Emma Sexton
A5055277823- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Connexins and lens biology
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
Boston Children's Hospital
2020-2023
Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, phenotypic spectrum STXBP1-related disorders is wide and clear correlations between variant type clinical features have not been observed so far. Here, we harmonized data across 534 individuals with analysed 19 973 derived terms, including phenotypes 253 previously unreported scientific literature. The overall landscape characterized by abnormalities 95% seizures 89%...
Importance Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, counseling. Objective To delineate the genetic landscape pediatric utility for with epilepsy. Design, Setting, Participants This cohort study used phenotypic data from medical records treating clinicians at a hospital identify unexplained pediatric-onset Exome sequencing was performed 522 available biological parents, were...
While genomic data is frequently collected under distinct research protocols and disparate clinical regimes, there a benefit in streamlining sequencing strategies to create harmonized databases, particularly the area of pediatric rare disease. Research hospitals seeking implement unified genomics workflows for practice face numerous challenges, as they need address unique requirements goals environments many stakeholders, including clinicians, researchers providers. Here, we present outcomes...