Sadaf Ghorbani

The paper develops an integrative sequencing strategy to catalog NRXN1 isoforms across human brain tissues and hiPSC organoids, revealing cell-type-specific splicing patterns and therapeutic potential of ASO targeting.

This study investigates the phenotypic complexities of rare heterozygous NRXN1 deletions, showing cell-type-specific synaptic effects through LOF and GOF mechanisms, highlighting the need for precision medicine strategies.

This study identifies convergent biological pathways in mature neurons affected by neurodevelopmental disorder risk genes and shows drug candidates can ameliorate behavioral phenotypes.

The paper maps 3D chromatin structures in neuronal subtypes and shows how schizophrenia risk loci reorganize during differentiation, linking regulatory loops to gene function.