Selected Publications
Decker BM, Turco A, Xu J, Terman SW, Kosaraju N, Jamil A, Davis KA, Litt B, Ellis CA, Khankhanian P, Hill CE.: Development of a natural language processing algorithm to extract seizure types and frequencies from the electronic health record Seizure 101 : 48-51,2022.
Campbell C, Leu C, Feng YA, Wolking S, Moreau C, Ellis C, Ganesan S, Martins H, Oliver K, Boothman I, Benson K, Molloy A, Brody L; Epi4K Collaborative; Genomics England Research Consortium, Michaud JL, Hamdan FF, Minassian BA, Lerche H, Scheffer IE, Sisodiya S, Girard S, Cosette P, Delanty N, Lal D, Cavalleri GL; Epi25 Collaborative.: The role of common genetic variation in presumed monogenic epilepsies. EBioMedicine 81 : 104098,2022.
Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Dalla Bernardina B, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffner M, Lerche H, Lesca G, Lewis-Smith D, Marini C, Marjanovic D, Mazzola L, McKeown Ruggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S.: Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood Neurology 99 (3): e221-e233,2022.
Oliver KL*, Ellis CA*, Scheffer IE, Ganesan S, Leu C, Sadleir LG, Heinzen EL, Mefford HC, Bass AJ, Curtis SW, Harris RV; Epi4K Consortium, Whiteman DC, Helbig I, Ottman R, Epstein MP, Bahlo M, Berkovic SF.: Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery. EBioMedicine 81 : 104079,2022.
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.: Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain 145 (5): 1668-1683,2022.
Ganguly TM, Ellis CA, Tu D, Shinohara RT, Davis KA, Litt B, Pathmanathan J.: Seizure Detection in Continuous Inpatient EEG: A Comparison of Human vs Automated Review. Neurology 98 (22): e2224-e2232.,2022.
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*.: Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing. J Am Med Inform Assoc 29 (5): 873-881,2022.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber D, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V.: De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Brain 145 (1): 208-223,2022.
Ellis CA, Ottman R: Genetic Epidemiology of Epilepsy Epilepsy – A Comprehensive Textbook, 3rd edition : 2022.
Shah YB, Lin P, Chen S, Zheng A, Alcaraz W, Towne MC, Gabriel C, Bhoj EJ, Lambert MP, Olson TS, Frank DM, Ellis CA, Babushok DV.: Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant Br J Haematol in press : 2022.
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Academic Contact Information
University of Pennsylvania
Department of Neurology
3 West Gates Building
Philadelphia,
PA
19104
Phone: 215-349-5166
Patient appointments: 800-789-7366