P. Szatmari

Publications585
h-index104
Citations45,993
Highly Influential Citations2,029
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Behavioral manifestations of autism in the first year of life
TLDR
A longitudinal study of high‐risk infants, all of whom have an older sibling diagnosed with an autistic spectrum disorder, indicates that by 12 months of age, siblings who are later diagnosed with autism may be distinguished from other siblings and low‐risk controls on the basis of several specific behavioral markers.
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.
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.
The Prevalence of Anxiety and Mood Problems among Children with Autism and Asperger Syndrome
The objective of this study was to report on the prevalence and correlates of anxiety and mood problems among 9- to 14- year-old children with Asperger syndrome (AS) and high-functioning autism.…
Synaptic, transcriptional, and chromatin genes disrupted in autism
TLDR
Using exome sequencing, it is shown that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate of < 0.05, plus a set of 107 genes strongly enriched for those likely to affect risk (FDR < 0.30).
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.
Ontario Child Health Study. II. Six-month prevalence of disorder and rates of service utilization.
TLDR
The utilization data indicated that children with these psychiatric disorders, compared with children without these disorders, were almost four times more likely to have received mental health or social services in the six months preceding this study.
Early Language and Communication Development of Infants Later Diagnosed with Autism Spectrum Disorder
TLDR
It is confirmed that delays in communication and language development are apparent early in life in children with ASD, and developmental surveillance should include monitoring for delays in gesture, which may be among the earliest signs of ASD.
Contribution of SHANK3 mutations to autism spectrum disorder.
TLDR
The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.
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.
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