Rezultati - Ellis, Colin A.
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Cerebrospinal Fluid in Posterior Reversible Encephalopathy Syndrome: Implications of Elevated Protein and Pleocytosis od Ellis, Colin A., McClelland, Andrew C., Mohan, Suyash, Kuo, Emory, Kasner, Scott E., Zhang, Cen, Khankhanian, Pouya, Balu, Ramani
Izdano 2018Text -
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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation od Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo
Izdano 2020Text -
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Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation od Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Gonzalez, Alexander K., Felmeister, Alex S., Khankhanian, Pouya, Ellis, Colin A., Helbig, Ingo
Izdano 2020Text -
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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable od Lewis-Smith, David, Galer, Peter D., Balagura, Ganna, Kearney, Hugh, Ganesan, Shiva, Cosico, Mahgenn, O’Brien, Margaret, Vaidiswaran, Priya, Krause, Roland, Ellis, Colin A., Thomas, Rhys H., Robinson, Peter N., Helbig, Ingo
Izdano 2021Text -
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Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data od Lewis-Smith, David, Ganesan, Shiva, Galer, Peter D., Helbig, Katherine L., McKeown, Sarah E., O’Brien, Margaret, Khankhanian, Pouya, Kaufman, Michael C., Gonzalez, Alexander K., Felmeister, Alex S., Krause, Roland, Ellis, Colin A., Helbig, Ingo
Izdano 2021Text -
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Using Generalized Polyspike Train to Predict Drug-Resistant Idiopathic Generalized Epilepsy od Conrad, Erin C., Chugh, Nanak, Ganguly, Taneeta M., Gugger, James J., Tizazu, Etsegenet F., Shinohara, Russell T., Raghupathi, Ramya, Becker, Danielle A., Gelfand, Michael A., Omole, Armina T., Decker, Barbara M., Pathmanathan, Jay S., Davis, Kathryn A., Ellis, Colin A.
Izdano 2022Text -
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Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders od Crawford, Katherine, Xian, Julie, Helbig, Katherine L., Galer, Peter D., Parthasarathy, Shridhar, Lewis-Smith, David, Kaufman, Michael C., Fitch, Eryn, Ganesan, Shiva, O’Brien, Margaret, Codoni, Veronica, Ellis, Colin A., Conway, Laura J., Taylor, Deanne, Krause, Roland, Helbig, Ingo
Izdano 2021Text -
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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies od Galer, Peter D., Ganesan, Shiva, Lewis-Smith, David, McKeown, Sarah E., Pendziwiat, Manuela, Helbig, Katherine L., Ellis, Colin A., Rademacher, Annika, Smith, Lacey, Poduri, Annapurna, Seiffert, Simone, von Spiczak, Sarah, Muhle, Hiltrud, van Baalen, Andreas, Thomas, Rhys H., Krause, Roland, Weber, Yvonne, Helbig, Ingo
Izdano 2020Text -
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Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery od Oliver, Karen L., Ellis, Colin A., Scheffer, Ingrid E., Ganesan, Shiva, Leu, Costin, Sadleir, Lynette G., Heinzen, Erin L., Mefford, Heather C., Bass, Andrew J., Curtis, Sarah W., Harris, Rebekah V., Whiteman, David C., Helbig, Ingo, Ottman, Ruth, Epstein, Michael P., Bahlo, Melanie, Berkovic, Samuel F.
Izdano 2022Text -
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy od Helbig, Ingo, Lopez-Hernandez, Tania, Shor, Oded, Galer, Peter, Ganesan, Shiva, Pendziwiat, Manuela, Rademacher, Annika, Ellis, Colin A., Hümpfer, Nadja, Schwarz, Niklas, Seiffert, Simone, Peeden, Joseph, Shen, Joseph, Štěrbová, Katalin, Hammer, Trine Bjørg, Møller, Rikke S., Shinde, Deepali N., Tang, Sha, Smith, Lacey, Poduri, Annapurna, Krause, Roland, Benninger, Felix, Helbig, Katherine L., Haucke, Volker, Weber, Yvonne G.
Izdano 2019Text -
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Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing od Xie, Kevin, Gallagher, Ryan S, Conrad, Erin C, Garrick, Chadric O, Baldassano, Steven N, Bernabei, John M, Galer, Peter D, Ghosn, Nina J, Greenblatt, Adam S, Jennings, Tara, Kornspun, Alana, Kulick-Soper, Catherine V, Panchal, Jal M, Pattnaik, Akash R, Scheid, Brittany H, Wei, Danmeng, Weitzman, Micah, Muthukrishnan, Ramya, Kim, Joongwon, Litt, Brian, Ellis, Colin A, Roth, Dan
Izdano 2022Text -
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Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood od Stamberger, Hannah, Crosiers, David, Balagura, Ganna, Bonardi, Claudia M., Basu, Anna, Cantalupo, Gaetano, Chiesa, Valentina, Christensen, Jakob, Dalla Bernardina, Bernardo, Ellis, Colin A., Furia, Francesca, Gardiner, Fiona, Giron, Camille, Guerrini, Renzo, Klein, Karl Martin, Korff, Christian, Krijtova, Hana, Leffner, Melanie, Lerche, Holger, Lesca, Gaetan, Lewis-Smith, David, Marini, Carla, Marjanovic, Dragan, Mazzola, Laure, McKeown Ruggiero, Sarah, Mochel, Fanny, Ramond, Francis, Reif, Philipp S., Richard-Mornas, Aurélie, Rosenow, Felix, Schropp, Christian, Thomas, Rhys H., Vignoli, Aglaia, Weber, Yvonne, Palmer, Elizabeth, Helbig, Ingo, Scheffer, Ingrid E., Striano, Pasquale, Møller, Rikke S., Gardella, Elena, Weckhuysen, Sarah
Izdano 2022Text