Showing 1 - 4 results of 4 for search 'Amy McTague', query time: 0.02s Refine Results
  1. 1
    P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

    P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study by Nicole Si Yan Liang, Gregory Costain, Alissa D'Gama, Amy McTague, Katherine Howell, Vann Chau, Sarah Mulhern, Annapurna Poduri, Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham, Tayyaba Khan, Lyndsey McRae, Kimberly Wiltrout, Robin Hayeems, Puneet Jain, Sebastian Lunke, Christian Marshall, Lyn Chitty, Shira Rockowitz, Zornitza Stark, Susan White

    Published 2024-01-01
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  2. 2
    P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

    P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines by Ali AlMail, Ahmed Jamjoom, Amy Pan, Anna Feng, Vann Chau, Alissa D'Gama, Katherine Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain

    Published 2024-01-01
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  3. 3
    Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions

    Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions by Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain

    Published 2024-04-01
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  4. 4
    International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease

    International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease by Katherine B. Howell, Susan M. White, Amy McTague, Alissa M. D’Gama, Gregory Costain, Annapurna Poduri, Ingrid E. Scheffer, Vann Chau, Lindsay D. Smith, Sarah E. M. Stephenson, Monica Wojcik, Andrew Davidson, Neil Sebire, Piotr Sliz, Alan H. Beggs, Lyn S. Chitty, Ronald D. Cohn, Christian R. Marshall, Nancy C. Andrews, Kathryn N. North, J. Helen Cross, John Christodoulou, Stephen W. Scherer

    Published 2025-02-01
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