André M. M. Sousa

This study uses single-nucleus multiomic sequencing to analyze gene expression and chromatin accessibility in the Down syndrome prefrontal cortex, revealing widespread dysregulation in metabolic, synaptic, and neuroinflammatory pathways.

The paper introduces STRATA, a machine learning framework that estimates cell type proportions from MRI data, validated across disease models and species.

The paper constructs a gene regulatory network resource across species and brain regions to study neurogenesis dynamics and their links to neurodevelopmental disorders.

The paper identifies genes and regulatory networks driving electrophysiological maturation of neurons in primate prefrontal cortex, with implications for autism.

The paper uses single-nucleus sequencing to identify oxidative stress and metabolic changes in Down syndrome basal forebrain neurons at birth.

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

The paper shows human-specific variants in HARE5 enhance enhancer activity, promoting progenitor proliferation and contributing to human cortical expansion.

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

Directly-reprogrammed human neurons show reduced neurite growth ability with age, mirroring rodent developmental patterns.

This study identifies SMARCC1 mutations as a cause of congenital hydrocephalus, showing they lead to neural progenitor dysfunction and a new syndrome called SaDDS.

BOMA identifies conserved and specific developmental gene expression programs between human brains and organoids at cellular resolution.

This study identifies reduced WNT signaling in Down syndrome progenitors, leading to fewer COUP-TFII+ interneurons and impaired neurogenesis.

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 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 genetic associations with cortical surface area using PCA and GWAS, linking DAAM1 to visual cortex development through mitochondrial pathways and thalamocortical input.