Author
Children's Hospital of PhiladelphiaORCID 0000-0001-7290-4939Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Abiola Harrison, Shiva Ganesan, Hongbo Michael Xie…·Ingo Helbig
The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.
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.
Donna Schaare, Laina G. Lusk, Alexis R. Karlin…·Ingo Helbig
This study examines the longitudinal course of CACNA1A-related hemiplegic migraine in children, finding unpredictable severity and timing of events with no clear correlation with epilepsy.
Jan H. Magielski, Sarah McKeown Ruggiero, Julie Xian…·Ingo Helbig
This study analyzes 52,143 individuals to characterize paediatric speech and language disorders, identifying genetic associations and clinical patterns.