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 2020

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 2021

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 2021

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 2021

Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome

por Helbig, Ingo, Barcia, Giulia, Pendziwiat, Manuela, Ganesan, Shiva, Mueller, Stefanie H., Helbig, Katherine L., Vaidiswaran, Priya, Xian, Julie, Galer, Peter D., Afawi, Zaid, Specchio, Nicola, Kluger, Gerhard, Kuhlenbäumer, Gregor, Appenzeller, Silke, Wittig, Michael, Kramer, Uri, van Baalen, Andreas, Nabbout, Rima
Publicado 2020

Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic

por Rametta, Salvatore C., Fridinger, Sara E., Gonzalez, Alexander K., Xian, Julie, Galer, Peter D., Kaufman, Michael, Prelack, Marisa S., Sharif, Uzma, Fitzgerald, Mark P., Melamed, Susan E., Malcolm, Marissa P., Kessler, Sudha Kilaru, Stephenson, Donna J., Banwell, Brenda L., Abend, Nicholas S., Helbig, Ingo
Publicado 2020

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 2020

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 2022

The Human Phenotype Ontology in 2021

por Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N
Publicado 2020