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