Publications
SYNGAP-1 developmental and epileptic encephalopathy: Utility of corpus callosotomy and neuromodulation
2025
Article
Link
Lessons from Henrietta Lacks inform a transparency framework to catalyze generative artificial intelligence in medicine
2025
Article
Link
Deciphering the Natural History of SCN8A-Related Disorders
2025
Article
Link
Clinical signatures of SYNGAP1-related disorders through data integration
2025
Article
Link
Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility
2025
Article
Link
Increasing Clinical Trial Participation of Black Women Diagnosed with Breast Cancer
2024
Manuscript
Link
Patient characteristics, treatment patterns, and outcomes in patients with cholangiocarcinoma
2024
Research Poster
Link
Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism
2024
Manuscript
Link
Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility
2024
Manuscript
Link
Validation and clinical discovery demonstration of breast cancer data from a real-world data extraction platform
2024
Manuscript
Link
SYNGAP1-related disorder genotype-phenotype analysis through a digital registry
2023
Research Poster
Link
A novel patient-centric longitudinal data registry platform generates insights into real-world cholangiocarcinoma (CCA) clinical practice
2023
Research Poster
Link
A Novel Relationship between Interictal Epileptiform Discharge Burden and Gross Motor Developmental Delay in SCN2A Developmental and Epileptic Encephalopathy
2023
Research Poster
Link
Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system
2023
Manuscript
Link
Delineating clinical and developmental outcomes in STXBP1-related disorders
2023
Manuscript
Link
Expanding the phenotype of CHD2-related disorders through 97,010 phenotypic annotations
2023
Research Poster
Link
Comparing phenotypes across five developmental and epileptic encephalopathies (DEEs) through evaluation of 2490 patient data years.
2022
Research Poster
Link