Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Genetics
CHD8 dosage regulates transcription in pluripotency and early murine neural differentiation.
H-MAGMA, inheriting a shaky statistical foundation, yields excess false positives.
Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families.
Integrated metagenomic analysis of the oral microbiome in autism spectrum disorders
Enrico Domenici and colleagues aim to take advantage of the availability of whole-genome sequencing data from salivary DNA of participants in SPARK to verify the hypothesis of an altered microbiome in ASD. This proposal will extend the genetic characterization of the SPARK cohort beyond the host genome, building a framework for a systems biology view of the brain-microbiome axis in ASD.
Mutational bias and the protein code shape the evolution of splicing enhancers.
MTSplice predicts effects of genetic variants on tissue-specific splicing.
Clustering by phenotype and genome-wide association study in autism.
A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia.
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.
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