Resultats de la cerca - Matthew Might

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  1. 1
    The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated

    The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated per Matthew Might, Matt Wilsey

    Publicat 2014
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  2. 2
    Why rare disease needs precision medicine—and precision medicine needs rare disease

    Why rare disease needs precision medicine—and precision medicine needs rare disease per Matthew Might, Andrew B. Crouse

    Publicat 2022
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  3. 3
    Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo -β- N -acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease

    Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo -β- N -acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare gene... per Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan

    Publicat 2017
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  4. 4
    Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches

    Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches per Katie G Owings, Josh Lowry, Yiling Bi, Matthew Might, Clement Y. Chow

    Publicat 2018
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  5. 5
    METFORMIN USE IS ASSOCIATED WITH REDUCED MORTALITY IN A DIVERSE POPULATION WITH COVID-19 AND DIABETES

    METFORMIN USE IS ASSOCIATED WITH REDUCED MORTALITY IN A DIVERSE POPULATION WITH COVID-19 AND DIABETES per Andrew B. Crouse, Tiffany Grimes, Peng Li, Matthew Might, Fernando Ovalle, Anath Shalev

    Publicat 2020
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  6. 6
    Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes

    Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes per Andrew B. Crouse, Tiffany Grimes, Peng Li, Matthew Might, Fernando Ovalle, Anath Shalev

    Publicat 2021
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  7. 7
    Induced pluripotent stem cells for neural drug discovery

    Induced pluripotent stem cells for neural drug discovery per Atena Farkhondeh, Rong Li, Kirill Gorshkov, Kevin G. Chen, Matthew Might, Steven Rodems, Donald C. Lo, Wei Zheng

    Publicat 2019
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  8. 8
    Characteristics and determinants of pulmonary long COVID

    Characteristics and determinants of pulmonary long COVID per Michael J. Patton, D. Benson, Sarah W. Robison, Dhaval Raval, Morgan L. Locy, Kinner Patel, S. Grumley, Emily B. Levitan, Peter W. G. Morris, Matthew Might, Amit Gaggar, Nathaniel Erdmann

    Publicat 2024
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  9. 9
    The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren

    The precision medicine process for treating rare disease using the artificial intelligence tool mediKanren per Aleksandra Foksinska, Camerron M. Crowder, Andrew B. Crouse, Jeff Henrikson, William E. Byrd, Gregory Rosenblatt, Michael J. Patton, Kaiwen He, Thi K. Tran-Nguyen, Marissa Zheng, Stephen A. Ramsey, Nada Amin, John D. Osborne, Matthew Might

    Publicat 2022
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  10. 10
    Are we prepared to deliver gene‐targeted therapies for rare diseases?

    Are we prepared to deliver gene‐targeted therapies for rare diseases? per Timothy W. Yu, Stephen F. Kingsmore, Robert C. Green, Tippi C. MacKenzie, Melissa Wasserstein, Michele Caggana, Nina B. Gold, Annie Kennedy, Priya S. Kishnani, Matthew Might, Philip J. Brooks, Jill A. Morris, Melissa A. Parisi, Tiina K. Urv

    Publicat 2023
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  11. 11
    COVID-19 bacteremic co-infection is a major risk factor for mortality, ICU admission, and mechanical ventilation

    COVID-19 bacteremic co-infection is a major risk factor for mortality, ICU admission, and mechanical ventilation per Michael J. Patton, Carlos J. Orihuela, Kevin S. Harrod, Mohammad Alfrad Nobel Bhuiyan, Paari Dominic, Christopher G. Kevil, Daniel Fort, Jean‐Louis Vincent, Maha Farhat, Jonathan L. Koff, Charitharth Vivek Lal, Anuj Gaggar, Robert P. Richter, Nathaniel Erdmann, Matthew Might, Amit Gaggar

    Publicat 2023
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  12. 12
    Circulating SARS-CoV-2+ megakaryocytes are associated with severe viral infection in COVID-19

    Circulating SARS-CoV-2+ megakaryocytes are associated with severe viral infection in COVID-19 per Seth D. Fortmann, Michael J. Patton, Blake Frey, Jennifer L. Tipper, Sivani B. Reddy, Cristiano Pedrozo Vieira, Vidya Sagar Hanumanthu, Sarah Sterrett, Jason L. Floyd, Ram Prasad, Jeremy Zucker, Andrew B. Crouse, Forest Huls, Rati Chkheidze, Peng Li, Nathaniel Erdmann, Kevin S. Harrod, Amit Gaggar, Paul Goepfert, Maria B. Grant, Matthew Might

    Publicat 2023
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  13. 13
    The case for open science: rare diseases

    The case for open science: rare diseases per Yaffa Rubinstein, Peter N. Robinson, William A. Gahl, Paul Avillach, Gareth Baynam, Helene Cederroth, Rebecca Goodwin, Stephen C. Groft, Mats Hansson, Nomi L. Harris, Vojtech Huser, Deborah Mascalzoni, Julie A. McMurry, Matthew Might, Christoffer Nellåker, Barend Mons, Dina N. Paltoo, Jonathan Pevsner, Manuel Posada de la Paz, Alison P Rockett-Frase, Marco Roos, Tamar B. Rubinstein, Domenica Taruscio, David van Enckevort, Melissa Haendel

    Publicat 2020
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  14. 14
    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype per Vandana Shashi, Loren D.M. Peña, Katherine Kim, Barbara K. Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine Shuss, Michael Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine A. El-Dairi, Megan W. Butler, Peter G. Kranz, Constance T. R. M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, René Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietiläinen, Aarno Palotie, Mitja Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortüm, A. Bacino, Brendan Lee, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Mahim Jain, Seema R. Lalani, Richard A. Lewis, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Neil A. Hanchard, Tran A. Alyssa, Alejandro E. Mercedes, Azamian S. Mashid, Hugo J. Bellen, Shinya Yamamoto, Michael F. Wangler, Monte Westerfield, John H. Postlethwait, Christine M. Eng, Yaping Yang, Donna M. Muzny, Patricia A. Ward, Rachel Ramoni, Alexa T. McCray, Issac S. Kohane, Ingrid A. Holm, Matthew Might, Paul Mazur, Kimberly Splinter, Cecilia Esteves, Vandana Shashi, Yong‐hui Jiang, Loren D.M. Peña, Allyn McConkie‐Rosell, Kelly Schoch, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, David B. Goldstein, Nicholas Stong, Alan H. Beggs, Joseph Loscalzo, Calum A. MacRae, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Richard L. Maas, Joel B. Krier, Lance H. Rodan, Chris A. Walsh, Cynthia M. Cooper, J. Carl Pallais, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Sharyn A. Lincoln, Lauren C. Briere

    Publicat 2016
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  15. 15
    Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

    Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases per Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Sophie Nicole, Nicholas Stong, Sarah R. Horn, Jennifer A. Sullivan, Allyn McConkie‐Rosell, Sujay Kansagra, Edward C. Smith, Mays El-Dairi, Jane S. Bellet, Martha Ann Keels, Joan Jasien, Peter G. Kranz, Richard J. Noel, Shashi Nagaraj, Robert K. Lark, Daniel S. Wechsler, Daniela del Gaudio, Marco L. Leung, Laura G. Hendon, Collette C. Parker, Kelly L. Jones, David B. Goldstein, Vandana Shashi, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Bret L. Bostwick, Lindsay C. Burrage, Shan Chen, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Mahshid S. Azamian, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Jing Zhang, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel Ramoni, Kimberly Splinter, David Bick, Camille L. Birch, Braden Boone, Donna M. Brown

    Publicat 2017
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