Publications

SYNGAP-1 developmental and epileptic encephalopathy: Utility of corpus callosotomy and neuromodulation

Lessons from Henrietta Lacks inform a transparency framework to catalyze generative artificial intelligence in medicine

Deciphering the Natural History of SCN8A-Related Disorders

Clinical signatures of SYNGAP1-related disorders through data integration

Autism gene variants disrupt enteric neuronmigration and cause gastrointestinaldysmotility

Increasing Clinical Trial Participation of Black Women Diagnosed with Breast Cancer

Patient characteristics, treatment patterns, and outcomes in patients with cholangiocarcinoma

Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism

Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility

Validation and clinical discovery demonstration of breast cancer data from a real-world data extraction platform

SYNGAP1-related disorder genotype-phenotype analysis through a digital registry

A novel patient-centric longitudinal data registry platform generates insights into real-world cholangiocarcinoma (CCA) clinical practice

A Novel Relationship between Interictal Epileptiform Discharge Burden and Gross Motor Developmental Delay in SCN2A Developmental and Epileptic Encephalopathy

Characterizing a rare neurogenetic disease, SLC13A5 citrate transporter disorder, utilizing clinical data in a cloud-based medical record collection system

Delineating clinical and developmental outcomes in STXBP1-related disorders

Expanding the phenotype of CHD2-related disorders through 97,010 phenotypic annotations

Comparing phenotypes across five developmental and epileptic encephalopathies (DEEs) through evaluation of 2490 patient data years.