Early measurement of autism risk constructs in the general population: A new factor structure of the First Years Inventory (FYIv3.1) for ages 6–16 months
Sign Up to like & getrecommendations! Published in 2022 at "Autism Research"
DOI: 10.1002/aur.2691
Abstract: Early detection of autism risk in the community is critical to increasing families' access to early intervention, yet few measures have been developed and tested for the general population of infants read more here.
Keywords: autism; general population; factor; risk ... See more keywords
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02356-2
Abstract: Whole-exome and whole-genome sequencing studies in autism spectrum disorder (ASD) have identified hundreds of thousands of exonic variants. Only a handful of them, primarily loss-of-function variants, have been shown to increase the risk for ASD,… read more here.
Keywords: novo autism; risk; gene variant; autism risk ... See more keywords
Predicting Autism Risk in Infancy.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the American Academy of Child and Adolescent Psychiatry"
DOI: 10.1016/j.jaac.2020.07.910
Abstract: By definition, autism spectrum disorder (ASD) emerges during early childhood. However, despite longstanding recommendations for earlier identification and intervention, there has been relatively slow progress in lowering the average age of diagnosis and enrollment in… read more here.
Keywords: risk; autism risk; autism; risk infancy ... See more keywords
Autism risk in offspring can be assessed through quantification of male sperm mosaicism
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DOI: 10.1038/s41591-019-0711-0
Abstract: De novo mutations arising on the paternal chromosome make the largest known contribution to autism risk, and correlate with paternal age at the time of conception. The recurrence risk for autism spectrum disorders is substantial,… read more here.
Keywords: risk; autism risk; autism; sperm mosaicism ... See more keywords
Prioritizing Autism Risk Genes Using Personalized Graphical Models Estimated From Single-Cell RNA-seq Data
Sign Up to like & getrecommendations! Published in 2021 at "Journal of the American Statistical Association"
DOI: 10.1080/01621459.2021.1933495
Abstract: Abstract Hundreds of autism risk genes have been reported recently, mainly based on genetic studies where these risk genes have more de novo mutations in autism subjects than healthy controls. However, as a complex disease,… read more here.
Keywords: risk genes; seq data; autism risk; autism ... See more keywords