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

Autism gene variants disrupt enteric neuron migration and cause gastrointestinal dysmotility

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

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

Increasing Clinical Trial Participation of Black Women Diagnosed with Breast Cancer

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

Delineating clinical and developmental outcomes in STXBP1-related disorders

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

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

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

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

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