Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk.
Simons Simplex Collection
Integrating causal discovery and clinically-relevant insights to explore directional relationships between autistic features, sex at birth, and cognitive abilities.
HAT: de novo variant calling for highly accurate short-read and long-read sequencing data.
Receptive language and receptive-expressive discrepancy in minimally verbal autistic children and adolescents.
Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.
Copy-number variants and polygenic risk for intelligence confer risk for autism spectrum disorder irrespective of their effects on cognitive ability.
Identifying crossovers and shared genetic material in whole genome sequencing data from families.
Categorical versus dimensional structure of autism spectrum disorder: A multi-method investigation.
Large-scale whole genome sequence analysis of >22,000 subjects provides no evidence of FMR1 premutation allele involvement in autism spectrum disorder.
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice.
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