Phan Q. Duy

An integrated multi-omic atlas of the choroid plexus highlights conserved molecular programs of epithelial function

This study integrates multi-omic data from mouse and human choroid plexus to identify conserved molecular programs of epithelial function across species.

Multicellular Spatial Programs Define the Histopathological Architecture of Meningioma

This study identifies multicellular spatial molecular programs in meningiomas using multi-omic data and develops a model to infer these programs from histopathology.

Title: The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development

This study identifies TRIM71 as essential for hearing in humans and mice, showing it regulates the timing of auditory sensory organ development and prevents premature hair cell differentiation.

Adaptive Evolution of Gene Regulatory Networks in Mammalian Neocortical Neurons

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

The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact

This review summarizes the genetic basis of hydrocephalus, including genes, pathways, and mechanisms, to highlight the complexity and global impact of its genetic contributions.

A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

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

Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants

This study shows PTEN mutations cause ventriculomegaly and cortical network dysfunction through neural precursor and interneuron dysregulation, with mTORC1 inhibition offering therapeutic potential.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

spARC Recovers Human Glioma Spatial SignalingNetworks with Graph Filtering

The paper introduces spARC, a method to recover spatial signaling networks in gliomas, revealing an Osteopontin-CD44 interaction enriched in grade IV astrocytomas.