Nikita Budnik

Common variation of cell abundances and gene expression in the human striatum

The paper analyzes single-nucleus RNA-seq data from the human striatum and prefrontal cortex to study inter-individual variation in cell abundances and gene expression, finding age-related changes and genetic associations.

Mesoscale molecular architecture of the human striatum across cell types and lifespan

The paper maps a mesoscale molecular architecture of the human striatum across cell types and age, revealing zonal differences in gene expression and aging effects.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders

This study analyzes 42 de novo CACNA1A missense variants in neurodevelopmental disorders, finding most alter channel function and correlate with clinical outcomes.

Differential Functional Consequences of GRIN2A Mutations Associated with Schizophrenia and Neurodevelopmental Disorders

This study investigates how different GRIN2A mutations linked to schizophrenia, epilepsy, and developmental disorders affect NMDA receptor function, revealing distinct functional consequences.