R. Sean Hill

Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex

The paper uses somatic mutations to analyze lineage divergence in human cortical regions, finding late divergence of neuronal cell types and regional inhomogeneities in progenitor proliferation.

DeepMosaic: Control-independent mosaic single nucleotide variant detection using deep convolutional neural networks

DeepMosaic detects mosaic single nucleotide variants without control samples using deep convolutional neural networks, achieving high accuracy and uncovering many variants missed by existing methods.

Somatic mosaicism in the mature brain reveals clonal cellular distributions during cortical development

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.

Role for the Na+/K+ ATPase α 3 subunit in folding and lamination of the human neocortex

This study identifies ATP1A3 variants in children with polymicrogyria and maps ATP1A3 expression patterns in human neocortex development using single-cell RNA sequencing.