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): 2025

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): 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: 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: 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

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

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

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

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

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