Selected Publications

McKee JL, Magielski J, Xian J, Cohen S, Toib J, Chen C, Kim D, Rathod A, Brimble E, Fitter N, Graglia JM, Helde KA, Boland MJ, Ruggiero SM, Sederman R, Helbig I.: Clinical signatures of SYNGAP1-related disorders through data integration. medRxiv (accepted to Genetics in Medicine) March 2025 Notes: doi: https://doi.org/10.1101/2024.10.02.24314452.

Magielski J, Cohen S, Kaufman M, Parthasarathy S, Xian J, Brimble E, Fitter N, Furia F, Gardella E, Moller R, Helbig I, and McKee JL. : Deciphering the dynamic clinical patterns in SCN8A-related disorders using real-world data. medRxiv (accepted to Neurology) March 2025.

Magielski J, Ruggiero SM, Xian J, Parthasarathy S, Galer P, Ganesan S, Back A, McKee J, McSalley I, Gonzalez AK, Morgan A, Donaher J, Helbig I.: The clinical and genetic spectrum of paediatric speech and language disorders in 52,143 individuals. Brain February 2025.

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 December 2024 Notes: poster.

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 December 2024 Notes: poster.

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 December 2024 Notes: poster.

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 December 2024 Notes: poster.

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 December 2024 Notes: poster.

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 December 2024 Notes: poster.

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 December 2024 Notes: poster.