Jen Q. Pan

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

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.

Loss of CACNA1G disrupts sleep rhythms and gene regulation, creating a mismatch between brain state and behavior linked to schizophrenia.

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

This study shows that CRISPR activation can rescue electrophysiological deficits in SCN2A haploinsufficiency by increasing the expression of the remaining functional allele in mice and human neurons.

The paper integrates genetic, transcriptomic, and structural data to show that Ca2+ dysregulation via ATP2B2 missense variants contributes to neuropsychiatric disorders.

This study identifies AKAP11's role in regulating lipid metabolism and neuronal support in astrocytes, linking its dysfunction to schizophrenia and bipolar disorder risk.

This study shows that SRRM2 haploinsufficiency in mice causes synaptic, splicing, and myelination defects linked to schizophrenia-like behaviors and gene expression changes.

This study replicates group-level sleep EEG differences in schizophrenia and shows increased patient-to-patient variability in NREM metrics, with medication and age-related effects contributing to this heterogeneity.

This study identifies biases in group-level EEG microstate analysis and proposes a paired analysis approach to reduce errors from subgroup topography differences.

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

The paper replicates and extends findings on EEG spectral slope variation across sleep states in a large sample, identifying factors influencing slope estimates and their relationship to sleep parameters.

This study identifies NREM sleep and wake EEG biomarkers associated with schizophrenia symptom severity and disease status.

This study examines EEG abnormalities in Grin2a and Akap11 mutant mice, finding similarities with schizophrenia patients, suggesting these mutants as models for the disorder.

The paper uses scRNA-seq to show increased transcriptional heterogeneity in neurodegenerative disease models, suggesting early regulatory imbalances.

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.