Area of research
Pediatrics, Perinatology and Child Health · Cellular and Molecular Neuroscience
Research interest
Research focused on Neuroscience and Hydrocephalus, with related work in Ventriculomegaly, Exome sequencing, Neurogenesis. Notable publications include 'Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus', 'Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus', and 'Brain ventricles as windows into brain development and disease'.
Molecular hallmarks of hydrocephalus
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
Concurrent Chiari malformation type I and hydrocephalus: Integrating mechanistic and pathophysiological insights toward a unified management paradigm
The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact
<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
<i>De novo</i> variants disrupt an <i>LDB1</i> -regulated transcriptional network in congenital ventriculomegaly
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Brain ventricles as windows into brain development and disease
A neural stem cell paradigm of pediatric hydrocephalus
<i>DIAPH1</i> Variants in Non–East Asian Patients With Sporadic Moyamoya Disease
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus