subgroup-specific structural variation across 1,000 medulloblastoma genomes
TLDR
Somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas are reported, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Groups 4, which suggest future avenues for rational, targeted therapy. Expand
Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD
TLDR
Support for a role for rare CNVs in ADHD risk is provided and evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders is reinforced. Expand
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
TLDR
The striking differences between CNV calls from different platforms and analytic tools highlight the importance of careful assessment of experimental design in discovery and association studies and of strict data curation and filtering in diagnostics. Expand
SHANK1 Deletions in Males with Autism Spectrum Disorder.
TLDR
A hemizygous SHANK1 deletion is identified that segregates in a four-generation family in which male carriers--but not female carriers--have ASD with higher functioning, and the discovery of apparent reduced penetrance of ASD in females bearing inherited autosomal SHank1 deletions provides a possible contributory model for the male gender bias in autism. Expand
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
TLDR
Among a heterogeneous sample of children with ASD, the molecular diagnostic yields of CMA and WES were comparable, and the combined molecular diagnostic yield was higher in children with more complex morphological phenotypes in comparison with the children in the essential category. Expand
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature
TLDR
The 15q13.3 microdeletion syndrome is predominantly characterized by neuropsychiatric expression, and there are implications for pre- and postnatal detection, genetic counseling, and anticipatory care. Expand
Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3
TLDR
Findings support the enrichment of large, rare CNVs in ADHD and implicate duplications at 15q13.3 as a novel risk factor for ADHD. Expand
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