Phenotypic subtyping and re-analyses of existing transcriptomic data from autistic probands in simplex families reveal differentially expressed and ASD trait-associated genes.
Genetics
Neurogenetic disorders across the lifespan: From aberrant development to degeneration.
De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.
Patient brain organoids identify a link between the 16p11.2 copy number variant and the RBFOX1 gene.
Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.
Sentinel interaction mapping — a generic approach for the functional analysis of human disease gene variants using yeast.
Discordant associations of educational attainment with ASD and ADHD implicate a polygenic form of pleiotropy.
Pleiotropy between language impairment and broader behavioral disorders-an investigation of both common and rare genetic variants.
Dimensional characterizations of gender diversity are associated with higher polygenic propensity for cognitive performance in a neurodiverse sample.
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
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