Scott Norton

The paper identifies 46,802 enhancers and 164 psychiatric disorder variants with regulatory effects in the developing cortex and organoids using massively parallel reporter assays and deep learning.

The paper uses MPRA in forebrain organoids to validate enhancer activity in early human neurodevelopment, identifying over 2,300 enhancers with temporal-specific activity.

The paper constructs an enhancer-driven gene regulatory network from human forebrain organoids with ASD and neurotypical controls, identifying key regulators of excitatory neuron specification in macrocephalic ASD.

The paper introduces MAJIQ v2, a tool for analyzing RNA splicing in large and heterogeneous RNA-seq datasets, showing improved performance over existing methods and applying it to brain subregion-specific splicing analysis.

The paper models ASD in organoids and finds transcriptomic imbalances in excitatory cortical neuron subtypes during early neurogenesis in ASD probands.

The paper critiques Li et al.'s comparative analysis of splicing detection tools, highlighting issues with the representation of MAJIQ and rMATS.

The paper develops a probability model to detect outlier RNA-Seq samples for improved differential splicing analysis, showing it outperforms existing tools in identifying inconsistent replicates.