Author
Children's Hospital of PhiladelphiaORCID 0009-0008-7459-1778Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Tobias Brünger, Ilona Krey, Suyeon Kim…·Dennis Lal
The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.
Anna Jenne Prentice, Ian McSalley, Jan H. Magielski…·Ingo Helbig
This study characterizes SCN1A-related disorders using real-world data from 100 individuals over 681 patient-years, detailing seizure patterns, comorbidities, and treatment changes.
Shiva Ganesan, Sarah McKeown Ruggiero, Shridhar Parthasarathy…·Ingo Helbig
The paper analyzes 11,125 trio exomes to explore the relationship between genetic variants and phenotypic features in neurodevelopmental disorders, finding significant clinical similarities and phenotypic gradients.