检索结果 - Peter D. Galer

  • Showing 1 - 9 results of 9
Refine Results
  1. 1
    Enriching representation learning using 53 million patient notes through human phenotype ontology embedding

    Enriching representation learning using 53 million patient notes through human phenotype ontology embedding 由 Maryam Daniali, Peter D. Galer, David Lewis‐Smith, Shridhar Parthasarathy, Edward Kim, Dario D. Salvucci, Jeffrey M. Miller, Scott Haag, Ingo Helbig

    出版 2023
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    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 由 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

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  3. 3
    Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic

    Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic 由 Salvatore C. Rametta, Sara Fridinger, Alexander K. Gonzalez, Julie Xian, Peter D. Galer, Michael C. Kaufman, Marisa S. Prelack, Uzma Sharif, Mark P. Fitzgerald, Susan E. Melamed, Marissa P. Malcolm, Sudha Kilaru Kessler, Donna J. Stephenson, Brenda Banwell, Nicholas S. Abend, Ingo Helbig

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  4. 4
    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 由 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

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  5. 5
    Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons

    Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons 由 Chad R. Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh, Sarah M. Ruggiero, Peter D. Galer, Kristen Park, Adam Caccavano, Sarah Kimmel, Xiaoqing Yuan, Hongjie Yuan, Ingo Helbig, Tim A. Benke, Johannes R. Lemke, Kenneth A. Pelkey, Chris J. McBain, Stephen F. Traynelis

    出版 2023
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    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 由 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

    出版 2022
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    The Human Phenotype Ontology in 2021

    The Human Phenotype Ontology in 2021 由 Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh Carmody, David Lewis‐Smith, Nicole Vasilevsky, Daniel Daniš, Ganna Balagura, Gareth Baynam, Amy Brower, Tiffany J Callahan, Christopher G. Chute, Johanna L Est, Peter D. Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Júlia Pázmándi, Marc Hanauer, Nomi L. Harris, M. J. Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongqun He, Tim Jeske, Hugh Kearney, Gerhard Kindle, Christoph Klein, Katrin Knoflach, Roland Krause, David Lagorce, Julie A. McMurry, Jillian A. Miller, Monica Muñoz‐Torres, Rebecca L. Peters, Christina Rapp, Ana Rath, Shahmir A Rind, Avi Z. Rosenberg, Michael M. Segal, Markus G. Seidel, Damian Smedley, Tomer Talmy, Yarlalu Thomas, Samuel Agyei Wiafe, Julie Xian, Zafer Yüksel, Ingo Helbig, Chris Mungall, Melissa Haendel, Peter N. Robinson

    出版 2020
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  8. 8
    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

    Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals 由 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

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    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 由 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

    出版 2019
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: