David Báez-Nieto

Discovery of GluA3 preferring AMPA receptor positive allosteric modulator BRD3290

This study discovers BRD3290, a GluA3-preferring AMPA receptor PAM, but finds it does not improve cognitive function in mice despite target engagement.

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.

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

The paper predicts functional effects of missense variants in voltage-gated sodium and calcium channels using machine learning, achieving high accuracy in distinguishing gain and loss of function variants.