Julie Xian

Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals

This study identifies clinical features preceding genetic epilepsy diagnosis in EMR data from 32,000 individuals, showing early signs can inform earlier treatment.

Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals

This study analyzes 52,143 individuals to characterize paediatric speech and language disorders, identifying genetic associations and clinical patterns.

Delineating clinical and developmental outcomes in STXBP1-related disorders

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

The genetic spectrum of febrile infection-related epilepsy syndrome (FIRES) and refractory status epilepticus

This paper analyzes the clinical and genetic landscape of FIRES and RSE, finding 36% of RSE patients have genetic causes, while FIRES remains largely undiagnosed.

A disease concept model for STXBP1-related disorders

This paper develops a disease concept model for STXBP1-related disorders by analyzing qualitative interviews to map symptoms and their impacts across clinical domains and age groups.