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Artificial intelligence in epilepsy phenotyping.
Knight A, Gschwind T, Galer P, Worrell GA, Litt B, Soltesz I, Beniczky S. Knight A, et al. Among authors: galer p. Epilepsia. 2023 Nov 20. doi: 10.1111/epi.17833. Online ahead of print. Epilepsia. 2023. PMID: 37983589
Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing.
Xie K, Gallagher RS, Conrad EC, Garrick CO, Baldassano SN, Bernabei JM, Galer PD, Ghosn NJ, Greenblatt AS, Jennings T, Kornspun A, Kulick-Soper CV, Panchal JM, Pattnaik AR, Scheid BH, Wei D, Weitzman M, Muthukrishnan R, Kim J, Litt B, Ellis CA, Roth D. Xie K, et al. Among authors: galer pd. J Am Med Inform Assoc. 2022 Apr 13;29(5):873-881. doi: 10.1093/jamia/ocac018. J Am Med Inform Assoc. 2022. PMID: 35190834 Free PMC article.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: galer p. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.
Helbig I, Lopez-Hernandez T, Shor O, Galer P, Ganesan S, Pendziwiat M, Rademacher A, Ellis CA, Hümpfer N, Schwarz N, Seiffert S, Peeden J, Shen J, Štěrbová K, Hammer TB, Møller RS, Shinde DN, Tang S, Smith L, Poduri A, Krause R, Benninger F, Helbig KL, Haucke V, Weber YG; EuroEPINOMICS-RES Consortium; GRIN Consortium. Helbig I, et al. Among authors: galer p. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16. Am J Hum Genet. 2019. PMID: 31104773 Free PMC article.
Visits of concern in child neurology telemedicine.
Prelack M, Fridinger S, Gonzalez AK, Kaufman MC, Xian J, Galer PD, Craig S, Abend NS, Helbig I; CHOP Neuroscience Center - VOC Research Group*. Prelack M, et al. Among authors: galer pd. Dev Med Child Neurol. 2022 Nov;64(11):1351-1358. doi: 10.1111/dmcn.15256. Epub 2022 May 5. Dev Med Child Neurol. 2022. PMID: 35514061 Free PMC article.
28 results