John L.R. Rubenstein

The paper presents a model of dynamic spatial and temporal patterning in the embryonic basal ganglia, showing how progenitor movement and transcriptional changes lead to diverse neuronal subtypes.

The paper identifies distinct progenitor populations in human ganglionic eminences, their gene regulatory networks, and lineage trajectories using single-nucleus transcriptomics and spatial transcriptomics.

This study shows that loss of the autism gene Tbr1 impairs prefrontal ensemble stability and coordination during socioemotional behaviors in mice.

The paper identifies combinatorial TF-cRE interactions in mouse basal ganglia development, revealing modules that drive GABAergic neurogenesis and suppress other fates.

The paper identifies shared regulatory targets of autism-associated transcriptional regulators in brain-expressed genes and shows their functional convergence in neurodevelopmental outcomes.

This study shows that Lmo3 is required for the development of specific GPe neuronal subtypes and their connectivity in the basal ganglia.

The paper identifies a transcription factor network and enhancers involved in cortical regional patterning using mouse embryonic data.

The paper shows POGZ promotes chromatin accessibility and expression of synaptic genes in mouse and human brains, and its reduction disrupts cortical function through interactions with ADNP.

The paper quantifies developmental changes in voltage-gated sodium channel exon expression in human and mouse neocortex, identifying key splicing transitions associated with neurological disorders.

The paper develops a computational method to construct 3D atlases from 2D data, improving accuracy and reducing artifacts in mouse brain development studies.

This study identifies molecular mechanisms controlling the development of hypothalamic GABAergic neurons expressing Lhx6, showing their distinct regulatory networks compared to cortical interneurons.

The paper uses scRNA-seq and enhancer-based labeling to map neuronal lineages in embryonic mouse basal ganglia and identifies novel lineage specification paths.

The paper creates a chromatin accessibility atlas of the developing human telencephalon to identify regulatory elements and their role in gene expression and neurodevelopmental disorders.

This study shows that Nf1 deletion causes loss of parvalbumin+ cortical interneurons and reduces Lhx6 expression, affecting their development.

This study shows that loss of Tsc1 leads to PV expression and fast-spiking properties in SST+ cortical interneurons, reversible by rapamycin.

The paper compares gene expression profiles of ASD and 22 cancer types, finding shared and opposing deregulations in specific cancers and common biological pathways.

This study examines the role of noncoding variation in autism spectrum disorder using whole genome sequencing of 2,076 genomes, finding no significant association after correction for multiple testing.

The paper identifies regulatory elements and transcription factors involved in GABAergic and cholinergic neuron fate maturation during MGE development.