Damaging de novo mutations diminish motor skills in children on the autism spectrum.
Simons Simplex Collection
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
MVP: Predicting pathogenicity of missense variants by deep neural networks.
Copy number variants in people with autism spectrum disorders and co-morbid psychosis.
Elevated polygenic burden for autism is associated with differential DNA methylation at birth.
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Associations between family member BMI and obesity status of children with autism spectrum disorder.
Prediction and interpretation of deleterious coding variants in terms of protein structural stability.
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Adaptive behavior in autism: Minimal clinically important differences on the Vineland-II
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