Sökresultat - Colin A. Ellis

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  1. 1
    Timing is everything: Where status epilepticus treatment fails

    Timing is everything: Where status epilepticus treatment fails av Chloé E. Hill, Alomi O. Parikh, Colin A. Ellis, Jennifer S. Myers, Brian Litt

    Publicerad 2017
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  2. 2
    Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies

    Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies av Colin A. Ellis, Ruth Ottman, Michael P. Epstein, Samuel F. Berkovic, Karen Oliver

    Publicerad 2025
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  3. 3
    Long‐term epilepsy outcome dynamics revealed by natural language processing of clinic notes

    Long‐term epilepsy outcome dynamics revealed by natural language processing of clinic notes av Kevin Xie, Ryan S. Gallagher, Russell T. Shinohara, Sharon X. Xie, Chloé E. Hill, Erin C. Conrad, Kathryn A. Davis, Dan Roth, Brian Litt, Colin A. Ellis

    Publicerad 2023
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  4. 4
    Disparities in seizure outcomes revealed by large language models

    Disparities in seizure outcomes revealed by large language models av Kevin Xie, William K.S. Ojemann, Ryan S. Gallagher, Russell T. Shinohara, Alfredo Lucas, Chloé E. Hill, Roy H. Hamilton, Kevin B. Johnson, Dan Roth, Brian Litt, Colin A. Ellis

    Publicerad 2024
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  5. 5
    Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

    Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders av Katherine Crawford, Julie Xian, Katherine L. Helbig, Peter D. Galer, Shridhar Parthasarathy, David Lewis‐Smith, Michael C. Kaufman, Eryn Fitch, Shiva Ganesan, Margaret O’Brien, Veronica Codoni, Colin A. Ellis, Laura Conway, Deanne Taylor, Roland Krause, Ingo Helbig

    Publicerad 2021
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  6. 6
    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

    Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies av Peter D. Galer, Shiva Ganesan, David Lewis‐Smith, Sarah McKeown, Manuela Pendziwiat, Katherine L. Helbig, Colin A. Ellis, Annika Rademacher, Lacey Smith, Annapurna Poduri, Simone Seiffert, Sarah von Spiczak, Hiltrud Muhle, Andreas van Baalen, Rhys H. Thomas, Roland Krause, Yvonne G. Weber, Ingo Helbig

    Publicerad 2020
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  7. 7
    Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing

    Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing av Kevin Xie, Ryan S. Gallagher, Erin C. Conrad, Chadric O Garrick, Steven N. Baldassano, John M. Bernabei, Peter D. Galer, Nina J Ghosn, Adam Greenblatt, Tara Jennings, Alana Kornspun, Catherine V. Kulick‐Soper, Jal M Panchal, Akash R. Pattnaik, Brittany H. Scheid, Danmeng Wei, Micah Weitzman, Ramya Muthukrishnan, Joongwon Kim, Brian Litt, Colin A. Ellis, Dan Roth

    Publicerad 2022
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  8. 8
    The role of common genetic variation in presumed monogenic epilepsies

    The role of common genetic variation in presumed monogenic epilepsies av Ciarán Campbell, Costin Leu, Yen‐Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin A. Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine A. Benson, Anne M. Molloy, Lawrence C. Brody, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay M. Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri

    Publicerad 2022
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  9. 9
    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

    Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood av Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtová, Melanie Leffler, Holger Lerche, Gaëtan Lesca, David Lewis‐Smith, Carla Marini, Dragan Marjanović, Laure Mazzola, Sarah M. Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne G. Weber, Elizabeth E. Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen

    Publicerad 2022
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  10. 10
    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals av Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig, Jing Gan, Shiva Ganesan, Michael C. Kaufman, Colin A. Ellis, David Lewis‐Smith, Peter D. Galer, Kristin Cunningham, Margaret O’Brien, Mahgenn Cosico, Kate Baker, Alejandra Darling, Fernanda Veiga de Góes, Christelle Moufawad El Achkar, Jan H Doering, Francesca Furia, Ángeles García‐Cazorla, Elena Gardella, Lisa Geertjens, Courtney Klein, Anna Kolesnik, Hanna C. A. Lammertse, Jeehun Lee, Alexandra T. Mackie, Mala Misra‐Isrie, Heather E. Olson, Emma Sexton, Beth Rosen Sheidley, Lacey Smith, Luiza Sotero, Hannah Stamberger, Steffen Syrbe, Kim Marie Thalwitzer, Annemiek van Berkel, Mieke M. van Haelst, Christopher J. Yuskaitis, Sarah Weckhuysen, Benjamin L. Prosser, Charlene Son Rigby, Scott Demarest, Samuel R. Pierce, Yuehua Zhang, Rikke S. Møller, Hilgo Bruining, Annapurna Poduri, Federico Zara, Matthijs Verhage, Pasquale Striano, Ingo Helbig

    Publicerad 2021
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  11. 11
    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

    A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy av Ingo Helbig, Tania López-Hernández, Oded Shor, Peter D. Galer, Shiva Ganesan, Manuela Pendziwiat, Annika Rademacher, Colin A. Ellis, Nadja Hümpfer, Niklas Schwarz, Simone Seiffert, Joseph Peeden, Joseph Shen, Katalin Štěrbová, Trine Bjørg Hammer, Rikke S. Møller, Deepali N. Shinde, Sha Tang, Lacey Smith, Annapurna Poduri, Roland Krause, Felix Benninger, Katherine L. Helbig, Volker Haucke, Yvonne G. Weber, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Vladimı́r Komárek, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Tarja Linnankivi, Carla Marini, Patrick May, Hiltrud Muhle, Deb K. Pal, Aarno Palotie, Felix Rosenow, Susanne Schubert‐Bast, Kaja Kristine Selmer, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Arvid Suls, Tiina Talvik, Sarah von Spiczak, Sarah Weckhuysen, Federico Zara, Paul Avillach, Anna Bartels, Sawona Biswas, Florence T. Bourgeois, Batsal Devkota, Tracy A. Glauser, Barbara Hallinan, Allison P. Heath, Joel N. Hirschhorn, Judson Kilbourn, Sek Won Kong, Ian D. Krantz, In‐Hee Lee, Kenneth D. Mandl, Eric D. Marsh, Kristen L. Sund, Deanne Taylor, Peter S. White

    Publicerad 2019
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  12. 12
    GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

    GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture av Remi Stevelink, Ciarán Campbell, Siwei Chen, Bassel Abou‐Khalil, Oluyomi M. Adesoji, Zaid Afawi, Elisabetta Amadori, Alison Anderson, Joseph Anderson, Danielle M. Andrade, Grazia Annesi, Pauls Auce, Andreja Avberšek, Melanie Bahlo, Mark D. Baker, Ganna Balagura, Simona Balestrini, Carmen Barba, Karen Barboza, Fabrice Bartoloméi, Thomas Bast, Larry Baum, Tobias Baumgartner, Betül Baykan, Nerses Bebek, Albert J. Becker, Felicitas Becker, Caitlin A. Bennett, Bianca Berghuis, Samuel F. Berkovic, Ahmad Beydoun, Claudia Bianchini, Francesca Bisulli, Ilan Blatt, Dheeraj Reddy Bobbili, Ingo Borggraefe, Christian M. Boßelmann, Vera Braatz, Jonathan P. Bradfield, Knut Brockmann, Lawrence C. Brody, Russell J. Buono, Robyn M. Busch, Hande Çağlayan, Ellen Campbell, Laura Canafoglia, Christina Canavati, Gregory D. Cascino, Barbara Castellotti, Claudia B. Catarino, Gianpiero L. Cavalleri, Felecia Cerrato, Francine Chassoux, Stacey S. Cherny, Ching‐Lung Cheung, Krishna Chinthapalli, I-Jun Chou, Seo‐Kyung Chung, Tracy Air, Peggy O. Clark, Andrew J. Cole, Alastair Compston, Antonietta Coppola, Mahgenn Cosico, Patrick Cossette, John Craig, Caroline Cusick, Mark J. Daly, Lea K. Davis, Gerrit‐Jan de Haan, Norman Delanty, Chantal Depondt, Philippe Derambure, Orrin Devinsky, Lidia Di Vito, Dennis Dlugos, Viola Doccini, Colin P. Doherty, Hany El‐Naggar, Christian E. Elger, Colin A. Ellis, Johan G. Eriksson, Annika Faucon, Yen‐Chen Anne Feng, Lisa Ferguson, Thomas N. Ferraro, Lorenzo Ferri, Martha Feucht, Mark P. Fitzgerald, Beata Fonferko‐Shadrach, Francesco Fortunato, Silvana Franceschetti, Andre Franke, Jacqueline A. French, Elena Freri, Monica Gagliardi, Antonio Gambardella, Eric B. Geller, Tania Giangregorio, Leif Gjerstad

    Publicerad 2023
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