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Neurology|September 23, 2025
Quantitative EEG Biomarkers in the Genetic Epilepsies and Associations With Neurologic OutcomesPeter D Galer, Jillian L McKee, Sarah M Ruggiero, et al.
Medrxiv : the Preprint Server for Health Sciences|October 17, 2024
Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic OutcomesPeter D Galer, Jillian L McKee, Sarah M Ruggiero, et al.
Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
Epilepsia Open|January 10, 2023
A disease concept model for STXBP1-related disordersKatie R Sullivan, Sarah M Ruggiero, Julie Xian, et al.
Medrxiv : the Preprint Server for Health Sciences|May 22, 2023
Delineating clinical and developmental outcomes in STXBP1-related disordersJulie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.
Brain : a Journal of Neurology|November 28, 2023
Delineating clinical and developmental outcomes in STXBP1-related disordersJulie Xian, Kim Marie Thalwitzer, Jillian McKee, et al.
Medrxiv : the Preprint Server for Health Sciences|April 20, 2026
DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneityAlicia G Harrison, Shiva Ganesan, Hongbo M Xie, et al.
Communications Biology|September 18, 2023
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneuronsChad R Camp, Anna Vlachos, Chiara Klöckner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 16, 2024
Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individualsPeter D Galer, Shridhar Parthasarathy, Julie Xian, et al.
Epilepsia|March 8, 2026
Genetic testing for familial epilepsies: Diagnostic yield and genetic findingsColin A Ellis, Juliette Copeland, Isabella Velez, et al.
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