Recent publications
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
(October, 2020)
In the past, lack of a consistent framework has prevented the analysis of heterogenous clinical data in conjunction with genetic etiologies. This study synthesizes genetic findings with clinical features on a large scale, using the Human Phenotype Ontology (HPO) in order to assess clinical features and phenotypic relatedness for individuals with de novo variants in the same gene. This demonstrates that phenotype data, when made uniform, can provide statistical evidence in gene-disease relationships and reveal patterns from sparse clinical data.
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation
(August, 2020)
Childhood epilepsies have a strong genetic contribution, but the disease trajectory for many genetic etiologies remains unknown. Electronic medical record (EMR) data has the potential to allow for the analysis of longitudinal clinical information. Using tools to mine EMRs to assess individual disease histories, we can better understand and follow age-related patterns leading to a better understanding of genetic epilepsies.
Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome
(July, 2020)
While recent decades have brought new information and understanding to once poorly understood epilepsy syndromes, the cause of Febrile infection‐related epilepsy syndrome (FIRES) remains up for debate, due in part to its rarity. This study aimed to identify candidate variants related to FIRES.
Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic
(June 2020)
A new healthcare analytics pipeline that we built in response to the challenges of the telemedicine transition at the onset of the COVID-19 pandemic in March 2020 brought new opportunities to assess the rapid implementation of child neurology telehealth outpatient care.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
(May 2019)
The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders with a strong genetic contribution, but the underlying genetic etiology remains unknown in a significant proportion of individuals. Pathogenic variants in single genes do not often provide a full picture when it comes to diagnosis. We analyzed whole-exome sequencing data for potential de novo variants in the same gene across individuals and then compared phenotypic similarities by using Human Phenotype Ontology (HPO) terms in 314 individuals with DEEs.
DNM1 encephalopathy: A new disease of vesicle fission
(June 2017)
Mutations in DNM1 are associated with childhood epilepsies. Here, we evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1. We investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling to look for potentially homogeneous phenotypes amongst individuals with mutations in DNM1.