Resultados de procura - Ellis, Colin A.
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Cerebrospinal Fluid in Posterior Reversible Encephalopathy Syndrome: Implications of Elevated Protein and Pleocytosis por Ellis, Colin A., McClelland, Andrew C., Mohan, Suyash, Kuo, Emory, Kasner, Scott E., Zhang, Cen, Khankhanian, Pouya, Balu, Ramani
Publicado 2018Text -
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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation por 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
Publicado 2020Text -
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Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation por 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
Publicado 2020Text -
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Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable por 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
Publicado 2021Text -
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Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data por 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
Publicado 2021Text -
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Using Generalized Polyspike Train to Predict Drug-Resistant Idiopathic Generalized Epilepsy por 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.
Publicado 2022Text -
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Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders por 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
Publicado 2021Text -
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Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies por 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
Publicado 2020Text -
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Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery por 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.
Publicado 2022Text -
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy por 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.
Publicado 2019Text -
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Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing por 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
Publicado 2022Text -
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Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood por 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
Publicado 2022Text