Selected Publications
Pierce S, Cunningham K, Coyne J, Decampo D, Demarest S, Graglia M, Goss J, Harrison A, Helde K, McKee JL, Son Rigby C, Sullivan K, Tefft S, Chao HT, Grinspan Z, Miele A, Boland M, Ruggerio S, Helbig I: STXBP1 and SYNGAP1 Related Disorders: Assessing the Feasibility of Developmental Outcome Measures AES, Los Angeles, CA : 2024.
Magielski J, Cohen S, Kaufman M, Parthasarathy S, Xian J, Brimble E, Fitter N, Helbig I, McKee JL: Characterizing the Longitudinal Clinical Landscape of SCN8A-related Disorders AES, Los Angeles, CA : 2024.
Ruggerio S, Pierce S, Cunningham K, Coyne J, Chisari T, Kaufman M, Magielski J, Decampo D, Glatts C, Kruger H, McCarthy M, McKee JL, Mercurio J, Padmanabhan V, Sullivan K, Tefft S, Thalwitzer K, Vaidiswaran P, Xian J, Chao HT, Demarest S, Grinspan Z, Miele A, Goss J, Son Rigby C, Prosser B, Boland M, Helbig I: STXBP1-Related Disorder: Prospective Natural History and Reconstruction AES, Los Angeles, CA : 2024.
Galer P, McKee JL, Ruggerio S, Kaufman M, Mcsalley I, Ganesan S, Ojemann W, Pattnaik A, Gonzalez A, Litt B, Helbig I, Conrad E: Genetic Epilepsies Demonstrate Distinct Electrographic Signatures in STXBP1, SCN1A, and SYNGAP1 AES, Los Angeles, CA : 2024.
Mercurio J, Prentice A, Tefft S, Kaufman M, Magielski J, Cohen S, McKee JL, Ruggerio S, Pillai A, McGarry L, Goldberg EM, Helbig I: Harmonizing Reconstructed Longitudinal Clinical and Genomic Data for SCN1A-Related Disorders AES, Los Angeles, CA : 2024.
Wulsin A, McKee JL, Magielski J, Ruggerio S, Krueger DA, Helbig I: Genotype-Phenotype Correlations in Tuberous Sclerosis-Related Epilepsy: A Study of Patients with TSC2 Variants Using Reconstructed Medical Records AES, Los Angeles, CA : 2024.
Virkler A, McKee JL, Magielski J, Kaufman M, Helbig I, Kennedy BC: Assessing the Impact of Corpus Callosotomy in Pediatric Epilepsy AES, Los Angeles, CA : 2024.
McKee JL, Tefft S, Toib J, Ruggerio S, Coyne J, Pierce S, Cunningham K, Harrison A, Cohen S, Sullivan K, Kaufman M, Magielski J, Decampo D, Glatts C, Kruger H, McCarthy M, Mercurio J, Padmanabhan V, Vaidiswaran P, Graglia M, Helde K, Boland M, Helbig I: Delineating the Natural History of SYNGAP1-related Disorders AES, Los Angeles, CA : 2024.
Galer, Peter D., Parthasarathy, Shridhar, Xian, Julie, McKee, Jillian L., Ruggiero, Sarah M., Ganesan, Shiva, Lewis-Smith, David, Kaufman, Michael C., Cohen, Stacey R., Haag, Scott, Gonzalez, Alexander K., Wilmarth, Olivia, Ellis, Colin A., Litt, Brian, Helbig, Ingo: Clinical signatures of genetic epilepsy precede diagnosis in electronic medical records of 32,000 individuals Genetics in Medicine 26 (11): 2024.
Magielski J, McSalley I, Parthasarathy S, McKee J, Ganesan S, Helbig I.: Advances in big data and omics: Paving the way for discovery in childhood epilepsies Curr Probl Pediatr Adolesc Health Care 54 (8): 2024.
Academic Contact Information
The HUB Center for Clinical Collaboration
Children's Hospital of Philadelphia
3500 Civic Center Blvd
Philadelphia,
PA
19104
Patient appointments: 800-789-7366