Gabriel Santpere

This study shows that human olfactory epithelium cultures are mostly mesenchymal cells, not neurogenic, limiting their use for modeling neurodevelopmental disorders.

The paper compiles a large transcriptomic dataset of neocortical development and uses joint matrix decomposition to identify conserved transcriptome dynamics across mammals and developmental stages.

The paper identifies human-specific transcriptomic and regulatory features in the cerebellum, including ZP2's role in synapse development and regulation.

The paper defines the DNA-binding syntax and chromatin remodeling capacities of bHLH transcription factors across cell differentiation, reprogramming, and cancer using integrated genomic and structural data.

The temporal analysis of gene regulatory networks in human neural stem cells reveals multiple early critical phases associated with cortical disorders and neuropsychiatric traits.

The paper identifies mammalian-specific gene regulatory elements and their role in neocortical neuron subtype diversity and connectivity, linking them to neurodevelopmental disorders.

This study identifies SOX4, SOX11, and TFAP2D as critical regulators of ventropallial excitatory neuron development and PFC connectivity in mice, with conserved roles in humans.

The paper investigates the role of CAT-CAT E-boxes in neurogenesis, showing their association with chromatin accessibility, DNA demethylation, and evolutionary constraint through ChIP-seq, scRNA-seq, ATAC-seq, and DNA methylation data.

The paper characterizes the evolution of the brain N-glycome across primates, finding increased complexity and human-specific sialic acid linkage changes.

The paper uses single-cell transcriptomics to identify molecular programs in developing macaque telencephalon, revealing primate-specific signaling and gene roles in regional specification and neural stem cell fate.

The paper identifies shared transcriptome alterations across neurodegenerative and psychiatric disorders using post-mortem brain samples.

The paper provides a comprehensive gene expression profile of all 302 neurons in the C. elegans nervous system and identifies cis-regulatory elements and adhesion proteins involved in synaptic specificity.

This study maps the spatial and single-cell transcriptional landscape of human cerebellar development, revealing cell-type-specific gene expression and implications for neurological disorders.

The paper uses whole-genome and RNA sequencing from the human prefrontal cortex to identify genetic variants and transcriptomic changes associated with neurodevelopment and neuropsychiatric disorders.

This study identifies NEUROD2 mutations linked to ASD and intellectual disability, showing their role in cortical development and function through mouse models.

This study identifies retinoic acid signaling as critical for prefrontal cortex development and connectivity in primates, showing its role in molecular patterning, synaptogenesis, and evolutionary expansion.

The paper identifies molecular diversity in adult hippocampal and entorhinal cells, revealing cell-type-specific properties related to Alzheimer's disease vulnerability.

The paper identifies a multi-hit genomic architecture for ASD in consanguineous families, involving FEZF2 deletions and mutations in high-risk genes.

Transcriptomes of 52,412 neurons resolve 109 of the 118 canonical hermaphrodite neuron classes, and neuropeptide genes separate subtypes inside individual classes.