Paired-duplication signatures mark cryptic inversions and other complex structural variation.
Simons Simplex Collection
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
Increased female autosomal burden of rare copy number variants in human populations and in autism families.
Understanding the gap between cognitive abilities and daily living skills in adolescents with autism spectrum disorders with average intelligence.
Structural gray matter differences during childhood development in autism spectrum disorder: A multimetric approach.
The female protective effect in autism spectrum disorder is not mediated by a single genetic locus.
Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants.
Female autism phenotypes investigated at different levels of language and developmental abilities.
Replication of standardized ADOS domain scores in the Simons Simplex Collection.
Low load for disruptive mutations in autism genes and their biased transmission.
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