Jacqueline M. Martín

Thalamic NRXN1-Mediated Input to Human Cortical Progenitors Drives Upper Layer Neurogenesis

This study shows thalamic NRXN1 signaling promotes human cortical upper-layer neurogenesis by interacting with outer radial glia.

Developmental convergence and divergence in human stem cell models of autism spectrum disorder

The paper uses hiPS cell-derived cortical organoids to study how genetic mutations in ASD converge on shared transcriptional changes during development.

TCF4 mutations disrupt synaptic function through dysregulation of RIMBP2 in patient-derived cortical neurons

This study shows TCF4 mutations impair synaptic function in patient-derived cortical neurons by disrupting RIMBP2 expression, leading to deficits in synaptic transmission and network excitability.

Using brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia

The paper uses brain cell-type-specific protein interactomes to interpret genetic data in schizophrenia and identifies enriched networks and genes associated with the disease.

Interaction studies of risk proteins in human induced neurons reveal convergent biology and novel mechanisms underlying autism spectrum disorders

The paper identifies a protein-protein interaction network in human excitatory neurons for 13 ASD risk genes, revealing novel interactions and convergent mechanisms contributing to autism spectrum disorders.

Genoppi: an open-source software for robust and standardized integration of proteomic and genetic data

Genoppi integrates proteomic and genetic data to identify cell-type-specific interactions and their role in disease.