McKee JL, Magielski J, Xian J, Cohen S, Toib J, Harrison A, Chen C, Kim D, Rathod A, Brimble E, Fitter N, Graglia JM, Helde KA, Ruggiero SM, Boland MJ, Prosser BL, Sederman R, Helbig I. Clinical signatures of SYNGAP1-related disorders through data integration , Genetics in Medicine, 27(6): 2025

Mondragon E, Magielski JH, Bane B, Nolan J, Ruggiero SM, Armstrong D, Arnold S, Sirsi D, Helbig I, McKee JL. Clinical trajectories and medication response in TBC1D24-related epilepsies , Epilepsia (under review): 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 Natural History of SCN8A-Related Disorders , Neurology, 104(9): 2025

Harrison AG, Magielski JH, McSalley I, Ganesan S, Prentice AJ, Cunningham KG, Pierce SR, Boland MJ, Prosser BL, Helbig I, McKee JL. Familial SYNGAP1 variants define the boundaries of a complex neurodevelopmental disorder with epilepsy , Epilepsia: 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

Ganesan S, Ruggiero SM, Parthasarathy S, Galer PD, Lewis-Smith D, McSalley I, Cohen SR, Lusk L, Prentice AJ, McKee JL, Pendziwiat M, Smith L, Weber Y, Mefford HC, Poduri A, Helbig I. Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders , bioRxiv (submitted to Nature Neuroscience): 2025

Galer PD, McKee JL, Ruggiero SM, Kaufman MC, McSalley I, Ganesan S, Ojemann WKS, Gonzalez AK, Cao Q, Litt B, Helbig I, Conrad EC. Quantitative EEG Spectral Features Differentiate Genetic Epilepsies and Predict Neurologic Outcomes , medrxiv (accepted to Neurology): 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

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