Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders.
Genetics
A selective inference approach for false discovery rate control using multiomics covariates yields insights into disease risk.
The genetic control of stoichiometry underlying autism.
Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism.
Genome-wide detection of tandem DNA repeats that are expanded in autism.
Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers.
Identifying altered gene regulatory networks at single-cell resolution along the trajectory of brain development in autism spectrum disorders
Jingjing Li and Arnold Kriegstein aim to develop algorithms to identify mutations ablating gene regulation during brain development and to aggregate coding and noncoding variants for direct mapping onto clinical traits from personal genomes.
Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders.
Genomics at cellular resolution: Insights into cognitive disorders and their evolution.
DeepND: Deep multitask learning of gene risk for comorbid neurodevelopmental disorders.
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