Torthaí cuardaigh - Eric Vallabh Minikel

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  1. 1
    Human genetic evidence enriched for side effects of approved drugs

    Human genetic evidence enriched for side effects of approved drugs de réir Eric Vallabh Minikel, Matthew R. Nelson

    Foilsithe / Cruthaithe 2025
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  2. 2
    Autism Spectrum Disorder Genetics

    Autism Spectrum Disorder Genetics de réir Michael E. Talkowski, Eric Vallabh Minikel, James F. Gusella

    Foilsithe / Cruthaithe 2014
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  3. 3
    Antisense oligonucleotides

    Antisense oligonucleotides de réir Daniel R. Scoles, Eric Vallabh Minikel, Stefan M. Pulst

    Foilsithe / Cruthaithe 2019
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  4. 4
    Strictly co-isogenic C57BL/6J-<i>Prnp</i>−/− mice: A rigorous resource for prion science

    Strictly co-isogenic C57BL/6J-<i>Prnp</i>−/− mice: A rigorous resource for prion science de réir Mario Nuvolone, Mario Hermann, Silvia Sorce, Giancarlo Russo, Cinzia Tiberi, Petra Schwarz, Eric Vallabh Minikel, Despina Sanoudou, Paweł Pelczar, Adriano Aguzzi

    Foilsithe / Cruthaithe 2016
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  5. 5
    Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides

    Characterization of the Prion Protein Binding Properties of Antisense Oligonucleotides de réir Andrew G. Reidenbach, Eric Vallabh Minikel, Hien Zhao, Stacy Guzman, Alison Leed, Michael F. Mesleh, Holly Kordasiewicz, Stuart L. Schreiber, Sonia M. Vallabh

    Foilsithe / Cruthaithe 2019
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  6. 6
    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

    Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome de réir Colleen M. Carlston, Anne O’Donnell‐Luria, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric Vallabh Minikel, Daniel P. Birnbaum, Tatiana Tvrdik, Daniel G. MacArthur, Rong Mao

    Foilsithe / Cruthaithe 2017
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  7. 7
    Using high-resolution variant frequencies to empower clinical genome interpretation

    Using high-resolution variant frequencies to empower clinical genome interpretation de réir Nicola Whiffin, Eric Vallabh Minikel, Roddy Walsh, Anne O’Donnell‐Luria, Konrad J. Karczewski, Alexander Ing, Paul J.R. Barton, Birgit Funke, Stuart A. Cook, Daniel G. MacArthur, James S. Ware

    Foilsithe / Cruthaithe 2017
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  8. 8
    Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease

    Ascertainment Bias Causes False Signal of Anticipation in Genetic Prion Disease de réir Eric Vallabh Minikel, Inga Zerr, Steven Collins, Claudia Ponto, Alison Boyd, Genevieve M Klug, André Karch, Janna Kenny, John Collinge, Leonel Tadao Takada, Sven Forner, Jamie Fong, Simon Mead, Michael D. Geschwind

    Foilsithe / Cruthaithe 2014
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  9. 9
    A single-cell map of antisense oligonucleotide activity in the brain

    A single-cell map of antisense oligonucleotide activity in the brain de réir Meredith A Mortberg, Juliana E Gentile, Naeem Nadaf, Charles Vanderburg, Sean Simmons, Dan Dubinsky, Adam Slamin, Salome Maldonado, Caroline L Petersen, Nichole Jones, Holly Kordasiewicz, Hien Zhao, Sonia M. Vallabh, Eric Vallabh Minikel

    Foilsithe / Cruthaithe 2023
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  10. 10
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples de réir Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    Foilsithe / Cruthaithe 2016
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  11. 11
    Novel quaternary structures of the human prion protein globular domain

    Novel quaternary structures of the human prion protein globular domain de réir Leandro Oliveira Bortot, V.L. Rangel, Francesca A. Pavlovici, Kamel El Omari, Armin Wagner, J. Brandão-Neto, R. Talon, F. von Delft, Andrew G. Reidenbach, Sonia M. Vallabh, Eric Vallabh Minikel, Stuart L. Schreiber, Maria Cristina Nonato

    Foilsithe / Cruthaithe 2021
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  12. 12
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples de réir Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    Foilsithe / Cruthaithe 2016
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  13. 13
    Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development

    Prion protein quantification in human cerebrospinal fluid as a tool for prion disease drug development de réir Sonia M. Vallabh, Chloe K. Nobuhara, Franc Llorens, Inga Zerr, Piero Parchi, Sabina Capellari, Eric Kuhn, Jacob A. Klickstein, Jiri Safar, Flávia C. Nery, Kathryn J. Swoboda, Michael D. Geschwind, Henrik Zetterberg, Steven E. Arnold, Eric Vallabh Minikel, Stuart L. Schreiber

    Foilsithe / Cruthaithe 2019
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  14. 14
    Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease

    Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease de réir Sonia M. Vallabh, Eric Vallabh Minikel, Victoria J. Williams, Becky C. Carlyle, Alison J. McManus, Chase Wennick, Anna Bolling, Bianca A. Trombetta, David Urick, Chloe K. Nobuhara, Jessica Gerber, Holly Duddy, Ingolf Lachmann, Christiane Stehmann, Steven Collins, Kaj Blennow, Henrik Zetterberg, Steven E. Arnold

    Foilsithe / Cruthaithe 2020
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  15. 15
    Antisense oligonucleotides extend survival of prion-infected mice

    Antisense oligonucleotides extend survival of prion-infected mice de réir Gregory J. Raymond, Hien Zhao, Brent Race, Lynne D. Raymond, Katie Williams, Eric E. Swayze, Samantha Graffam, Jason Le, Tyler Caron, Jacquelyn Stathopoulos, Rhonda O’Keefe, Lori Lubke, Andrew G. Reidenbach, Allison Kraus, Stuart L. Schreiber, Curt Mazur, Deborah E. Cabin, Jeffrey B. Carroll, Eric Vallabh Minikel, Holly Kordasiewicz, Byron Caughey, Sonia M. Vallabh

    Foilsithe / Cruthaithe 2019
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  16. 16
    Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints

    Prion protein lowering is a disease-modifying therapy across prion disease stages, strains and endpoints de réir Eric Vallabh Minikel, Hien Zhao, Jason Le, Jill O’Moore, Rose Pitstick, Samantha Graffam, George A. Carlson, Michael P. Kavanaugh, Jasna Križ, Jae Beom Kim, Jiyan Ma, Holger Wille, Judd M. Aiken, Deborah McKenzie, Katsumi Doh‐ura, Matthew V. Beck, Rhonda O’Keefe, Jacquelyn Stathopoulos, Tyler Caron, Stuart L. Schreiber, Jeffrey B. Carroll, Holly Kordasiewicz, Deborah E. Cabin, Sonia M. Vallabh

    Foilsithe / Cruthaithe 2020
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  17. 17
    Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker

    Evidence that minocycline treatment confounds the interpretation of neurofilament as a biomarker de réir Juliana E Gentile, Christina N. Heiss, Taylor L Corridon, Meredith A Mortberg, Stefanie Fruhwürth, Kenia Guzman, Lana Grötschel, Laia Montoliu‐Gaya, Kwan L. Chan, Neil Herring, Timothy Janicki, Rajaa Nhass, Janani Manavala Sarathy, Brian K. Erickson, Ryan C. Kunz, Alison R. Erickson, Craig R. Braun, Katherine T Henry, Lynn Bry, Steven E. Arnold, Eric Vallabh Minikel, Henrik Zetterberg, Sonia M. Vallabh

    Foilsithe / Cruthaithe 2025
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  18. 18
    Multimodal small-molecule screening for human prion protein binders

    Multimodal small-molecule screening for human prion protein binders de réir Andrew G. Reidenbach, Michael F. Mesleh, Dominick Casalena, Sonia M. Vallabh, Jayme L. Dahlin, Alison Leed, Alix I Chan, Dmitry L. Usanov, Jenna Yehl, Christopher T. Lemke, Arthur J. Campbell, Rishi Shah, Om Kumar Shrestha, Joshua R. Sacher, V.L. Rangel, Jamie A. Moroco, Murugappan Sathappa, Maria Cristina Nonato, Kong T. Nguyen, S. Kirk Wright, David R. Liu, Florence F. Wagner, Virendar K. Kaushik, Douglas S. Auld, Stuart L. Schreiber, Eric Vallabh Minikel

    Foilsithe / Cruthaithe 2020
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  19. 19
    Multimodal small-molecule screening for human prion protein binders

    Multimodal small-molecule screening for human prion protein binders de réir Andrew G. Reidenbach, Michael F. Mesleh, Dominick Casalena, Sonia M. Vallabh, Jayme L. Dahlin, Alison Leed, Alix I Chan, Dmitry L. Usanov, Jenna Yehl, Christopher T. Lemke, Arthur J. Campbell, Rishi Shah, Om Kumar Shrestha, Joshua R. Sacher, V.L. Rangel, Jamie A. Moroco, Murugappan Sathappa, Maria Cristina Nonato, Kong T. Nguyen, S. Kirk Wright, David R. Liu, Florence F. Wagner, Virendar K. Kaushik, Douglas S. Auld, Stuart L. Schreiber, Eric Vallabh Minikel

    Foilsithe / Cruthaithe 2020
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  20. 20
    In vivo base editing extends lifespan of a humanized mouse model of prion disease

    In vivo base editing extends lifespan of a humanized mouse model of prion disease de réir Meirui An, Jessie R. Davis, Jonathan M. Levy, Fiona E. Serack, John Harvey, Pamela P. Brauer, Catherine P. Pirtle, Kiara N. Berríos, Gregory A. Newby, Wei-Hsi Yeh, N. Kamath, Meredith A Mortberg, Yuan Lian, Michael S. Howard, Kendrick DeSouza-Lenz, Kenia Guzman, A. C. Thai, Samantha Graffam, Alissa A. Coffey, J Frei, Sarah E. Pierce, Jiri Safar, Benjamin E. Deverman, Eric Vallabh Minikel, Sonia M. Vallabh, David R. Liu

    Foilsithe / Cruthaithe 2025
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